ClinVar for Gene (Select 222) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109627	NM_001393402.2(ALDH3B2):c.800T>C (p.Val267Ala)	ALDH3B2 (V267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109623	NM_001393402.2(ALDH3B2):c.734A>G (p.Glu245Gly)	ALDH3B2 (E245G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109615	NM_001393402.2(ALDH3B2):c.688G>A (p.Glu230Lys)	ALDH3B2 (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109596	NM_001393402.2(ALDH3B2):c.500A>C (p.Asp167Ala)	ALDH3B2 (D167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109591	NM_001393402.2(ALDH3B2):c.490G>A (p.Val164Met)	ALDH3B2 (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109577	NM_001393402.2(ALDH3B2):c.193A>G (p.Thr65Ala)	ALDH3B2 (T65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109574	NM_001393402.2(ALDH3B2):c.139G>A (p.Ala47Thr)	ALDH3B2 (A47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109568	NM_001393402.2(ALDH3B2):c.1121G>A (p.Arg374His)	ALDH3B2 (R374H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2613127	NM_001393402.2(ALDH3B2):c.1148C>T (p.Thr383Ile)	ALDH3B2 (T383I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548396	NM_001393402.2(ALDH3B2):c.709C>T (p.Pro237Ser)	ALDH3B2 (P237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545343	NM_001393402.2(ALDH3B2):c.610A>T (p.Ile204Phe)	ALDH3B2 (I204F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495064	NM_001393402.2(ALDH3B2):c.841C>G (p.Leu281Val)	ALDH3B2 (L281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456561	NM_001393402.2(ALDH3B2):c.568T>A (p.Phe190Ile)	ALDH3B2 (F190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2402837	NM_001393402.2(ALDH3B2):c.907G>A (p.Gly303Ser)	ALDH3B2 (G303S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386962	NM_001393402.2(ALDH3B2):c.240C>G (p.Ser80Arg)	ALDH3B2 (S80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385977	NM_001393402.2(ALDH3B2):c.505G>A (p.Val169Ile)	ALDH3B2 (V169I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376577	NM_001393402.2(ALDH3B2):c.853G>A (p.Ala285Thr)	ALDH3B2 (A285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373872	NM_001393402.2(ALDH3B2):c.262G>A (p.Gly88Arg)	ALDH3B2 (G88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373584	NM_001393402.2(ALDH3B2):c.1057G>A (p.Gly353Ser)	ALDH3B2 (G353S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366356	NM_001393402.2(ALDH3B2):c.449G>A (p.Arg150His)	ALDH3B2 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365613	NM_001393402.2(ALDH3B2):c.808G>A (p.Ala270Thr)	ALDH3B2 (A270T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360646	NM_001393402.2(ALDH3B2):c.694G>A (p.Asp232Asn)	ALDH3B2 (D232N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360558	NM_001393402.2(ALDH3B2):c.16C>T (p.Arg6Trp)	ALDH3B2 (R6W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359832	NM_001393402.2(ALDH3B2):c.412G>A (p.Val138Met)	ALDH3B2 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351042	NM_001393402.2(ALDH3B2):c.99G>C (p.Trp33Cys)	ALDH3B2 (W33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349900	NM_001393402.2(ALDH3B2):c.501C>G (p.Asp167Glu)	ALDH3B2 (D167E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344355	NM_001393402.2(ALDH3B2):c.160G>A (p.Val54Met)	ALDH3B2 (V54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318720	NM_001393402.2(ALDH3B2):c.67C>A (p.Pro23Thr)	ALDH3B2 (P23T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278803	NM_001393402.2(ALDH3B2):c.293A>T (p.His98Leu)	ALDH3B2 (H98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260337	NM_001393402.2(ALDH3B2):c.454G>A (p.Ala152Thr)	ALDH3B2 (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218048	NM_001393402.2(ALDH3B2):c.145G>A (p.Ala49Thr)	ALDH3B2 (A49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207950	NM_001393402.2(ALDH3B2):c.799G>A (p.Val267Met)	ALDH3B2 (V267M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206879	NM_001393402.2(ALDH3B2):c.830A>G (p.Gln277Arg)	ALDH3B2 (Q277R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206847	NM_001393402.2(ALDH3B2):c.1099G>A (p.Asp367Asn)	ALDH3B2 (D367N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815437	GRCh37/hg19 11q13.2(chr11:66820585-67979510)x3	ALDH3B2, ACY3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 687044	GRCh37/hg19 11q13.2(chr11:67081259-67471729)x3	ACY3, AIP +21 more	Copy number gain	not provided	GUncertain significance
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 157206	NC_000011.10:g.67606198_67820541dup	ACY3, ALDH3B2 +21 more	Duplication	Normal pregnancy	Gnot provided
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 144730	GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3	ACY3, ALDH3B2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 57210	GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3	ACY3, ALDH3B2 +21 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 53