"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "RETREG1"[g - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1335578	NM_001034850.3(RETREG1):c.1340C>T (p.Thr447Ile)	RETREG1 (T306I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 352686	NM_001034850.3(RETREG1):c.1089T>C (p.Asp363=)	RETREG1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 245600	NM_001034850.3(RETREG1):c.607G>A (p.Val203Met)	RETREG1 (V203M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 377837	NM_001034850.3(RETREG1):c.379C>T (p.Arg127Cys)	RETREG1 (R127C)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +4 more	GBenign/Likely benign
Select item 1388588	NM_001034850.3(RETREG1):c.340T>A (p.Trp114Arg)	RETREG1 (W114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 906951	NM_001034850.3(RETREG1):c.264C>T (p.Ser88=)	RETREG1, RETREG1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 538136	NM_001034850.3(RETREG1):c.207C>G (p.Thr69=)	LOC129993734, RETREG1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 538125	NM_001034850.3(RETREG1):c.17C>T (p.Pro6Leu)	LOC129993734, RETREG1 +1 more (P6L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2B +2 more	GUncertain significance