white blood cell count OR leukocyte count OR WBC count OR white cell c - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520	NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)	MTHFR (A222V +1 more)	Single nucleotide variant (missense variant)	methotrexate response - Toxicity	Gdrug response
Select item 18395	NM_002036.3(ACKR1):c.-67T>C	ACKR1	Single nucleotide variant (5 prime UTR variant)	Resistance to Plasmodium vivax infection +2 more	GPathogenic; association; protective
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 97966	NM_001243133.2(NLRP3):c.674C>T (p.Ala225Val)	NLRP3 (A227V +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2585447	NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)	ABCB11 (S560N)	Single nucleotide variant (missense variant)	Progressive familial intrahepatic cholestasis type 2	GUncertain significance
Select item 16921	NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)	CTLA4 (T17A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 4255	NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)	CYP27A1 (R395C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 8131	NM_138711.6(PPARG):c.28C>G (p.Pro10Ala)	PPARG (P12A +2 more)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, noninsulin-dependent, modifier of +3 more	Grisk factor
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57243	GRCh38/hg38 3q13.11-13.13(chr3:103692220-109605902)x1	LOC129389108, LOC129389109 +89 more	Copy number loss	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 147715	GRCh38/hg38 3q13.11(chr3:105422852-105685449)x1	ALCAM, CBLB	Copy number loss	See cases	GBenign
Select item 39293	NR_001566.3(TERC):n.37A>G	LOC110806306, TERC	Single nucleotide variant	Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 +1 more	GUncertain significance
Select item 3062682	GRCh37/hg19 3q13.11-13.12(chr3:104543802-107063286)x3	ALCAM, CBLB	Copy number gain	not specified	GUncertain significance
Select item 2685928	GRCh37/hg19 3q13.11(chr3:104454343-105313724)x3	ALCAM	Copy number gain	not provided	GUncertain significance
Select item 1341297	GRCh37/hg19 3q13.11(chr3:103880751-105922594)x3	ALCAM, CBLB	Copy number gain	not provided	GUncertain significance
Select item 814468	GRCh37/hg19 3q12.3-13.2(chr3:101812245-112174485)x1	ABHD10, ALCAM +29 more	Copy number loss	not provided	GPathogenic
Select item 625822	GRCh37/hg19 3q28(chr3:190039387-190040504)	CLDN1	Copy number loss	Neonatal ichthyosis-sclerosing cholangitis syndrome	GPathogenic
Select item 562798	GRCh37/hg19 3q13.11(chr3:104712398-105090473)x3	ALCAM	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic
Select item 237248	NM_000222.3(KIT):c.1594G>A (p.Val532Ile)	KIT (V532I +3 more)	Single nucleotide variant (missense variant)	Piebaldism +4 more	GConflicting classifications of pathogenicity
Select item 41601	NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)	KIT (A755T +5 more)	Single nucleotide variant (missense variant)	Mastocytosis +4 more	GConflicting classifications of pathogenicity
Select item 265267	NM_198253.3(TERT):c.1700C>T (p.Thr567Met)	TERT (T567M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely pathogenic
Select item 1339097	NM_000521.4(HEXB):c.766A>C (p.Asn256His)	HEXB (N256H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 135650	NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)	PDGFRB (R695C +2 more)	Single nucleotide variant (missense variant)	Cerebral palsy +5 more	GConflicting classifications of pathogenicity
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 1809383	GRCh37/hg19 5q31.1(chr5:134524754-135283222)x3	CXCL14, DCANP1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARAP3, ARB2A +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 1527232	GRCh37/hg19 6p21.33(chr6:31384577-31902308)	ABHD16A, AIF1 +40 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 3341367	NM_207111.4(RNF216):c.1904C>T (p.Pro635Leu)	RNF216 (P578L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia-hypogonadism syndrome	GUncertain significance
Select item 1695382	NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe)	GFI1B (C168F)	Single nucleotide variant (missense variant)	Platelet-type bleeding disorder 17 +1 more	GPathogenic/Likely pathogenic
Select item 1035654	NM_001382567.1(STIM1):c.22G>A (p.Ala8Thr)	STIM1 (A8T)	Single nucleotide variant (missense variant +4 more)	Immunodeficiency, common variable, 10 +4 more	GUncertain significance
Select item 446735	NM_000518.4(HBB):c.[20A>T;70G>A]	HBB, LOC106099062 +1 more (E7V +1 more)	Single nucleotide variant (missense variant)	HEMOGLOBIN S (ANTILLES)	GPathogenic
Select item 15333	NM_000518.5(HBB):c.20A>T (p.Glu7Val)	HBB, LOC106099062 +1 more (E7V)	Single nucleotide variant (missense variant)	HBB-related disorder +15 more	GPathogenic
Select item 578258	NM_031471.6(FERMT3):c.332G>A (p.Arg111His)	FERMT3 (R111H)	Single nucleotide variant (missense variant +1 more)	Leukocyte adhesion deficiency 3 +1 more	GUncertain significance
Select item 3777	NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)	TYR (P406L)	Single nucleotide variant (missense variant)	Abnormality of the skin +7 more	GPathogenic/Likely pathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1445127	NC_000011.9:g.(?_63974837)_(63990964_?)dup	FERMT3	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 832501	NC_000011.10:g.(?_45805782)_(45910982_?)dup	CRY2, FREY1 +3 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 2585458	NM_005337.5(NCKAP1L):c.2T>C (p.Met1Thr)	NCKAP1L (M1T)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 72 with autoinflammation	GLikely pathogenic
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 636250	NM_001385012.1(NBEA):c.5899G>A (p.Gly1967Arg)	NBEA (G1967R +1 more)	Single nucleotide variant (missense variant)	NBEA-related developmental delay and generalized epilepsy	GLikely pathogenic
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 992640	NM_001082486.2(ACD):c.361del (p.Asp121fs)	ACD (D118fs +1 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 6	GPathogenic
Select item 992639	NM_001082486.2(ACD):c.244GAG[1] (p.Glu83del)	ACD (E80del +1 more)	Microsatellite (inframe_deletion)	Dyskeratosis congenita, autosomal dominant 6	GPathogenic
Select item 17299	NM_000088.4(COL1A1):c.3244G>T (p.Gly1082Cys)	COL1A1 (G1082C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, perinatal lethal	GPathogenic
Select item 13426	NM_000371.4(TTR):c.424G>A (p.Val142Ile)	TTR (V142I)	Single nucleotide variant (missense variant)	ATTRV122I amyloidosis +12 more	GPathogenic
Select item 151481	GRCh37/hg19 19q13.42(chr19:54769799-54835745)x3	LILRA3, LILRA5 +6 more	Copy number gain	See cases	GBenign
Select item 151454	GRCh37/hg19 19q13.42(chr19:54769799-54864136)x3	LOC126862931, LAIR1 +10 more	Copy number gain	See cases	GLikely benign
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 145234	GRCh37/hg19 19q13.42(chr19:55116560-55164779)x1	LILRB1, LILRB4 +1 more	Copy number loss	See cases	GBenign
Select item 161264	NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	LDLR (A606S +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GUncertain significance FDA Recognized database
Select item 4221	NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	FKRP (L276I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2I +19 more	GPathogenic/Likely pathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 2579182	GRCh38/hg38 19q13.42(chr19:54152129-54161358)x1	CNOT3, LENG1 +1 more	Copy number loss	Intellectual developmental disorder with speech delay, autism, and dysmorphic facies	GPathogenic
Select item 3242700	NC_000019.9:g.(?_54621659)_(54797848_?)dup	CNOT3, LENG1 +9 more	Duplication	not provided	GUncertain significance

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