16012[HGNC] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 2591514	NM_001202429.2(ASB2):c.1835G>A (p.Arg612His)	ASB2 (R564H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334081	NM_001202429.2(ASB2):c.1835G>T (p.Arg612Leu)	ASB2 (R564L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130169	NM_001202429.2(ASB2):c.1834C>T (p.Arg612Cys)	ASB2 (R564C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555928	NM_001202429.2(ASB2):c.1826G>T (p.Gly609Val)	ASB2 (G609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204975	NM_001202429.2(ASB2):c.1814G>A (p.Arg605Gln)	ASB2 (R557Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130168	NM_001202429.2(ASB2):c.1783C>A (p.Pro595Thr)	ASB2 (P595T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317542	NM_001202429.2(ASB2):c.1696A>G (p.Asn566Asp)	ASB2 (N518D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593468	NM_001202429.2(ASB2):c.1672G>A (p.Asp558Asn)	ASB2 (D510N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130167	NM_001202429.2(ASB2):c.1671C>G (p.Ile557Met)	ASB2 (I557M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496498	NM_001202429.2(ASB2):c.1666A>T (p.Ile556Phe)	ASB2 (I508F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603196	NM_001202429.2(ASB2):c.1589C>T (p.Ala530Val)	ASB2 (A530V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2338571	NM_001202429.2(ASB2):c.1589C>A (p.Ala530Glu)	ASB2 (A482E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130166	NM_001202429.2(ASB2):c.1577A>G (p.Asn526Ser)	ASB2 (N478S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130165	NM_001202429.2(ASB2):c.1573T>G (p.Phe525Val)	ASB2 (F477V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317532	NM_001202429.2(ASB2):c.1561C>G (p.Pro521Ala)	ASB2 (P473A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535806	NM_001202429.2(ASB2):c.1541C>A (p.Pro514Gln)	ASB2 (P466Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317511	NM_001202429.2(ASB2):c.1537G>C (p.Gly513Arg)	ASB2 (G465R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317552	NM_001202429.2(ASB2):c.1505G>A (p.Gly502Asp)	ASB2 (G502D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317563	NM_001202429.2(ASB2):c.1457T>C (p.Met486Thr)	ASB2 (M438T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556520	NM_001202429.2(ASB2):c.1436C>A (p.Pro479His)	ASB2 (P431H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610735	NM_001202429.2(ASB2):c.1390G>A (p.Gly464Ser)	ASB2 (G416S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605047	NM_001202429.2(ASB2):c.1359C>G (p.Cys453Trp)	ASB2 (C453W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374202	NM_001202429.2(ASB2):c.1358G>A (p.Cys453Tyr)	ASB2 (C405Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130162	NM_001202429.2(ASB2):c.1291C>A (p.Leu431Met)	ASB2 (L431M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370619	NM_001202429.2(ASB2):c.1249T>C (p.Phe417Leu)	ASB2 (F417L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130161	NM_001202429.2(ASB2):c.1228C>T (p.Arg410Trp)	ASB2 (R410W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605289	NM_001202429.2(ASB2):c.1163T>A (p.Leu388Gln)	ASB2 (L340Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317494	NM_001202429.2(ASB2):c.1143C>G (p.His381Gln)	ASB2 (H333Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130160	NM_001202429.2(ASB2):c.1135C>A (p.Arg379Ser)	ASB2 (R379S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130159	NM_001202429.2(ASB2):c.1033T>C (p.Ser345Pro)	ASB2 (S297P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512080	NM_001202429.2(ASB2):c.1019C>T (p.Pro340Leu)	ASB2 (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220112	NM_001202429.2(ASB2):c.1009G>A (p.Gly337Ser)	ASB2 (G289S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609480	NM_001202429.2(ASB2):c.993C>A (p.Asn331Lys)	ASB2 (N283K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473855	NM_001202429.2(ASB2):c.988G>A (p.Ala330Thr)	ASB2 (A282T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249528	NM_001202429.2(ASB2):c.913G>A (p.Ala305Thr)	ASB2 (A257T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317475	NM_001202429.2(ASB2):c.907G>A (p.Asp303Asn)	ASB2 (D255N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317522	NM_001202429.2(ASB2):c.898C>A (p.Gln300Lys)	ASB2 (Q252K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130176	NM_001202429.2(ASB2):c.845G>A (p.Gly282Glu)	ASB2 (G234E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558253	NM_001202429.2(ASB2):c.829G>C (p.Val277Leu)	ASB2 (V229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565567	NM_001202429.2(ASB2):c.790G>C (p.Val264Leu)	ASB2 (V216L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522102	NM_001202429.2(ASB2):c.730G>A (p.Glu244Lys)	ASB2 (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317505	NM_001202429.2(ASB2):c.709C>T (p.Arg237Cys)	ASB2 (R237C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130175	NM_001202429.2(ASB2):c.708C>A (p.Asn236Lys)	ASB2 (N188K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544029	NM_001202429.2(ASB2):c.685G>A (p.Ala229Thr)	ASB2 (A181T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400733	NM_001202429.2(ASB2):c.661G>A (p.Val221Met)	ASB2 (V173M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130174	NM_001202429.2(ASB2):c.644G>A (p.Arg215His)	ASB2 (R167H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252389	NM_001202429.2(ASB2):c.622C>T (p.Pro208Ser)	ASB2 (P160S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398468	NM_001202429.2(ASB2):c.591G>C (p.Glu197Asp)	ASB2 (E149D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323652	NM_001202429.2(ASB2):c.586G>A (p.Ala196Thr)	ASB2 (A148T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130173	NM_001202429.2(ASB2):c.526G>A (p.Val176Ile)	ASB2 (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130172	NM_001202429.2(ASB2):c.476G>A (p.Arg159Gln)	ASB2 (R111Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130171	NM_001202429.2(ASB2):c.458G>A (p.Cys153Tyr)	ASB2 (C105Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305432	NM_001202429.2(ASB2):c.449A>G (p.Gln150Arg)	ASB2 (Q102R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317467	NM_001202429.2(ASB2):c.446G>A (p.Gly149Asp)	ASB2 (G149D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234622	NM_001202429.2(ASB2):c.394G>A (p.Ala132Thr)	ASB2 (A132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206862	NM_001202429.2(ASB2):c.349G>A (p.Asp117Asn)	ASB2 (D117N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401304	NM_001202429.2(ASB2):c.341A>G (p.Lys114Arg)	ASB2 (K66R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260282	NM_001202429.2(ASB2):c.249G>A (p.Met83Ile)	ASB2 (M83I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589377	NM_001202429.2(ASB2):c.247A>G (p.Met83Val)	ASB2 (M35V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511246	NM_001202429.2(ASB2):c.233C>T (p.Pro78Leu)	ASB2 (P30L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130170	NM_001202429.2(ASB2):c.209C>T (p.Ser70Phe)	ASB2 (S70F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1526435	GRCh37/hg19 14q32.12-32.13(chr14:94442454-95185710)	ASB2, DDX24 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1526434	GRCh37/hg19 14q32.12-32.13(chr14:94400492-96192218)	PPP4R4, SERPINA1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 1348382	NC_000014.8:g.(?_93687728)_(95560403_?)del	ASB2, BTBD7 +23 more	Deletion	DICER1-related tumor predisposition	GLikely pathogenic
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441640	GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3	ASB2, BTBD7 +31 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 88