"Ambry Genetics"[submitter] AND "LOC130059495"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2246895	NM_004483.5(GCSH):c.115C>A (p.Arg39Ser)	GCSH, LOC130059495 (R39S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317888	NM_004483.5(GCSH):c.103G>A (p.Val35Met)	GCSH, LOC130059495 (V35M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099182	NM_004483.5(GCSH):c.97C>G (p.Leu33Val)	GCSH, LOC130059495 (L33V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 647095	NM_004483.5(GCSH):c.89C>T (p.Pro30Leu)	GCSH, LOC130059495 (P30L)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 2332101	NM_004483.5(GCSH):c.82C>T (p.Pro28Ser)	GCSH, LOC130059495 (P28S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3099181	NM_004483.5(GCSH):c.80C>T (p.Pro27Leu)	GCSH, LOC130059495 (P27L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614812	NM_004483.5(GCSH):c.80C>A (p.Pro27Gln)	GCSH, LOC130059495 (P27Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1045554	NM_004483.5(GCSH):c.73C>T (p.Pro25Ser)	GCSH, LOC130059495 (P25S)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GUncertain significance
Select item 2292198	NM_004483.5(GCSH):c.68C>T (p.Ala23Val)	GCSH, LOC130059495 (A23V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263017	NM_004483.5(GCSH):c.37C>G (p.Leu13Val)	GCSH, LOC130059495 (L13V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548184	NM_004483.5(GCSH):c.25G>A (p.Val9Met)	GCSH, LOC130059495 (V9M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285652	NM_004483.5(GCSH):c.16G>A (p.Val6Met)	GCSH, LOC130059495 (V6M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 964311	NM_004483.5(GCSH):c.4G>C (p.Ala2Pro)	GCSH, LOC130059495 (A2P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance