ClinVar for Gene (Select 154150) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283728	NM_138574.4(HDGFL1):c.688G>A (p.Ala230Thr)	HDGFL1 (A230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283727	NM_138574.4(HDGFL1):c.340G>A (p.Gly114Ser)	HDGFL1 (G114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283726	NM_138574.4(HDGFL1):c.457C>T (p.Pro153Ser)	HDGFL1 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283725	NM_138574.4(HDGFL1):c.356C>T (p.Pro119Leu)	HDGFL1 (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104688	NM_138574.4(HDGFL1):c.724G>A (p.Ala242Thr)	HDGFL1 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104687	NM_138574.4(HDGFL1):c.65A>G (p.Tyr22Cys)	HDGFL1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104686	NM_138574.4(HDGFL1):c.613A>C (p.Ser205Arg)	HDGFL1 (S205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104685	NM_138574.4(HDGFL1):c.592C>T (p.Leu198Phe)	HDGFL1 (L198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104684	NM_138574.4(HDGFL1):c.400G>A (p.Asp134Asn)	HDGFL1 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104683	NM_138574.4(HDGFL1):c.280C>T (p.Pro94Ser)	HDGFL1 (P94S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104682	NM_138574.4(HDGFL1):c.209A>G (p.Asn70Ser)	HDGFL1 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2611102	NM_138574.4(HDGFL1):c.286G>A (p.Ala96Thr)	HDGFL1 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604110	NM_138574.4(HDGFL1):c.88G>C (p.Glu30Gln)	HDGFL1 (E30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559784	NM_138574.4(HDGFL1):c.669G>C (p.Glu223Asp)	HDGFL1 (E223D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538530	NM_138574.4(HDGFL1):c.527C>G (p.Ala176Gly)	HDGFL1 (A176G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530362	NM_138574.4(HDGFL1):c.13G>A (p.Gly5Ser)	HDGFL1 (G5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508399	NM_138574.4(HDGFL1):c.514G>A (p.Glu172Lys)	HDGFL1 (E172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468667	NM_138574.4(HDGFL1):c.8C>T (p.Ala3Val)	HDGFL1 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405368	NM_138574.4(HDGFL1):c.565A>C (p.Thr189Pro)	HDGFL1 (T189P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374133	NM_138574.4(HDGFL1):c.405C>G (p.Asp135Glu)	HDGFL1 (D135E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365050	NM_138574.4(HDGFL1):c.164G>A (p.Arg55His)	HDGFL1 (R55H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347728	NM_138574.4(HDGFL1):c.692A>G (p.Asp231Gly)	HDGFL1 (D231G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309601	NM_138574.4(HDGFL1):c.289T>G (p.Ser97Ala)	HDGFL1 (S97A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295442	NM_138574.4(HDGFL1):c.275A>G (p.Asp92Gly)	HDGFL1 (D92G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290492	NM_138574.4(HDGFL1):c.478C>T (p.Pro160Ser)	HDGFL1 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231173	NM_138574.4(HDGFL1):c.574G>T (p.Asp192Tyr)	HDGFL1 (D192Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144466	GRCh38/hg38 6p22.3-22.2(chr6:22519454-25226331)x1	ACOT13, ALDH5A1 +50 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37