"Ambry Genetics"[submitter] AND "SAPCD1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369472	NM_001039651.2(SAPCD1):c.80G>A (p.Arg27His)	MSH5-SAPCD1, SAPCD1 (R27H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2250722	NM_001039651.2(SAPCD1):c.245C>A (p.Ala82Asp)	MSH5-SAPCD1, SAPCD1 (A82D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3157792	NM_001039651.2(SAPCD1):c.347A>T (p.Glu116Val)	MSH5-SAPCD1, SAPCD1 +1 more (E116V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2570332	NM_001039651.2(SAPCD1):c.359C>T (p.Pro120Leu)	MSH5-SAPCD1, SAPCD1 +1 more (P120L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2257918	NM_001039651.2(SAPCD1):c.370A>G (p.Asn124Asp)	MSH5-SAPCD1, SAPCD1 +1 more (N124D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2534089	NM_001039651.2(SAPCD1):c.379A>G (p.Ser127Gly)	MSH5-SAPCD1, SAPCD1 +1 more (S127G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3157794	NM_001039651.2(SAPCD1):c.397G>A (p.Asp133Asn)	MSH5-SAPCD1, SAPCD1 +1 more (D133N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2301141	NM_001039651.2(SAPCD1):c.488T>C (p.Met163Thr)	MSH5-SAPCD1, SAPCD1 +1 more (M163T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3157795	NM_001039651.2(SAPCD1):c.496C>T (p.Arg166Trp)	MSH5-SAPCD1, SAPCD1 +1 more (R166W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3157796	NM_001039651.2(SAPCD1):c.512G>T (p.Gly171Val)	MSH5-SAPCD1, SAPCD1 +1 more (G171V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2459562	NM_001039651.2(SAPCD1):c.529C>T (p.Arg177Cys)	MSH5-SAPCD1, SAPCD1 +1 more (R177C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance