nitric acid - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 464

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 200934	NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)	LMNA, LOC126805877 (R133Q +2 more)	Single nucleotide variant (missense variant)	Hutchinson-Gilford syndrome +14 more	GConflicting classifications of pathogenicity
Select item 2496038	NM_014697.3(NOS1AP):c.46C>G (p.Leu16Val)	NOS1AP (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 928809	NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr)	NOS1AP (C31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610719	NM_014697.3(NOS1AP):c.151A>G (p.Ile51Val)	NOS1AP (I51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201293	NM_014697.3(NOS1AP):c.195G>C (p.Lys65Asn)	NOS1AP (K65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201294	NM_014697.3(NOS1AP):c.220A>T (p.Ile74Phe)	NOS1AP (I74F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553852	NM_014697.3(NOS1AP):c.275T>A (p.Leu92His)	NOS1AP (L92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337250	NM_014697.3(NOS1AP):c.346A>G (p.Ile116Val)	NOS1AP (I111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201295	NM_014697.3(NOS1AP):c.414C>G (p.Ser138Arg)	NOS1AP (S138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201296	NM_014697.3(NOS1AP):c.535A>G (p.Asn179Asp)	NOS1AP (N179D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201297	NM_014697.3(NOS1AP):c.587G>T (p.Gly196Val)	NOS1AP (G191V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614631	NM_014697.3(NOS1AP):c.617A>G (p.Glu206Gly)	NOS1AP (E201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201298	NM_014697.3(NOS1AP):c.620G>A (p.Arg207Lys)	NOS1AP (R202K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201299	NM_014697.3(NOS1AP):c.659C>T (p.Ala220Val)	NOS1AP (A220V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287396	NM_014697.3(NOS1AP):c.696A>C (p.Glu232Asp)	NOS1AP (E227D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393219	NM_014697.3(NOS1AP):c.771C>A (p.His257Gln)	NOS1AP (H252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201301	NM_014697.3(NOS1AP):c.833C>T (p.Pro278Leu)	NOS1AP (P273L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206913	NM_014697.3(NOS1AP):c.857C>T (p.Pro286Leu)	NOS1AP (P281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409145	NM_014697.3(NOS1AP):c.1001G>A (p.Arg334His)	NOS1AP (R39H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239898	NM_014697.3(NOS1AP):c.1034T>G (p.Met345Arg)	NOS1AP (M340R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201292	NM_014697.3(NOS1AP):c.1175C>T (p.Thr392Met)	NOS1AP (T387M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 496430	NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu)	NOS1AP (P402L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300394	NM_014697.3(NOS1AP):c.1219G>A (p.Gly407Ser)	NOS1AP (G112S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553703	NM_014697.3(NOS1AP):c.1285G>C (p.Glu429Gln)	NOS1AP (E424Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630924	NM_014697.3(NOS1AP):c.1349G>C (p.Gly450Ala)	NOS1AP (G155A +2 more)	Single nucleotide variant (missense variant)	NOS1AP-related disorder	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 2276621	NM_001039724.4(NOSTRIN):c.731G>A (p.Cys244Tyr)	NOSTRIN (C166Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390801	NM_001039724.4(NOSTRIN):c.737C>T (p.Thr246Met)	NOSTRIN (T218M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201347	NM_001039724.4(NOSTRIN):c.773A>G (p.Glu258Gly)	NOSTRIN (E180G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352759	NM_001039724.4(NOSTRIN):c.779A>T (p.Asp260Val)	NOSTRIN (D182V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342866	NM_001039724.4(NOSTRIN):c.818C>T (p.Thr273Ile)	NOSTRIN (T245I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300422	NM_001039724.4(NOSTRIN):c.947C>A (p.Ala316Asp)	NOSTRIN (A238D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337464	NM_001039724.4(NOSTRIN):c.977T>C (p.Met326Thr)	NOSTRIN (M248T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300423	NM_001039724.4(NOSTRIN):c.978G>A (p.Met326Ile)	NOSTRIN (M326I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369372	NM_001039724.4(NOSTRIN):c.1032C>G (p.Asp344Glu)	NOSTRIN (D344E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201344	NM_001039724.4(NOSTRIN):c.1045A>G (p.Met349Val)	NOSTRIN (M406V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290735	NM_001039724.4(NOSTRIN):c.1141C>T (p.His381Tyr)	NOSTRIN (H438Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223031	NM_001039724.4(NOSTRIN):c.1159A>G (p.Ile387Val)	NOSTRIN (I387V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201345	NM_001039724.4(NOSTRIN):c.1207T>A (p.Ser403Thr)	NOSTRIN (S325T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790256	NM_001039724.4(NOSTRIN):c.1210C>T (p.Arg404Trp)	NOSTRIN (R326W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2381820	NM_001039724.4(NOSTRIN):c.1306G>A (p.Ala436Thr)	NOSTRIN, SPC25 (A358T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369603	NM_001039724.4(NOSTRIN):c.1333G>T (p.Ala445Ser)	NOSTRIN, SPC25 (A417S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249266	NM_001039724.4(NOSTRIN):c.1405G>A (p.Glu469Lys)	NOSTRIN, SPC25 (E469K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300421	NM_001039724.4(NOSTRIN):c.1468G>A (p.Ala490Thr)	NOSTRIN, SPC25 (A412T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 30048	NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)	SCN5A (E428K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +11 more	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 3200896	NM_032313.4(NOA1):c.2062A>G (p.Asn688Asp)	NOA1 (N688D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568727	NM_032313.4(NOA1):c.2057T>C (p.Met686Thr)	NOA1 (M686T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491774	NM_032313.4(NOA1):c.2030A>G (p.Tyr677Cys)	NOA1 (Y677C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200894	NM_032313.4(NOA1):c.1994A>T (p.Asn665Ile)	NOA1 (N665I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491143	NM_032313.4(NOA1):c.1963G>A (p.Val655Ile)	NOA1 (V655I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245341	NM_032313.4(NOA1):c.1947A>T (p.Glu649Asp)	NOA1 (E649D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300196	NM_032313.4(NOA1):c.1937A>G (p.Tyr646Cys)	NOA1 (Y646C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397034	NM_032313.4(NOA1):c.1868T>A (p.Ile623Asn)	NOA1 (I623N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332263	NM_032313.4(NOA1):c.1861G>C (p.Ala621Pro)	NOA1 (A621P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300193	NM_032313.4(NOA1):c.1805C>T (p.Pro602Leu)	NOA1 (P602L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411809	NM_032313.4(NOA1):c.1790T>C (p.Met597Thr)	NOA1 (M597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254278	NM_032313.4(NOA1):c.1726G>A (p.Ala576Thr)	NOA1 (A576T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2569290	NM_032313.4(NOA1):c.1675G>A (p.Val559Met)	NOA1 (V559M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538486	NM_032313.4(NOA1):c.1562C>T (p.Thr521Ile)	NOA1 (T521I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223850	NM_032313.4(NOA1):c.1456C>G (p.Gln486Glu)	NOA1 (Q486E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300198	NM_032313.4(NOA1):c.1371T>G (p.Phe457Leu)	NOA1 (F457L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200892	NM_032313.4(NOA1):c.1365T>A (p.Phe455Leu)	NOA1 (F455L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378905	NM_032313.4(NOA1):c.1306G>A (p.Val436Ile)	NOA1 (V436I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510072	NM_032313.4(NOA1):c.1181A>G (p.Asn394Ser)	NOA1 (N394S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264266	NM_032313.4(NOA1):c.1108G>A (p.Glu370Lys)	NOA1 (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200891	NM_032313.4(NOA1):c.1085A>C (p.Asp362Ala)	NOA1 (D362A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200908	NM_032313.4(NOA1):c.946A>G (p.Ile316Val)	NOA1 (I316V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200907	NM_032313.4(NOA1):c.889G>A (p.Gly297Arg)	NOA1 (G297R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2343595	NM_032313.4(NOA1):c.889G>C (p.Gly297Arg)	NOA1 (G297R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2315218	NM_032313.4(NOA1):c.878A>T (p.Glu293Val)	NOA1 (E293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200906	NM_032313.4(NOA1):c.857C>T (p.Pro286Leu)	NOA1 (P286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200905	NM_032313.4(NOA1):c.823G>C (p.Ala275Pro)	NOA1 (A275P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600917	NM_032313.4(NOA1):c.809A>G (p.Glu270Gly)	NOA1 (E270G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372051	NM_032313.4(NOA1):c.775G>C (p.Gly259Arg)	NOA1 (G259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200904	NM_032313.4(NOA1):c.694C>T (p.Pro232Ser)	LOC129992637, NOA1 (P232S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295072	NM_032313.4(NOA1):c.676C>G (p.Leu226Val)	NOA1 (L226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200903	NM_032313.4(NOA1):c.637G>C (p.Gly213Arg)	NOA1 (G213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200901	NM_032313.4(NOA1):c.605T>C (p.Leu202Pro)	NOA1 (L202P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300200	NM_032313.4(NOA1):c.599A>G (p.Gln200Arg)	NOA1 (Q200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209569	NM_032313.4(NOA1):c.585G>T (p.Gln195His)	NOA1 (Q195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200900	NM_032313.4(NOA1):c.577C>T (p.Arg193Cys)	NOA1 (R193C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532563	NM_032313.4(NOA1):c.542G>C (p.Arg181Pro)	NOA1 (R181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300194	NM_032313.4(NOA1):c.537C>G (p.Cys179Trp)	NOA1 (C179W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200899	NM_032313.4(NOA1):c.532G>C (p.Val178Leu)	NOA1 (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200898	NM_032313.4(NOA1):c.530C>G (p.Thr177Ser)	NOA1 (T177S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615198	NM_032313.4(NOA1):c.515G>A (p.Gly172Asp)	NOA1 (G172D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336539	NM_032313.4(NOA1):c.456C>A (p.Asp152Glu)	LOC129992638, NOA1 (D152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 5