Related gene-specific medical variations for Gene (Select 8804) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269477	NM_003851.3(CREG1):c.256G>C (p.Ala86Pro)	CREG1, LOC129931856 (A86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077377	NM_003851.3(CREG1):c.77T>C (p.Val26Ala)	CREG1, LOC129931856 (V26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077374	NM_003851.3(CREG1):c.257C>T (p.Ala86Val)	CREG1, LOC129931856 (A86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077373	NM_003851.3(CREG1):c.241C>A (p.Arg81Ser)	CREG1, LOC129931856 (R81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077372	NM_003851.3(CREG1):c.111C>A (p.His37Gln)	CREG1, LOC129931856 (H37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060330	NM_003851.3(CREG1):c.132C>T (p.Ser44=)	CREG1, LOC129931856	Single nucleotide variant (synonymous variant)	CREG1-related disorder	GLikely benign
Select item 3050509	NM_003851.3(CREG1):c.255C>T (p.Phe85=)	CREG1, LOC129931856	Single nucleotide variant (synonymous variant)	CREG1-related disorder	GLikely benign
Select item 2621422	NM_003851.3(CREG1):c.131C>T (p.Ser44Phe)	CREG1, LOC129931856 (S44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375624	NM_003851.3(CREG1):c.89G>A (p.Arg30Gln)	CREG1, LOC129931856 (R30Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336040	NM_003851.3(CREG1):c.16C>T (p.Arg6Cys)	CREG1, LOC129931856 (R6C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331965	NM_003851.3(CREG1):c.32C>T (p.Ala11Val)	CREG1, LOC129931856 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314658	NM_003851.3(CREG1):c.43G>A (p.Ala15Thr)	CREG1, LOC129931856 (A15T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225923	NM_003851.3(CREG1):c.140C>T (p.Pro47Leu)	CREG1, LOC129931856 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance