ClinVar for Gene (Select 640) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245562	NC_000008.10:g.(?_11391650)_(11421617_?)dup	BLK	Duplication	not provided	GUncertain significance
Select item 3245523	NC_000008.10:g.(?_11351220)_(11710963_?)dup	BLK, CTSB +3 more	Duplication	Atrioventricular septal defect 4	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3134126	NM_001715.3(BLK):c.757G>T (p.Gly253Cys)	BLK (G182C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134125	NM_001715.3(BLK):c.554G>A (p.Gly185Glu)	BLK (G185E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134124	NM_001715.3(BLK):c.1397G>A (p.Arg466His)	BLK (R466H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134123	NM_001715.3(BLK):c.1112C>T (p.Ala371Val)	BLK (A300V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134122	NM_001715.3(BLK):c.1085G>A (p.Arg362Gln)	BLK (R291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134121	NM_001715.3(BLK):c.103G>A (p.Ala35Thr)	BLK (A35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	DEFB134, DEFB135 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063015	GRCh37/hg19 8p23.1(chr8:10783690-11882401)x3	BLK, CTSB +10 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3054708	NM_001715.3(BLK):c.1313-8del	BLK	Deletion (intron variant)	BLK-related disorder	GLikely benign
Select item 3052293	NM_001715.3(BLK):c.72C>T (p.Ser24=)	BLK	Single nucleotide variant (synonymous variant +1 more)	BLK-related disorder	GLikely benign
Select item 3047563	NM_001715.3(BLK):c.759C>T (p.Gly253=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related disorder	GLikely benign
Select item 3045986	NC_000008.11:g.11474237T>A	BLK, FAM167A	Single nucleotide variant	BLK-related disorder	GLikely benign
Select item 3037816	NM_001715.3(BLK):c.1464G>A (p.Ser488=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related disorder	GLikely benign
Select item 3036683	NC_000008.11:g.11564614T>C	BLK	Single nucleotide variant	BLK-related disorder	GLikely benign
Select item 3032124	NM_001715.3(BLK):c.1065T>C (p.Asn355=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related disorder	GLikely benign
Select item 3031724	NM_001715.3(BLK):c.546G>C (p.Leu182=)	BLK	Single nucleotide variant (synonymous variant)	BLK-related disorder	GLikely benign
Select item 3031188	NM_001715.3(BLK):c.1029+7G>A	BLK	Single nucleotide variant (intron variant)	BLK-related disorder	GLikely benign
Select item 3024193	NM_001715.3(BLK):c.8T>C (p.Leu3Pro)	BLK (L3P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012134	NM_001715.3(BLK):c.175G>A (p.Asp59Asn)	BLK (D59N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3009660	NM_001715.3(BLK):c.1314G>A (p.Gly438=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007174	NM_001715.3(BLK):c.1180+18C>T	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002989	NM_001715.3(BLK):c.1156G>A (p.Asp386Asn)	BLK (D386N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997435	NM_001715.3(BLK):c.1030-9T>C	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995287	NM_001715.3(BLK):c.228C>G (p.Asp76Glu)	BLK (D76E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994375	NM_001715.3(BLK):c.893G>A (p.Arg298Gln)	BLK (R227Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992153	NM_001715.3(BLK):c.1082T>G (p.Leu361Arg)	BLK (L290R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970910	NM_001715.3(BLK):c.741C>T (p.Leu247=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964970	NM_001715.3(BLK):c.554G>T (p.Gly185Val)	BLK (G185V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960906	NM_001715.3(BLK):c.1180+11C>T	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956774	NM_001715.3(BLK):c.368+15G>A	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956616	NM_001715.3(BLK):c.408G>A (p.Arg136=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906135	NM_001715.3(BLK):c.129C>T (p.Val43=)	BLK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2902009	NM_001715.3(BLK):c.1022C>T (p.Ser341Leu)	BLK (S341L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894554	NM_001715.3(BLK):c.1362G>T (p.Met454Ile)	BLK (M383I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879622	NM_001715.3(BLK):c.1312+16C>T	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868986	NM_001715.3(BLK):c.175+18G>A	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771580	NM_001715.3(BLK):c.884G>C (p.Arg295Pro)	BLK (R224P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764768	NM_001715.3(BLK):c.1460A>G (p.Gln487Arg)	BLK (Q416R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764643	NM_001715.3(BLK):c.620-6A>C	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756044	NM_001715.3(BLK):c.26C>T (p.Pro9Leu)	BLK (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728156	NM_001715.3(BLK):c.555G>C (p.Gly185=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725033	NM_001715.3(BLK):c.1025C>T (p.Ala342Val)	BLK (A342V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723467	NM_001715.3(BLK):c.219T>A (p.Asn73Lys)	BLK (N2K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716776	NM_001715.3(BLK):c.690C>T (p.Ala230=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715555	NM_001715.3(BLK):c.1408G>A (p.Ala470Thr)	BLK (A399T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712322	NM_001715.3(BLK):c.369-9G>A	BLK, LOC126860303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707959	NM_001715.3(BLK):c.152C>T (p.Pro51Leu)	BLK (P51L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2703608	NM_001715.3(BLK):c.1070T>C (p.Ile357Thr)	BLK (I286T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694887	NM_001715.3(BLK):c.88G>A (p.Ala30Thr)	BLK (A30T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB104B, DEFB105A +64 more	Copy number loss	not provided	GPathogenic
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	ADAM18, ADAM2 +225 more	Copy number gain	not provided	GPathogenic
Select item 2658408	NM_001715.3(BLK):c.952+46C>A	BLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658407	NM_001715.3(BLK):c.772+341C>G	BLK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2658406	NM_001715.3(BLK):c.669G>A (p.Pro223=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2658405	NM_001715.3(BLK):c.642G>C (p.Gln214His)	BLK (Q143H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658404	NM_001715.3(BLK):c.465C>A (p.Thr155=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633066	NM_001715.3(BLK):c.284G>A (p.Trp95Ter)	BLK (W24* +1 more)	Single nucleotide variant (nonsense)	BLK-related disorder	GUncertain significance
Select item 2630344	NM_001715.3(BLK):c.1088C>T (p.Ala363Val)	BLK (A292V +1 more)	Single nucleotide variant (missense variant)	BLK-related disorder	GUncertain significance
Select item 2628799	NM_001715.3(BLK):c.176A>G (p.Asp59Gly)	BLK (D59G)	Single nucleotide variant (5 prime UTR variant +1 more)	BLK-related disorder	GUncertain significance
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2580178	NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)	BLK (A320T +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2579843	NM_001715.3(BLK):c.471A>G (p.Lys157=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579149	NM_001715.3(BLK):c.952G>A (p.Gly318Arg)	BLK (G247R +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2543735	NM_001715.3(BLK):c.1432G>A (p.Glu478Lys)	BLK (E407K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505931	NM_001715.3(BLK):c.1091C>T (p.Ala364Val)	BLK (A293V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2479940	NM_001715.3(BLK):c.901G>C (p.Ala301Pro)	BLK (A230P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443082	NM_001715.3(BLK):c.1363C>G (p.Pro455Ala)	BLK (P384A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439526	NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)	BLK (P386L +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2429594	NM_001715.3(BLK):c.503C>T (p.Thr168Ile)	BLK (T168I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428755	NM_001715.3(BLK):c.922A>G (p.Ile308Val)	BLK (I237V +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GLikely benign
Select item 2428692	NM_001715.3(BLK):c.1393T>C (p.Tyr465His)	BLK (Y394H +1 more)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 11	GUncertain significance
Select item 2427877	NM_001715.3(BLK):c.1452G>C (p.Glu484Asp)	BLK (E413D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424222	NC_000008.10:g.(?_11408516)_(11412378_?)del	BLK	Deletion	not provided	GUncertain significance
Select item 2420141	NM_001715.3(BLK):c.900C>T (p.Tyr300=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413254	NM_001715.3(BLK):c.665G>A (p.Arg222His)	BLK (R151H +1 more)	Single nucleotide variant (missense variant)	BLK-related disorder +1 more	GUncertain significance
Select item 2409230	NM_001715.3(BLK):c.1051A>G (p.Ile351Val)	BLK (I280V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327721	NM_001715.3(BLK):c.808A>T (p.Thr270Ser)	BLK (T270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287156	NM_001715.3(BLK):c.1066T>C (p.Ser356Pro)	BLK (S356P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253164	NM_001715.3(BLK):c.567C>G (p.Ile189Met)	BLK (I118M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2199744	NM_001715.3(BLK):c.510G>C (p.Gln170His)	BLK (Q170H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189356	NM_001715.3(BLK):c.632G>T (p.Gly211Val)	BLK (G211V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183174	NM_001715.3(BLK):c.1297C>T (p.Arg433Trp)	BLK (R362W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174471	NM_001715.3(BLK):c.1227C>T (p.Phe409=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2152056	NM_001715.3(BLK):c.351G>A (p.Glu117=)	BLK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2120947	NM_001715.3(BLK):c.550G>A (p.Glu184Lys)	BLK (E113K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097154	NM_001715.3(BLK):c.1034C>T (p.Ala345Val)	BLK (A274V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085887	NM_001715.3(BLK):c.1253T>G (p.Val418Gly)	BLK (V418G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085024	NM_001715.3(BLK):c.1422C>T (p.Arg474=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082852	NM_001715.3(BLK):c.396G>A (p.Lys132=)	BLK, LOC126860303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2076024	NM_001715.3(BLK):c.572C>G (p.Pro191Arg)	BLK (P120R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036908	NM_001715.3(BLK):c.132C>T (p.Phe44=)	BLK	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2033669	NM_001715.3(BLK):c.953-14T>A	BLK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019236	NM_001715.3(BLK):c.1440G>T (p.Arg480=)	BLK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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