30908[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 144513	GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1	CMPK2, GRASLND +50 more	Copy number loss	See cases	GLikely pathogenic
Select item 1679722	Single allele	CMPK2, GRASLND +32 more	Duplication	not provided	GUncertain significance
Select item 58837	GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3	CMPK2, GRASLND +31 more	Copy number gain	See cases	GUncertain significance
Select item 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 767780	NM_080657.5(RSAD2):c.12T>C (p.Leu4=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3315504	NM_080657.5(RSAD2):c.64A>C (p.Ser22Arg)	RSAD2 (S22R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779067	NM_080657.5(RSAD2):c.90G>A (p.Pro30=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 721144	NM_080657.5(RSAD2):c.125T>G (p.Leu42Arg)	RSAD2 (L42R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3156580	NM_080657.5(RSAD2):c.227A>G (p.Asn76Ser)	RSAD2 (N76S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592367	NM_080657.5(RSAD2):c.242G>A (p.Arg81His)	RSAD2 (R81H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156581	NM_080657.5(RSAD2):c.352G>C (p.Glu118Gln)	RSAD2 (E118Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780335	NM_080657.5(RSAD2):c.420G>A (p.Val140=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3156582	NM_080657.5(RSAD2):c.512A>G (p.Glu171Gly)	RSAD2 (E103G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156583	NM_080657.5(RSAD2):c.521A>G (p.Asp174Gly)	RSAD2 (D174G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156584	NM_080657.5(RSAD2):c.530C>T (p.Ala177Val)	RSAD2 (A109V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247389	NM_080657.5(RSAD2):c.532A>G (p.Ile178Val)	RSAD2 (I178V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156585	NM_080657.5(RSAD2):c.572T>C (p.Ile191Thr)	RSAD2 (I191T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650642	NM_080657.5(RSAD2):c.603G>A (p.Val201=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3156586	NM_080657.5(RSAD2):c.626G>A (p.Arg209Lys)	RSAD2 (R141K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354404	NM_080657.5(RSAD2):c.649G>A (p.Ala217Thr)	RSAD2 (A217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604565	NM_080657.5(RSAD2):c.711C>G (p.Ile237Met)	RSAD2 (I169M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305053	NM_080657.5(RSAD2):c.724C>T (p.Pro242Ser)	RSAD2 (P174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262262	NM_080657.5(RSAD2):c.769A>T (p.Asn257Tyr)	RSAD2 (N189Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267874	NM_080657.5(RSAD2):c.785C>T (p.Ala262Val)	RSAD2 (A194V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271379	NM_080657.5(RSAD2):c.818A>G (p.Asp273Gly)	RSAD2 (D205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156587	NM_080657.5(RSAD2):c.835T>C (p.Phe279Leu)	RSAD2 (F279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315505	NM_080657.5(RSAD2):c.899C>T (p.Ser300Phe)	RSAD2 (S232F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541744	NM_080657.5(RSAD2):c.959C>T (p.Pro320Leu)	RSAD2 (P252L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271819	NM_080657.5(RSAD2):c.1051A>G (p.Ile351Val)	RSAD2 (I283V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2664507	GRCh37/hg19 2p25.2-25.1(chr2:5689487-7379378)x3	CMPK2, RNF144A +2 more	Copy number gain	Syndromic craniosynostosis	GLikely pathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1807910	GRCh37/hg19 2p25.2-25.1(chr2:6765428-7101997)x3	CMPK2, RNF144A +1 more	Copy number gain	not provided	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 1340114	GRCh37/hg19 2p25.2-25.1(chr2:6297801-7555446)x3	CMPK2, RNF144A +1 more	Copy number gain	not provided	GUncertain significance
Select item 814215	GRCh37/hg19 2p25.2(chr2:6750679-7030957)x1	RSAD2, CMPK2	Copy number loss	not provided	GUncertain significance
Select item 686549	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 686548	GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3	ACP1, ADI1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562636	GRCh37/hg19 2p25.2-25.1(chr2:6295523-7555446)x3	RNF144A, RSAD2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
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 441112	GRCh37/hg19 2p25.2-25.1(chr2:4500550-7378329)x1	CMPK2, RNF144A +2 more	Copy number loss	not provided	Gnot provided

ClinVar

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Items: 54