Related gene-specific medical variations for Gene (Select 118881) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3147944	NM_144589.4(COMTD1):c.386G>T (p.Arg129Leu)	COMTD1, LOC130004134 (R129L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147943	NM_144589.4(COMTD1):c.386G>C (p.Arg129Pro)	COMTD1, LOC130004134 (R129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147942	NM_144589.4(COMTD1):c.337A>G (p.Thr113Ala)	COMTD1, LOC130004134 (T113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3147941	NM_144589.4(COMTD1):c.272C>G (p.Ala91Gly)	COMTD1, LOC130004134 (A91G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614052	NM_144589.4(COMTD1):c.670A>C (p.Lys224Gln)	COMTD1, LOC130004132 (K224Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536942	NM_144589.4(COMTD1):c.556G>A (p.Ala186Thr)	COMTD1, LOC130004133 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475999	NM_144589.4(COMTD1):c.377C>T (p.Ala126Val)	COMTD1, LOC130004134 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375623	NM_144589.4(COMTD1):c.326T>C (p.Leu109Pro)	COMTD1, LOC130004134 (L109P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374740	NM_144589.4(COMTD1):c.371T>A (p.Leu124Gln)	COMTD1, LOC130004134 (L124Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315254	NM_144589.4(COMTD1):c.10C>A (p.Pro4Thr)	COMTD1, LOC124416844 (P4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance