"Ambry Genetics"[submitter] AND "SMDT1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612134	NM_033318.5(SMDT1):c.17C>T (p.Ala6Val)	SMDT1 (A6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257789	NM_033318.5(SMDT1):c.38C>T (p.Pro13Leu)	SMDT1 (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166464	NM_033318.5(SMDT1):c.52G>T (p.Ala18Ser)	SMDT1 (A18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483141	NM_033318.5(SMDT1):c.52G>C (p.Ala18Pro)	SMDT1 (A18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166465	NM_033318.5(SMDT1):c.67C>T (p.Pro23Ser)	SMDT1 (P23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166466	NM_033318.5(SMDT1):c.70A>G (p.Ser24Gly)	SMDT1 (S24G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379839	NM_033318.5(SMDT1):c.105G>T (p.Trp35Cys)	SMDT1 (W35C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319698	NM_033318.5(SMDT1):c.112T>C (p.Ser38Pro)	SMDT1 (S38P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166461	NM_033318.5(SMDT1):c.145A>C (p.Ile49Leu)	SMDT1 (I49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166463	NM_033318.5(SMDT1):c.199C>A (p.Leu67Ile)	SMDT1 (L67I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance