"Ambry Genetics"[submitter] AND "LOC126806995"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125068	NM_025205.5(MED28):c.5C>A (p.Ala2Glu)	LOC126806995, MED28 (A2E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125059	NM_025205.5(MED28):c.17G>T (p.Gly6Val)	LOC126806995, MED28 (G6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356665	NM_025205.5(MED28):c.17G>C (p.Gly6Ala)	LOC126806995, MED28 (G6A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264980	NM_025205.5(MED28):c.19G>T (p.Gly7Cys)	LOC126806995, MED28 (G7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125064	NM_025205.5(MED28):c.32G>A (p.Gly11Glu)	LOC126806995, MED28 (G11E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125067	NM_025205.5(MED28):c.49C>T (p.Pro17Ser)	LOC126806995, MED28 (P17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306164	NM_025205.5(MED28):c.50C>T (p.Pro17Leu)	LOC126806995, MED28 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347219	NM_025205.5(MED28):c.62C>G (p.Pro21Arg)	LOC126806995, MED28 (P21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125069	NM_025205.5(MED28):c.71C>G (p.Pro24Arg)	LOC126806995, MED28 (P24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125058	NM_025205.5(MED28):c.137A>G (p.Asp46Gly)	LOC126806995, MED28 (D46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance