ClinVar for Gene (Select 50489) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264773	NM_015717.5(CD207):c.608A>C (p.Lys203Thr)	CD207 (K203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264772	NM_015717.5(CD207):c.818A>G (p.Asn273Ser)	CD207 (N273S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264770	NM_015717.5(CD207):c.365A>G (p.Gln122Arg)	CD207 (Q122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140436	NM_015717.5(CD207):c.980A>C (p.Glu327Ala)	CD207, LOC126806248 (E327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140434	NM_015717.5(CD207):c.881A>C (p.His294Pro)	CD207, LOC126806248 (H294P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140433	NM_015717.5(CD207):c.860A>G (p.Asn287Ser)	CD207, LOC126806248 (N287S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140432	NM_015717.5(CD207):c.848C>T (p.Pro283Leu)	CD207, LOC126806248 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140431	NM_015717.5(CD207):c.809C>T (p.Thr270Met)	CD207 (T270M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140430	NM_015717.5(CD207):c.631C>G (p.Leu211Val)	CD207 (L211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140429	NM_015717.5(CD207):c.584T>C (p.Val195Ala)	CD207 (V195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140428	NM_015717.5(CD207):c.55A>T (p.Ile19Phe)	CD207 (I19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140427	NM_015717.5(CD207):c.46A>C (p.Lys16Gln)	CD207 (K16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140426	NM_015717.5(CD207):c.112A>G (p.Lys38Glu)	CD207 (K38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060971	NM_015717.5(CD207):c.984G>A (p.Pro328=)	CD207, LOC126806248	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
Select item 3060821	NM_015717.5(CD207):c.341A>T (p.Glu114Val)	CD207 (E114V)	Single nucleotide variant (missense variant)	CD207-related disorder	GBenign
Select item 3060755	NM_015717.5(CD207):c.406C>G (p.Gln136Glu)	CD207 (Q136E)	Single nucleotide variant (missense variant)	CD207-related disorder	GBenign
Select item 3060627	NM_015717.5(CD207):c.942G>A (p.Thr314=)	CD207, LOC126806248	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
Select item 3060462	NM_015717.5(CD207):c.234C>T (p.Val78=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
Select item 3059699	NM_015717.5(CD207):c.711T>C (p.Ser237=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
Select item 3059640	NM_015717.5(CD207):c.833T>C (p.Val278Ala)	CD207, LOC126806248 (V278A)	Single nucleotide variant (missense variant)	CD207-related disorder	GBenign
Select item 3059383	NM_015717.5(CD207):c.164C>T (p.Ala55Val)	CD207 (A55V)	Single nucleotide variant (missense variant)	CD207-related disorder	GBenign
Select item 3049037	NM_015717.5(CD207):c.183C>T (p.Ala61=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GLikely benign
Select item 2609147	NM_015717.5(CD207):c.743G>T (p.Gly248Val)	CD207 (G248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602377	NM_015717.5(CD207):c.389T>G (p.Val130Gly)	CD207 (V130G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595045	NM_015717.5(CD207):c.355G>A (p.Val119Met)	CD207 (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569089	NM_015717.5(CD207):c.573T>G (p.Ile191Met)	CD207 (I191M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568886	NM_015717.5(CD207):c.560G>A (p.Arg187Gln)	CD207 (R187Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2535520	NM_015717.5(CD207):c.512T>C (p.Ile171Thr)	CD207 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2472617	NM_015717.5(CD207):c.962G>A (p.Arg321Gln)	CD207, LOC126806248 (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464394	NM_015717.5(CD207):c.319G>A (p.Val107Ile)	CD207 (V107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 2399376	NM_015717.5(CD207):c.196C>T (p.Arg66Trp)	CD207 (R66W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372832	NM_015717.5(CD207):c.737C>T (p.Ala246Val)	CD207 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314655	NM_015717.5(CD207):c.149C>T (p.Thr50Met)	CD207 (T50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290886	NM_015717.5(CD207):c.967T>C (p.Tyr323His)	CD207, LOC126806248 (Y323H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290327	NM_015717.5(CD207):c.236A>G (p.Gln79Arg)	CD207 (Q79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287533	NM_015717.5(CD207):c.526G>A (p.Gly176Ser)	CD207 (G176S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2246474	NM_015717.5(CD207):c.962G>T (p.Arg321Leu)	CD207, LOC126806248 (R321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238631	NM_015717.5(CD207):c.332T>C (p.Met111Thr)	CD207 (M111T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2231078	NM_015717.5(CD207):c.163G>A (p.Ala55Thr)	CD207 (A55T)	Single nucleotide variant (missense variant)	not specified	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 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	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 767804	NM_015717.5(CD207):c.197G>A (p.Arg66Gln)	CD207 (R66Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625908	NM_015717.5(CD207):c.402C>T (p.Asn134=)	CD207	Single nucleotide variant (synonymous variant)	Birbeck granule deficiency	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 402516	NM_015717.4(CD207):c.73dup (p.Glu25Glyfs)	CD207	Duplication	not specified	GBenign
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 144474	GRCh38/hg38 2p13.3-13.2(chr2:70709155-72346899)x3	ADD2, ANKRD53 +48 more	Copy number gain	See cases	GUncertain significance
Select item 5337	NM_015717.5(CD207):c.790T>C (p.Trp264Arg)	CD207 (W264R)	Single nucleotide variant (missense variant)	Birbeck granule deficiency	GUncertain significance

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Links from Gene

Items: 56