25837[Gene ID] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	OR1F1, OR2C1 +916 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC130058195, LOC130058196 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	RMI2, RNF151 +842 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058340, LOC130058341 +925 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696838	NC_000016.10:g.2066081_2241220del	BRICD5, CASKIN1 +33 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 495325	NC_000016.10:g.2077605_2284389dup	ABCA3, BRICD5 +44 more	Duplication	Endometrial carcinoma	GUncertain significance
Select item 2349564	NM_014353.5(RAB26):c.40A>C (p.Thr14Pro)	RAB26 (T14P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348054	NM_014353.5(RAB26):c.82C>T (p.Pro28Ser)	RAB26 (P28S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302846	NM_014353.5(RAB26):c.184G>A (p.Val62Ile)	RAB26 (V62I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216232	NM_014353.5(RAB26):c.190T>C (p.Phe64Leu)	RAB26 (F64L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550351	NM_014353.5(RAB26):c.193A>C (p.Lys65Gln)	RAB26 (K65Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607039	NM_014353.5(RAB26):c.203T>C (p.Leu68Pro)	RAB26 (L2P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304682	NM_014353.5(RAB26):c.253G>A (p.Asp85Asn)	RAB26 (D19N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608219	NM_014353.5(RAB26):c.298G>C (p.Asp100His)	RAB26 (D100H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602273	NM_014353.5(RAB26):c.321C>A (p.Asp107Glu)	RAB26 (D41E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514807	NM_014353.5(RAB26):c.334A>C (p.Lys112Gln)	RAB26 (K112Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508039	NM_014353.5(RAB26):c.356A>G (p.Asp119Gly)	RAB26 (D119G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243857	NM_014353.5(RAB26):c.380G>A (p.Arg127His)	RAB26 (R127H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355269	NM_014353.5(RAB26):c.508G>A (p.Val170Met)	RAB26 (V104M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369439	NM_014353.5(RAB26):c.622G>A (p.Ala208Thr)	RAB26 (A208T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519369	NM_014353.5(RAB26):c.627G>C (p.Lys209Asn)	RAB26 (K209N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236632	NM_014353.5(RAB26):c.690G>A (p.Met230Ile)	RAB26 (M164I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379133	NM_014353.5(RAB26):c.703G>A (p.Glu235Lys)	RAB26 (E169K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290945	NM_014353.5(RAB26):c.709C>T (p.Arg237Cys)	RAB26 (R237C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595621	NM_014353.5(RAB26):c.715C>T (p.Arg239Trp)	RAB26 (R239W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589088	NM_014353.5(RAB26):c.716G>A (p.Arg239Gln)	RAB26 (R173Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303865	NM_014353.5(RAB26):c.725A>T (p.Asp242Val)	RAB26 (D176V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265966	NM_014353.5(RAB26):c.737G>A (p.Arg246Lys)	RAB26 (R246K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507924	NM_014353.5(RAB26):c.764G>A (p.Arg255His)	RAB26 (R189H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063473	GRCh37/hg19 16p13.3(chr16:2130809-2285561)x1	BRICD5, CASKIN1 +8 more	Copy number loss	not specified	GPathogenic
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	PRSS21, PRSS22 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 1809088	GRCh37/hg19 16p13.3(chr16:2106895-2227470)x1	CASKIN1, MIR1225 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808520	GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	ABCA3, AMDHD2 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1807728	GRCh37/hg19 16p13.3(chr16:2021144-2266791)x1	BRICD5, CASKIN1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1010653	NC_000016.9:g.(?_2098597)_(2550979_?)dup	ABCA3, BRICD5 +16 more	Duplication	Developmental and epileptic encephalopathy, 1 +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 978067	Single allele	BRICD5, CASKIN1 +7 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 976820	Single allele	PKD1, RAB26	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	ABCA3, ANTKMT +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 813321	GRCh37/hg19 16p13.3(chr16:2162341-2203046)	PKD1, RAB26	Copy number loss	Polycystic kidney disease, adult type	GPathogenic
Select item 685170	GRCh37/hg19 16p13.3(chr16:2070917-2592737)x3	ABCA3, AMDHD2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 560100	Single allele	DNASE1L2, E4F1 +16 more	Duplication	not provided	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	ADAD2, ADAMTS18 +810 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	ABAT, ABCA3 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	ABAT, ABCA3 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	KCTD13, KCTD19 +810 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253688	GRCh37/hg19 16p13.3(chr16:2188712-2580690)x4	CEMP1, E4F1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 71