CD207[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
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 3060971	NM_015717.5(CD207):c.984G>A (p.Pro328=)	CD207, LOC126806248	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
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 2290886	NM_015717.5(CD207):c.967T>C (p.Tyr323His)	CD207, LOC126806248 (Y323H)	Single nucleotide variant (missense variant)	not specified	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 2246474	NM_015717.5(CD207):c.962G>T (p.Arg321Leu)	CD207, LOC126806248 (R321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3059640	NM_015717.5(CD207):c.833T>C (p.Val278Ala)	CD207, LOC126806248 (V278A)	Single nucleotide variant (missense variant)	CD207-related disorder	GBenign
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 3140431	NM_015717.5(CD207):c.809C>T (p.Thr270Met)	CD207 (T270M)	Single nucleotide variant (missense variant)	not specified	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
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 2372832	NM_015717.5(CD207):c.737C>T (p.Ala246Val)	CD207 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059699	NM_015717.5(CD207):c.711T>C (p.Ser237=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
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 3264773	NM_015717.5(CD207):c.608A>C (p.Lys203Thr)	CD207 (K203T)	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 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 2287533	NM_015717.5(CD207):c.526G>A (p.Gly176Ser)	CD207 (G176S)	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 3060755	NM_015717.5(CD207):c.406C>G (p.Gln136Glu)	CD207 (Q136E)	Single nucleotide variant (missense variant)	CD207-related disorder	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 2602377	NM_015717.5(CD207):c.389T>G (p.Val130Gly)	CD207 (V130G)	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 2595045	NM_015717.5(CD207):c.355G>A (p.Val119Met)	CD207 (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2238631	NM_015717.5(CD207):c.332T>C (p.Met111Thr)	CD207 (M111T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2290327	NM_015717.5(CD207):c.236A>G (p.Gln79Arg)	CD207 (Q79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060462	NM_015717.5(CD207):c.234C>T (p.Val78=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GBenign
Select item 767804	NM_015717.5(CD207):c.197G>A (p.Arg66Gln)	CD207 (R66Q)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3049037	NM_015717.5(CD207):c.183C>T (p.Ala61=)	CD207	Single nucleotide variant (synonymous variant)	CD207-related disorder	GLikely benign
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 2231078	NM_015717.5(CD207):c.163G>A (p.Ala55Thr)	CD207 (A55T)	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 3140426	NM_015717.5(CD207):c.112A>G (p.Lys38Glu)	CD207 (K38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402516	NM_015717.4(CD207):c.73dup (p.Glu25Glyfs)	CD207	Duplication	not specified	GBenign
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 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	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 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56