"Ambry Genetics"[submitter] AND "HSP90AB1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2607163	NM_007355.4(HSP90AB1):c.226A>C (p.Ile76Leu)	HSP90AB1, POLR1C (I76L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353662	NM_007355.4(HSP90AB1):c.244C>T (p.Arg82Cys)	HSP90AB1, POLR1C (R82C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224272	NM_007355.4(HSP90AB1):c.295A>G (p.Ile99Val)	HSP90AB1, POLR1C (I99V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2559438	NM_007355.4(HSP90AB1):c.502C>T (p.Arg168Cys)	HSP90AB1, POLR1C (R120C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611870	NM_007355.4(HSP90AB1):c.688G>A (p.Ala230Thr)	HSP90AB1, POLR1C (A220T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541534	NM_007355.4(HSP90AB1):c.964T>G (p.Ser322Ala)	HSP90AB1, POLR1C (S312A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373787	NM_007355.4(HSP90AB1):c.1345C>T (p.Arg449Cys)	HSP90AB1, POLR1C (R449C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2593354	NM_007355.4(HSP90AB1):c.1372C>T (p.His458Tyr)	HSP90AB1, POLR1C (H458Y +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391746	NM_007355.4(HSP90AB1):c.1390G>A (p.Asp464Asn)	HSP90AB1, POLR1C (D454N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550574	NM_007355.4(HSP90AB1):c.1517G>A (p.Arg506Gln)	HSP90AB1, POLR1C (R496Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556503	NM_007355.4(HSP90AB1):c.1655A>T (p.Lys552Met)	HSP90AB1, POLR1C (K552M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546486	NM_007355.4(HSP90AB1):c.1984G>A (p.Ala662Thr)	HSP90AB1, POLR1C (A614T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325108	NM_007355.4(HSP90AB1):c.2008C>G (p.Leu670Val)	HSP90AB1, POLR1C (L622V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance