83932[geneid] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57819	GRCh38/hg38 1q42.13-42.2(chr1:229883805-231517553)x3	AGT, ARV1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2406303	NM_032018.7(SPRTN):c.124A>T (p.Thr42Ser)	SPRTN (T42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223556	NM_032018.7(SPRTN):c.239G>A (p.Ser80Asn)	SPRTN (S80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474462	NM_032018.7(SPRTN):c.268A>C (p.Ile90Leu)	SPRTN (I90L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 758657	NM_032018.7(SPRTN):c.327C>G (p.Leu109=)	SPRTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 143916	NM_032018.7(SPRTN):c.350A>G (p.Tyr117Cys)	SPRTN (Y117C)	Single nucleotide variant (missense variant +1 more)	Progeroid features-hepatocellular carcinoma predisposition syndrome	GPathogenic
Select item 792665	NM_032018.7(SPRTN):c.369C>T (p.Asn123=)	SPRTN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2541453	NM_032018.7(SPRTN):c.377A>G (p.Asp126Gly)	SPRTN (D126G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240852	NM_032018.7(SPRTN):c.443A>G (p.Asn148Ser)	SPRTN (N148S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333157	NM_032018.7(SPRTN):c.451-33T>C	SPRTN	Single nucleotide variant (intron variant)	Progeroid features-hepatocellular carcinoma predisposition syndrome +1 more	GBenign
Select item 2261030	NM_032018.7(SPRTN):c.470A>G (p.Asp157Gly)	SPRTN (D114G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780327	NM_032018.7(SPRTN):c.534G>A (p.Pro178=)	SPRTN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711845	NM_032018.7(SPRTN):c.540C>T (p.Tyr180=)	SPRTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508396	NM_032018.7(SPRTN):c.628A>G (p.Ile210Val)	SPRTN (I167V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593976	NM_032018.7(SPRTN):c.676G>C (p.Ala226Pro)	SPRTN (A226P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 732030	NM_032018.7(SPRTN):c.705C>T (p.Ala235=)	SPRTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749382	NM_032018.7(SPRTN):c.708A>G (p.Ala236=)	SPRTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 143915	NM_032018.7(SPRTN):c.718_718+3del	SPRTN (G197fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 162628	NM_032018.7(SPRTN):c.723del (p.Lys241fs)	SPRTN (K241fs)	Deletion (3 prime UTR variant +1 more)	Progeroid features-hepatocellular carcinoma predisposition syndrome	GPathogenic
Select item 727924	NM_032018.7(SPRTN):c.786A>G (p.Glu262=)	SPRTN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2411751	NM_032018.7(SPRTN):c.819C>G (p.Ile273Met)	SPRTN (I273M)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1333158	NM_032018.7(SPRTN):c.887C>T (p.Pro296Leu)	SPRTN (P296L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 713886	NM_032018.7(SPRTN):c.904G>A (p.Val302Met)	SPRTN (V302M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3169409	NM_032018.7(SPRTN):c.942T>A (p.His314Gln)	SPRTN (H314Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600049	NM_032018.7(SPRTN):c.962G>T (p.Ser321Ile)	SPRTN (S321I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3169407	NM_032018.7(SPRTN):c.1003G>A (p.Val335Ile)	SPRTN (V335I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 728725	NM_032018.7(SPRTN):c.1035T>C (p.Gly345=)	SPRTN	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3169408	NM_032018.7(SPRTN):c.1051A>G (p.Arg351Gly)	SPRTN (R351G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493594	NM_032018.7(SPRTN):c.1109G>A (p.Arg370Lys)	SPRTN (R370K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369023	NM_032018.7(SPRTN):c.1141A>C (p.Asn381His)	SPRTN (N381H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 741099	NM_032018.7(SPRTN):c.1271A>G (p.Lys424Arg)	SPRTN (K424R)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 741100	NM_032018.7(SPRTN):c.1272A>C (p.Lys424Asn)	SPRTN (K424N)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2372932	NM_032018.7(SPRTN):c.1276C>A (p.Gln426Lys)	SPRTN (Q426K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395737	NM_032018.7(SPRTN):c.1301C>T (p.Pro434Leu)	SPRTN (P434L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714798	NM_032018.7(SPRTN):c.1315A>T (p.Thr439Ser)	SPRTN (T439S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2569622	NM_032018.7(SPRTN):c.1316C>T (p.Thr439Ile)	SPRTN (T439I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3032049	NM_032018.7(SPRTN):c.1393G>A (p.Glu465Lys)	SPRTN (E465K)	Single nucleotide variant (3 prime UTR variant +1 more)	SPRTN-related disorder	GUncertain significance
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1527603	GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538)	ABCB10, ACTA1 +36 more	Copy number loss	not specified	GPathogenic
Select item 1527592	GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227)	ABCB10, ACBD3 +55 more	Copy number loss	not specified	GLikely pathogenic
Select item 1411795	NC_000001.10:g.(?_229567246)_(232172577_?)dup	ABCB10, ACTA1 +21 more	Duplication	Actin accumulation myopathy	GUncertain significance
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
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 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395463	GRCh37/hg19 1q42.2(chr1:231413309-231487406)x3	EXOC8, GNPAT +1 more	Copy number gain	See cases	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic

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Items: 76