Related gene-specific medical variations for Gene (Select 5980) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3353621	NM_001372078.1(REV3L):c.58C>T (p.Leu20=)	LOC129996991, REV3L	Single nucleotide variant (5 prime UTR variant +1 more)	REV3L-related disorder	GLikely benign
Select item 3246165	NC_000006.11:g.(?_111640856)_(111644166_?)del	REV3L	Deletion	not provided	GPathogenic
Select item 3038531	NM_001372078.1(REV3L):c.-4G>A	LOC129996991, REV3L	Single nucleotide variant (5 prime UTR variant)	REV3L-related disorder	GLikely benign
Select item 2689865	NM_001372078.1(REV3L):c.97A>T (p.Lys33Ter)	REV3L (K33*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2672104	NM_001372078.1(REV3L):c.4750C>T (p.Arg1584Ter)	REV3L (R1506* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2283377	NM_001372078.1(REV3L):c.43A>C (p.Ser15Arg)	LOC129996991, REV3L (S15R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686291	NM_001372078.1(REV3L):c.35A>G (p.Tyr12Cys)	LOC129996991, REV3L (Y12C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 797439	NM_001372078.1(REV3L):c.36C>T (p.Tyr12=)	LOC129996991, REV3L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 395150	GRCh37/hg19 6q21(chr6:111714078-111794152)x1	REV3L	Copy number loss	See cases	GUncertain significance
Select item 221624	NM_001372078.1(REV3L):c.559A>T (p.Arg187Trp)	REV3L (R187W +1 more)	Single nucleotide variant (missense variant)	Carcinoma of colon	GLikely pathogenic