5161[geneid] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 2525751	NM_005390.5(PDHA2):c.16A>T (p.Ile6Phe)	PDHA2 (I6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210856	NM_005390.5(PDHA2):c.22C>A (p.Arg8Ser)	PDHA2 (R8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210857	NM_005390.5(PDHA2):c.25G>A (p.Val9Met)	PDHA2 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395024	NM_005390.5(PDHA2):c.53C>T (p.Ala18Val)	PDHA2 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654959	NM_005390.5(PDHA2):c.62T>A (p.Val21Glu)	PDHA2 (V21E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2550757	NM_005390.5(PDHA2):c.95C>T (p.Ala32Val)	PDHA2 (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210858	NM_005390.5(PDHA2):c.301G>C (p.Gly101Arg)	PDHA2 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570560	NM_005390.5(PDHA2):c.313G>A (p.Gly105Ser)	PDHA2 (G105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210859	NM_005390.5(PDHA2):c.347A>G (p.Tyr116Cys)	PDHA2 (Y116C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210860	NM_005390.5(PDHA2):c.373C>T (p.Arg125Trp)	PDHA2 (R125W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250325	NM_005390.5(PDHA2):c.556G>A (p.Glu186Lys)	PDHA2 (E186K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454875	NM_005390.5(PDHA2):c.568A>G (p.Thr190Ala)	PDHA2 (T190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275391	NM_005390.5(PDHA2):c.568A>C (p.Thr190Pro)	PDHA2 (T190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258928	NM_005390.5(PDHA2):c.604A>G (p.Ile202Val)	PDHA2 (I202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613484	NM_005390.5(PDHA2):c.664A>G (p.Asn222Asp)	PDHA2 (N222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 446251	NM_005390.5(PDHA2):c.679A>G (p.Met227Val)	PDHA2 (M227V)	Single nucleotide variant (missense variant)	Spermatogenic failure 70 +2 more	GPathogenic
Select item 2487131	NM_005390.5(PDHA2):c.742C>T (p.Pro248Ser)	PDHA2 (P248S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571210	NM_005390.5(PDHA2):c.857G>C (p.Arg286Pro)	PDHA2 (R286P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2346177	NM_005390.5(PDHA2):c.866G>C (p.Gly289Ala)	PDHA2 (G289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616290	NM_005390.5(PDHA2):c.1040C>G (p.Ala347Gly)	PDHA2 (A347G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210855	NM_005390.5(PDHA2):c.1111T>A (p.Ser371Thr)	PDHA2 (S371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334185	NM_005390.5(PDHA2):c.1159G>T (p.Val387Phe)	PDHA2 (V387F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685120	GRCh37/hg19 4q22.3(chr4:96076813-97410812)x1	BMPR1B, PDHA2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340958	GRCh37/hg19 4q22.3(chr4:96528246-96804793)x1	PDHA2	Copy number loss	not provided	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 929389	GRCh37/hg19 4q22.3(chr4:96376995-96828109)x1	PDHA2, UNC5C	Copy number loss	See cases	GUncertain significance
Select item 562945	GRCh37/hg19 4q22.1-22.3(chr4:90005204-96971785)x1	CCSER1, UNC5C +11 more	Copy number loss	not provided	GPathogenic
Select item 443904	GRCh37/hg19 4q22.1-22.3(chr4:89891197-98235479)x1	ATOH1, BMPR1B +12 more	Copy number loss	See cases	GLikely pathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 40