ClinVar for Gene (Select 91543) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 2650642	NM_080657.5(RSAD2):c.603G>A (p.Val201=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 1679722	Single allele	CMPK2, GRASLND +32 more	Duplication	not provided	GUncertain significance
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 780335	NM_080657.5(RSAD2):c.420G>A (p.Val140=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 779067	NM_080657.5(RSAD2):c.90G>A (p.Pro30=)	RSAD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767780	NM_080657.5(RSAD2):c.12T>C (p.Leu4=)	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 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
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	ATAD2B, ATP6V1C2 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	ABHD1, ACP1 +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 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	ADAM17, ADI1 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933312, LOC129933313 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	C2orf48, C2orf50 +893 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 60105	GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1	ADAM17, ASAP2 +297 more	Copy number loss	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 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 58837	GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3	CMPK2, GRASLND +31 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52