Related gene-specific medical variations for Gene (Select 89766) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186409	NM_001004416.3(UMODL1):c.1499G>T (p.Arg500Leu)	UMODL1, UMODL1-AS1 (R500L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601554	NM_001004416.3(UMODL1):c.1270C>G (p.Gln424Glu)	UMODL1, UMODL1-AS1 (Q424E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2601343	NM_001004416.3(UMODL1):c.1252C>T (p.Arg418Cys)	UMODL1, UMODL1-AS1 (R346C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531610	NM_001004416.3(UMODL1):c.1275C>G (p.Asp425Glu)	UMODL1, UMODL1-AS1 (D353E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298115	NM_001004416.3(UMODL1):c.1423G>A (p.Gly475Arg)	UMODL1, UMODL1-AS1 (G403R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272802	NM_001004416.3(UMODL1):c.1261G>T (p.Val421Leu)	UMODL1, UMODL1-AS1 (V349L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2268148	NM_001004416.3(UMODL1):c.1364T>C (p.Ile455Thr)	UMODL1, UMODL1-AS1 (I383T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233018	NM_001004416.3(UMODL1):c.1296C>A (p.His432Gln)	UMODL1, UMODL1-AS1 (H432Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1690317	NM_001004416.3(UMODL1):c.3905A>G (p.Tyr1302Cys)	UMODL1 (Y1230C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742264	NM_001004416.3(UMODL1):c.1365C>T (p.Ile455=)	UMODL1, UMODL1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign