ClinVar for MedGen (Select 384026) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441526	NM_017791.3(FLVCR2):c.908G>A (p.Arg303Gln)	FLVCR2 (R303Q +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 1706441	NM_017791.3(FLVCR2):c.1276G>A (p.Ala426Thr)	FLVCR2 (A221T +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 1252031	NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser)	FLVCR2 (G235S +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GUncertain significance
Select item 1032766	NM_017791.3(FLVCR2):c.1019C>T (p.Pro340Leu)	FLVCR2 (P135L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 667372	NM_017791.3(FLVCR2):c.391dup (p.Met131fs)	FLVCR2, FLVCR2-AS1 (M131fs)	Duplication (non-coding transcript variant +1 more)	Fowler syndrome	GLikely pathogenic
Select item 523100	NM_017791.3(FLVCR2):c.1289C>T (p.Thr430Met)	FLVCR2 (T430M +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GPathogenic
Select item 314433	NM_017791.3(FLVCR2):c.*1413GT[9]	FLVCR2	Microsatellite (3 prime UTR variant)	Fowler syndrome	GUncertain significance
Select item 314432	NM_017791.3(FLVCR2):c.1411_1412del	FLVCR2	Deletion (3 prime UTR variant)	Fowler syndrome	GUncertain significance
Select item 314430	NM_017791.3(FLVCR2):c.*1085T>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Fowler syndrome	GUncertain significance
Select item 314427	NM_017791.3(FLVCR2):c.*734del	FLVCR2	Deletion (3 prime UTR variant)	Fowler syndrome	GUncertain significance
Select item 314404	NM_017791.3(FLVCR2):c.-121CT[1]	FLVCR2, FLVCR2-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 314403	NM_017791.2(FLVCR2):c.-356G>C	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign
Select item 95820	NM_017791.3(FLVCR2):c.648C>G (p.Ser216=)	FLVCR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 95819	NM_017791.3(FLVCR2):c.543G>A (p.Val181=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign
Select item 95818	NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala)	FLVCR2, FLVCR2-AS1 (V16A)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +3 more	GBenign
Select item 30856	NM_017791.3(FLVCR2):c.402C>G (p.Tyr134Ter)	FLVCR2, FLVCR2-AS1 (Y134*)	Single nucleotide variant (nonsense +1 more)	Fowler syndrome	GPathogenic
Select item 1093	NM_017791.3(FLVCR2):c.1341+2T>C	FLVCR2	Single nucleotide variant (splice donor variant)	Fowler syndrome	GPathogenic
Select item 1092	NM_017791.3(FLVCR2):c.977C>T (p.Ala326Val)	FLVCR2 (A326V +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GPathogenic
Select item 1091	NM_017791.3(FLVCR2):c.839C>G (p.Pro280Arg)	FLVCR2 (P280R +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1090	NM_017791.3(FLVCR2):c.473C>A (p.Ser158Ter)	FLVCR2, FLVCR2-AS1 (S158*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fowler syndrome	GPathogenic
Select item 1089	NM_017791.3(FLVCR2):c.1192C>G (p.Leu398Val)	FLVCR2 (L398V +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GPathogenic
Select item 1088	NM_017791.3(FLVCR2):c.329_334del (p.Asn110_Phe112delinsIle)	FLVCR2, FLVCR2-AS1	Deletion (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1087	NM_017791.3(FLVCR2):c.1289C>G (p.Thr430Arg)	FLVCR2 (T430R +1 more)	Single nucleotide variant (missense variant)	Fowler syndrome	GPathogenic

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Items: 23