Related gene-specific medical variations for Gene (Select 4580) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296813	NM_002455.5(MTX1):c.60G>T (p.Trp20Cys)	MTX1, THBS3 (W20C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218732	NM_002455.5(MTX1):c.428C>T (p.Pro143Leu)	LOC129931558, MTX1 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218721	NM_002455.5(MTX1):c.344G>A (p.Gly115Asp)	LOC129931558, MTX1 +1 more (G115D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218717	NM_002455.5(MTX1):c.326C>T (p.Ser109Phe)	LOC129931558, MTX1 +1 more (S109F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218714	NM_002455.5(MTX1):c.302G>A (p.Ser101Asn)	LOC129931558, MTX1 +1 more (S101N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218706	NM_002455.5(MTX1):c.212C>G (p.Ala71Gly)	MTX1, THBS3 (A71G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218696	NM_002455.5(MTX1):c.113G>T (p.Arg38Leu)	MTX1, THBS3 (R38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541254	NM_002455.5(MTX1):c.158G>A (p.Arg53Gln)	MTX1, THBS3 (R53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483170	NM_002455.5(MTX1):c.253C>T (p.Pro85Ser)	LOC129931558, MTX1 +1 more (P85S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391376	NM_002455.5(MTX1):c.355G>A (p.Ala119Thr)	LOC129931558, MTX1 +1 more (A119T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345022	NM_002455.5(MTX1):c.328C>A (p.Pro110Thr)	LOC129931558, MTX1 +1 more (P110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331727	NM_002455.5(MTX1):c.287G>A (p.Arg96His)	LOC129931558, MTX1 +1 more (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326783	NM_002455.5(MTX1):c.359C>G (p.Thr120Arg)	LOC129931558, MTX1 +1 more (T120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207998	NM_002455.5(MTX1):c.350T>C (p.Leu117Pro)	LOC129931558, MTX1 +1 more (L117P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767706	NM_002455.5(MTX1):c.187T>A (p.Ser63Thr)	MTX1, THBS3 (S63T)	Single nucleotide variant (missense variant)	not provided	GBenign