"Ambry Genetics"[submitter] AND "LOC130004634"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2266504	NM_006951.5(TAF5):c.257C>T (p.Pro86Leu)	LOC130004634, TAF5 (P86L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462546	NM_006951.5(TAF5):c.263C>T (p.Ala88Val)	LOC130004634, TAF5 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248198	NM_006951.5(TAF5):c.314G>A (p.Arg105Gln)	LOC130004634, TAF5 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324274	NM_006951.5(TAF5):c.377C>A (p.Ala126Glu)	LOC130004634, TAF5 (A126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558712	NM_006951.5(TAF5):c.418G>A (p.Gly140Ser)	LOC130004634, TAF5 (G140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173545	NM_006951.5(TAF5):c.428T>G (p.Val143Gly)	LOC130004634, TAF5 (V143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324272	NM_006951.5(TAF5):c.437C>T (p.Ala146Val)	LOC130004634, TAF5 (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244407	NM_006951.5(TAF5):c.466C>T (p.Pro156Ser)	LOC130004634, TAF5 (P156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227787	NM_006951.5(TAF5):c.479C>T (p.Ala160Val)	LOC130004634, TAF5 (A160V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375179	NM_006951.5(TAF5):c.550C>T (p.Pro184Ser)	LOC130004634, TAF5 (P184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance