"Ambry Genetics"[submitter] AND "ACO2"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264756	NM_001098.3(ACO2):c.123G>T (p.Glu41Asp)	ACO2 (E41D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263264	NM_001098.3(ACO2):c.305C>T (p.Thr102Met)	ACO2 (T102M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480504	NM_001098.3(ACO2):c.466A>G (p.Thr156Ala)	ACO2 (T156A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272110	NM_001098.3(ACO2):c.694G>C (p.Val232Leu)	ACO2 (V232L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543378	NM_001098.3(ACO2):c.926A>C (p.Lys309Thr)	ACO2 (K309T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 860849	NM_001098.3(ACO2):c.950A>G (p.Asn317Ser)	ACO2 (N317S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2284844	NM_001098.3(ACO2):c.955G>A (p.Ala319Thr)	ACO2 (A319T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520988	NM_001098.3(ACO2):c.988C>T (p.Pro330Ser)	ACO2 (P330S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2231515	NM_001098.3(ACO2):c.1177A>T (p.Met393Leu)	ACO2 (M393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 224988	NM_001098.3(ACO2):c.1181G>A (p.Gly394Glu)	ACO2 (G394E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2293846	NM_001098.3(ACO2):c.1262A>G (p.Glu421Gly)	ACO2 (E421G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434114	NM_001098.3(ACO2):c.1291G>A (p.Gly431Ser)	ACO2 (G431S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1948787	NM_001098.3(ACO2):c.1498G>A (p.Ala500Thr)	ACO2 (A500T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017738	NM_001098.3(ACO2):c.1605+5G>C	ACO2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2228705	NM_001098.3(ACO2):c.1613A>T (p.Asp538Val)	ACO2, LOC130067544 (D538V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1418114	NM_001098.3(ACO2):c.1708C>A (p.Pro570Thr)	ACO2, LOC130067544 (P570T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 225015	NM_001098.3(ACO2):c.1722G>C (p.Trp574Cys)	LOC130067544, ACO2 (W574C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1059325	NM_001098.3(ACO2):c.1924C>T (p.Pro642Ser)	ACO2, POLR3H (P642S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 520987	NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs)	ACO2, POLR3H (Q702fs)	Deletion (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1956614	NM_001018050.4(POLR3H):c.*1256C>A	ACO2, POLR3H	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 727506	NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys)	ACO2, POLR3H (E760K)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 21