"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "UMODL1"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652695	NM_001004416.3(UMODL1):c.255C>T (p.Pro85=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652696	NM_001004416.3(UMODL1):c.420T>A (p.Pro140=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025392	NM_001004416.3(UMODL1):c.424C>T (p.Leu142Phe)	UMODL1 (L142F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652697	NM_001004416.3(UMODL1):c.846C>T (p.Cys282=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652698	NM_001004416.3(UMODL1):c.907C>A (p.Arg303=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652699	NM_001004416.3(UMODL1):c.1653T>G (p.Cys551Trp)	UMODL1 (C479W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652700	NM_001004416.3(UMODL1):c.2115C>T (p.Ser705=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652701	NM_001004416.3(UMODL1):c.2368C>T (p.Arg790Trp)	UMODL1 (R718W +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2652702	NM_001004416.3(UMODL1):c.2517C>T (p.Asp839=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652703	NM_001004416.3(UMODL1):c.3537T>G (p.Pro1179=)	UMODL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652704	NM_001004416.3(UMODL1):c.3934A>G (p.Ser1312Gly)	UMODL1 (S1240G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance