"Ambry Genetics"[submitter] AND "SAP25"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2568679	NM_001348680.2(SAP25):c.776C>G (p.Ser259Cys)	SAP25 (S161C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298443	NM_001348680.2(SAP25):c.671G>A (p.Arg224His)	SAP25 (R217H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261195	NM_001348680.2(SAP25):c.612G>A (p.Met204Ile)	SAP25 (M106I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292902	NM_001348680.2(SAP25):c.608A>C (p.Gln203Pro)	SAP25 (Q105P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208641	NM_001348680.2(SAP25):c.575G>A (p.Arg192His)	SAP25 (R185H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602522	NM_001348680.2(SAP25):c.574C>T (p.Arg192Cys)	SAP25 (R94C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522909	NM_001348680.2(SAP25):c.566G>A (p.Arg189Gln)	SAP25 (R182Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521523	NM_001348680.2(SAP25):c.566G>C (p.Arg189Pro)	SAP25 (R182P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514813	NM_001348680.2(SAP25):c.565C>T (p.Arg189Trp)	SAP25 (R182W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534983	NM_001348680.2(SAP25):c.491A>G (p.Gln164Arg)	SAP25 (Q164R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464628	NM_001348680.2(SAP25):c.460G>A (p.Val154Met)	SAP25 (V147M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358088	NM_001348680.2(SAP25):c.398C>T (p.Thr133Met)	SAP25 (T133M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398247	NM_001348680.2(SAP25):c.395G>A (p.Arg132Gln)	SAP25 (R125Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2377009	NM_001348680.2(SAP25):c.383C>T (p.Ser128Leu)	SAP25 (S30L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470860	NM_001348680.2(SAP25):c.346C>T (p.Arg116Trp)	SAP25 (R109W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357622	NM_001348680.2(SAP25):c.322A>G (p.Lys108Glu)	SAP25 (K108E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance