CLEC4F[gene] - ClinVar

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Items: 52

	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 2559230	NM_173535.3(CLEC4F):c.1709C>T (p.Ser570Phe)	CLEC4F (S570F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145698	NM_173535.3(CLEC4F):c.1700T>C (p.Ile567Thr)	CLEC4F (I567T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612342	NM_173535.3(CLEC4F):c.1692G>T (p.Lys564Asn)	CLEC4F (K564N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323915	NM_173535.3(CLEC4F):c.1690A>G (p.Lys564Glu)	CLEC4F (K564E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775725	NM_173535.3(CLEC4F):c.1598G>A (p.Gly533Asp)	CLEC4F (G533D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145697	NM_173535.3(CLEC4F):c.1596G>C (p.Arg532Ser)	CLEC4F (R532S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346896	NM_173535.3(CLEC4F):c.1576T>C (p.Trp526Arg)	CLEC4F (W526R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209687	NM_173535.3(CLEC4F):c.1561A>G (p.Ser521Gly)	CLEC4F (S521G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262502	NM_173535.3(CLEC4F):c.1558A>G (p.Thr520Ala)	CLEC4F (T520A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493393	NM_173535.3(CLEC4F):c.1510C>A (p.Leu504Met)	CLEC4F (L504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207173	NM_173535.3(CLEC4F):c.1463A>G (p.Lys488Arg)	CLEC4F (K488R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145696	NM_173535.3(CLEC4F):c.1415G>A (p.Gly472Asp)	CLEC4F (G472D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595108	NM_173535.3(CLEC4F):c.1331G>T (p.Arg444Leu)	CLEC4F (R444L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406012	NM_173535.3(CLEC4F):c.1321G>A (p.Glu441Lys)	CLEC4F (E441K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471899	NM_173535.3(CLEC4F):c.1205C>G (p.Ala402Gly)	CLEC4F (A402G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145694	NM_173535.3(CLEC4F):c.1187G>A (p.Gly396Glu)	CLEC4F (G396E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267697	NM_173535.3(CLEC4F):c.1148T>C (p.Met383Thr)	CLEC4F (M383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775726	NM_173535.3(CLEC4F):c.1106T>C (p.Val369Ala)	CLEC4F (V369A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2208281	NM_173535.3(CLEC4F):c.1096A>G (p.Met366Val)	CLEC4F (M366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267698	NM_173535.3(CLEC4F):c.1093G>C (p.Glu365Gln)	CLEC4F (E365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308436	NM_173535.3(CLEC4F):c.736A>G (p.Ser246Gly)	CLEC4F (S246G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775727	NM_173535.3(CLEC4F):c.704C>T (p.Thr235Met)	CLEC4F (T235M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145703	NM_173535.3(CLEC4F):c.664G>A (p.Ala222Thr)	CLEC4F (A222T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350152	NM_173535.3(CLEC4F):c.617A>G (p.Glu206Gly)	CLEC4F (E206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145702	NM_173535.3(CLEC4F):c.598T>A (p.Phe200Ile)	CLEC4F (F200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305691	NM_173535.3(CLEC4F):c.553G>A (p.Glu185Lys)	CLEC4F (E185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334514	NM_173535.3(CLEC4F):c.537G>C (p.Glu179Asp)	CLEC4F (E179D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775728	NM_173535.3(CLEC4F):c.437A>G (p.Asn146Ser)	CLEC4F (N146S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3145701	NM_173535.3(CLEC4F):c.394A>G (p.Asn132Asp)	CLEC4F (N132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484095	NM_173535.3(CLEC4F):c.382G>C (p.Val128Leu)	CLEC4F (V128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145700	NM_173535.3(CLEC4F):c.292G>A (p.Ala98Thr)	CLEC4F (A98T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2493295	NM_173535.3(CLEC4F):c.185A>C (p.Gln62Pro)	CLEC4F (Q62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145699	NM_173535.3(CLEC4F):c.172G>C (p.Val58Leu)	CLEC4F (V58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145695	NM_173535.3(CLEC4F):c.118G>A (p.Ala40Thr)	CLEC4F (A40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363325	NM_173535.3(CLEC4F):c.112G>A (p.Val38Ile)	CLEC4F (V38I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2382125	NM_173535.3(CLEC4F):c.76G>A (p.Ala26Thr)	CLEC4F (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469699	NM_173535.3(CLEC4F):c.28A>G (p.Thr10Ala)	CLEC4F (T10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399031	NM_173535.3(CLEC4F):c.19C>G (p.Arg7Gly)	CLEC4F (R7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597023	NM_173535.3(CLEC4F):c.14C>T (p.Ala5Val)	CLEC4F (A5V)	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

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Items: 52