WSCD1[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 150321	GRCh38/hg38 17p13.2(chr17:5695008-6341442)x1	LOC112533656, LOC125177411 +8 more	Copy number loss	See cases	GUncertain significance
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic
Select item 2647306	NM_001388405.1(WSCD1):c.-289+64G>A	WSCD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2273085	NM_015253.2(WSCD1):c.4G>A (p.Ala2Thr)	WSCD1 (A2T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273086	NM_015253.2(WSCD1):c.5C>A (p.Ala2Asp)	WSCD1 (A2D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348644	NM_015253.2(WSCD1):c.88G>A (p.Gly30Ser)	WSCD1 (G30S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289659	NM_015253.2(WSCD1):c.116G>A (p.Arg39His)	WSCD1 (R39H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559130	NM_015253.2(WSCD1):c.140G>C (p.Arg47Pro)	WSCD1 (R47P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410343	NM_015253.2(WSCD1):c.182C>T (p.Ala61Val)	WSCD1 (A61V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391933	NM_015253.2(WSCD1):c.190G>A (p.Val64Met)	WSCD1 (V64M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593637	NM_015253.2(WSCD1):c.286C>T (p.Arg96Trp)	WSCD1 (R96W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494716	NM_015253.2(WSCD1):c.298C>T (p.Arg100Cys)	WSCD1 (R100C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2291478	NM_015253.2(WSCD1):c.307C>T (p.Arg103Trp)	WSCD1 (R103W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544357	NM_015253.2(WSCD1):c.312C>A (p.Ser104Arg)	WSCD1 (S104R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305980	NM_015253.2(WSCD1):c.329G>A (p.Arg110His)	WSCD1 (R110H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2463133	NM_015253.2(WSCD1):c.331C>A (p.Gln111Lys)	WSCD1 (Q111K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250370	NM_015253.2(WSCD1):c.356A>G (p.His119Arg)	WSCD1 (H119R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352778	NM_015253.2(WSCD1):c.425G>A (p.Arg142Gln)	WSCD1 (R142Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233887	NM_015253.2(WSCD1):c.502A>G (p.Lys168Glu)	WSCD1 (K168E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2647307	NM_015253.2(WSCD1):c.558C>T (p.Ala186=)	WSCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647308	NM_015253.2(WSCD1):c.588C>T (p.Cys196=)	WSCD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397532	NM_015253.2(WSCD1):c.713C>T (p.Pro238Leu)	WSCD1 (P70L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2507922	NM_015253.2(WSCD1):c.731G>A (p.Arg244Gln)	WSCD1 (R244Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371466	NM_015253.2(WSCD1):c.809A>G (p.Asn270Ser)	WSCD1 (N270S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295650	NM_015253.2(WSCD1):c.830C>T (p.Ser277Leu)	WSCD1 (S277L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533179	NM_015253.2(WSCD1):c.853T>C (p.Phe285Leu)	WSCD1 (F285L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473613	NM_015253.2(WSCD1):c.887A>T (p.Tyr296Phe)	WSCD1 (Y128F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593322	NM_015253.2(WSCD1):c.908G>A (p.Arg303Gln)	WSCD1 (R135Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356126	NM_015253.2(WSCD1):c.919C>T (p.Arg307Trp)	WSCD1 (R139W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617208	NM_015253.2(WSCD1):c.922G>A (p.Asp308Asn)	WSCD1 (D140N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468665	NM_015253.2(WSCD1):c.953A>G (p.Asp318Gly)	WSCD1 (D150G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363485	NM_015253.2(WSCD1):c.1030A>G (p.Arg344Gly)	WSCD1 (R344G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387079	NM_015253.2(WSCD1):c.1151T>C (p.Phe384Ser)	WSCD1 (F216S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604435	NM_015253.2(WSCD1):c.1201C>T (p.Arg401Trp)	WSCD1 (R401W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464517	NM_015253.2(WSCD1):c.1211G>A (p.Arg404His)	WSCD1 (R404H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496395	NM_015253.2(WSCD1):c.1216A>G (p.Ile406Val)	WSCD1 (I406V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328108	NM_015253.2(WSCD1):c.1273A>G (p.Ile425Val)	WSCD1 (I257V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490277	NM_015253.2(WSCD1):c.1286G>A (p.Arg429Gln)	WSCD1 (R261Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485108	NM_015253.2(WSCD1):c.1358G>A (p.Arg453His)	WSCD1 (R285H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227707	NM_015253.2(WSCD1):c.1406C>T (p.Ser469Leu)	WSCD1 (S301L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325003	NM_015253.2(WSCD1):c.1471G>A (p.Glu491Lys)	WSCD1 (E323K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470953	NM_015253.2(WSCD1):c.1481G>A (p.Arg494Gln)	WSCD1 (R326Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367260	NM_015253.2(WSCD1):c.1505G>A (p.Arg502Gln)	WSCD1 (R334Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345956	NM_015253.2(WSCD1):c.1594G>A (p.Gly532Ser)	WSCD1 (G364S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318331	NM_015253.2(WSCD1):c.1600C>T (p.Arg534Cys)	WSCD1 (R534C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342801	NM_015253.2(WSCD1):c.1601G>A (p.Arg534His)	WSCD1 (R534H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492979	NM_015253.2(WSCD1):c.1634T>C (p.Met545Thr)	WSCD1 (M545T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222055	NM_015253.2(WSCD1):c.1639G>A (p.Asp547Asn)	WSCD1 (D547N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520683	NM_015253.2(WSCD1):c.1660C>T (p.Arg554Trp)	WSCD1 (R386W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210036	NM_015253.2(WSCD1):c.1682G>A (p.Arg561His)	WSCD1 (R561H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269623	NM_015253.2(WSCD1):c.1721C>T (p.Pro574Leu)	WSCD1 (P406L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 2684835	GRCh37/hg19 17p13.2(chr17:5692922-6101185)x3	WSCD1	Copy number gain	not provided	GUncertain significance
Select item 2427557	NC_000017.10:g.(?_5289526)_(6616652_?)dup	AIPL1, C17orf100 +14 more	Duplication	Developmental and epileptic encephalopathy, 25	GUncertain significance
Select item 1341162	GRCh37/hg19 17p13.2(chr17:5783282-6054342)x1	WSCD1	Copy number loss	not provided	GUncertain significance
Select item 688934	GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1	ALOX15, ANKFY1 +48 more	Copy number loss	not provided	GUncertain significance
Select item 625578	GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)	RTN4RL1, SCARF1 +115 more	Copy number gain	Chromosome 17P13.3, telomeric, duplication syndrome	GPathogenic
Select item 564395	GRCh37/hg19 17p13.2(chr17:5725112-6145658)x3	WSCD1	Copy number gain	not provided	GLikely benign
Select item 564377	GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3	ABR, ACADVL +240 more	Copy number gain	not provided	GPathogenic
Select item 443869	GRCh37/hg19 17p13.2(chr17:5871307-6472074)x4	AIPL1, PIMREG +2 more	Copy number gain	See cases	GUncertain significance
Select item 443659	GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3	ABR, ACADVL +250 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395716	GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)	AIPL1, ALOX15 +115 more	Copy number gain	See cases	GPathogenic

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Items: 73