33543[HGNC] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 150754	GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3	CCDC138, CD8B2 +99 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 152716	GRCh38/hg38 2q12.3(chr2:107901810-108472871)x3	GCC2, LINC01593 +9 more	Copy number gain	See cases	GUncertain significance
Select item 150238	GRCh38/hg38 2q12.3(chr2:107924122-108472871)x3	GCC2, LINC01593 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148503	GRCh38/hg38 2q12.3(chr2:107924122-108509089)x1	GCC2, GCC2-AS1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 144754	GRCh38/hg38 2q12.3-13(chr2:107962353-109700179)x1	CCDC138, EDAR +67 more	Copy number loss	See cases	GUncertain significance
Select item 464169	Single allele	CCDC138, EDAR +31 more	Duplication	Congenital myasthenic syndrome 20 +1 more	GUncertain significance
Select item 3172064	NM_001320878.2(SULT1C3):c.5C>T (p.Ala2Val)	SULT1C3 (A2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229071	NM_001320878.2(SULT1C3):c.11T>C (p.Ile4Thr)	SULT1C3 (I4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495550	NM_001320878.2(SULT1C3):c.41A>G (p.Lys14Arg)	SULT1C3 (K14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403503	NM_001320878.2(SULT1C3):c.108G>A (p.Trp36Ter)	SULT1C3 (W36*)	Single nucleotide variant (nonsense)	not specified +1 more	GBenign
Select item 2250113	NM_001320878.2(SULT1C3):c.135G>C (p.Lys45Asn)	SULT1C3 (K45N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618440	NM_001320878.2(SULT1C3):c.155C>A (p.Ala52Glu)	SULT1C3 (A52E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172057	NM_001320878.2(SULT1C3):c.179C>A (p.Thr60Lys)	SULT1C3 (T60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323602	NM_001320878.2(SULT1C3):c.202A>G (p.Met68Val)	SULT1C3 (M68V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273729	NM_001320878.2(SULT1C3):c.206T>G (p.Ile69Ser)	SULT1C3 (I69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172058	NM_001320878.2(SULT1C3):c.228G>C (p.Glu76Asp)	SULT1C3 (E76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784989	NM_001320878.2(SULT1C3):c.262G>A (p.Ala88Thr)	SULT1C3 (A88T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3172059	NM_001320878.2(SULT1C3):c.313G>A (p.Val105Ile)	SULT1C3 (V105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172060	NM_001320878.2(SULT1C3):c.337C>A (p.Leu113Met)	SULT1C3 (L113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172061	NM_001320878.2(SULT1C3):c.394T>A (p.Cys132Ser)	SULT1C3 (C132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172062	NM_001320878.2(SULT1C3):c.430T>C (p.Cys144Arg)	SULT1C3 (C144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330071	NM_001320878.2(SULT1C3):c.515T>C (p.Met172Thr)	SULT1C3 (M172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323604	NM_001320878.2(SULT1C3):c.518C>G (p.Ser173Cys)	SULT1C3 (S173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491805	NM_001320878.2(SULT1C3):c.532G>A (p.Gly178Ser)	SULT1C3 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172063	NM_001320878.2(SULT1C3):c.582G>A (p.Met194Ile)	SULT1C3 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303881	NM_001320878.2(SULT1C3):c.582G>T (p.Met194Ile)	SULT1C3 (M194I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273396	NM_001320878.2(SULT1C3):c.587G>A (p.Arg196Gln)	SULT1C3 (R196Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 767813	NM_001320878.2(SULT1C3):c.607G>A (p.Glu203Lys)	SULT1C3 (E203K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3323603	NM_001008743.3(SULT1C3):c.667G>T (p.Asp223Tyr)	SULT1C3 (D223Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394757	NM_001008743.3(SULT1C3):c.697A>G (p.Ile233Val)	SULT1C3 (I233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323600	NM_001008743.3(SULT1C3):c.767T>C (p.Ile256Thr)	SULT1C3 (I256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491511	NM_001008743.3(SULT1C3):c.788C>G (p.Pro263Arg)	SULT1C3 (P263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323601	NM_001008743.3(SULT1C3):c.879G>A (p.Met293Ile)	SULT1C3 (M293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172066	NM_001008743.3(SULT1C3):c.902G>T (p.Arg301Leu)	SULT1C3 (R301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224121	NM_001008743.3(SULT1C3):c.902G>A (p.Arg301His)	SULT1C3 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062653	GRCh37/hg19 2q12.2-12.3(chr2:107468050-109530903)x1	CCDC138, EDAR +9 more	Copy number loss	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062558	GRCh37/hg19 2q12.2-13(chr2:107032426-113111856)x1	ACOXL, ANAPC1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062469	GRCh37/hg19 2q12.3-13(chr2:108526025-110504319)x3	CCDC138, EDAR +9 more	Copy number gain	not specified	GUncertain significance
Select item 2685861	GRCh37/hg19 2q12.3-13(chr2:108534031-111365996)x3	CCDC138, EDAR +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684642	GRCh37/hg19 2q12.2-13(chr2:107029681-113127751)x1	ACOXL, ANAPC1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2426740	NC_000002.11:g.(?_108604612)_(109579739_?)del	CCDC138, EDAR +7 more	Deletion	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 2425552	NC_000002.11:g.(?_108604612)_(109579739_?)dup	CCDC138, EDAR +7 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1704648	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)x3	CCDC138, EDAR +10 more	Copy number gain	MISSED ABORTION	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526887	GRCh37/hg19 2q12.3(chr2:108513707-109127929)	GCC2, SLC5A7 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526886	GRCh37/hg19 2q12.3-13(chr2:108446955-110504318)	CCDC138, EDAR +10 more	Copy number loss	not specified	GPathogenic
Select item 1444169	NC_000002.11:g.(?_108604612)_(109378671_?)dup	GCC2, LIMS1 +5 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 1340973	GRCh37/hg19 2q12.2-12.3(chr2:107020782-110068385)x1	CCDC138, EDAR +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340132	GRCh37/hg19 2q12.3(chr2:108534031-109132283)x3	GCC2, SLC5A7 +3 more	Copy number gain	not provided	GLikely benign
Select item 1064222	NC_000002.11:g.(?_108604612)_(109336154_?)dup	GCC2, LIMS1 +5 more	Duplication	Familial acute necrotizing encephalopathy	GUncertain significance
Select item 980469	GRCh37/hg19 2q12.2-13(chr2:107029680-113187742)x1	ANAPC1, SULT1C4 +28 more	Copy number loss	not provided	GPathogenic
Select item 833287	NC_000002.12:g.(?_107988146)_(108963283_?)dup	CCDC138, EDAR +7 more	Duplication	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 830541	NC_000002.12:g.(?_107988146)_(108963283_?)del	SULT1C2, SULT1C3 +7 more	Deletion	Neuronopathy, distal hereditary motor, type 7A +1 more	GUncertain significance
Select item 814292	GRCh37/hg19 2q12.3-13(chr2:108499809-110504318)x1	SULT1C4, GCC2 +10 more	Copy number loss	not provided	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562663	GRCh37/hg19 2q12.2-13(chr2:107020782-111365996)x1	NPHP1, CCDC138 +18 more	Copy number loss	not provided	GLikely pathogenic
Select item 562653	GRCh37/hg19 2q12.3-13(chr2:108501887-110504318)x3	SEPTIN10, SOWAHC +10 more	Copy number gain	not provided	GUncertain significance
Select item 560135	Single allele	ACOXL, BCL2L11 +20 more	Duplication	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443890	GRCh37/hg19 2q12.3(chr2:108526025-109127929)x3	GCC2, SLC5A7 +3 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441591	GRCh37/hg19 2q12.3-13(chr2:108534030-110492791)x3	CCDC138, EDAR +9 more	Copy number gain	See cases	GUncertain significance
Select item 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic

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Items: 73