ClinVar for MedGen (Select 324636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024110	NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)	FLVCR1 (W125*)	Single nucleotide variant (nonsense)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely pathogenic
Select item 1709655	NM_014053.4(FLVCR1):c.673G>A (p.Ala225Thr)	FLVCR1 (A225T)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1709617	NM_014053.4(FLVCR1):c.641A>G (p.Gln214Arg)	FLVCR1 (Q214R)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1522556	NM_014053.4(FLVCR1):c.1381A>T (p.Thr461Ser)	FLVCR1 (T461S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1084368	NM_014053.4(FLVCR1):c.1525+12C>T	FLVCR1	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GLikely benign
Select item 1033256	NM_014053.4(FLVCR1):c.236C>T (p.Ala79Val)	FLVCR1, LOC129932486 (A79V)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 1031236	NM_014053.4(FLVCR1):c.1516A>T (p.Ile506Leu)	FLVCR1 (I506L)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887631	NM_017791.3(FLVCR2):c.*1672G>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887630	NM_017791.3(FLVCR2):c.*1613C>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887629	NM_017791.3(FLVCR2):c.*1517T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely benign
Select item 887569	NM_017791.3(FLVCR2):c.1278T>C (p.Ala426=)	FLVCR2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 887568	NM_017791.3(FLVCR2):c.953-14G>A	FLVCR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 887447	NM_017791.3(FLVCR2):c.*1322G>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887446	NM_017791.3(FLVCR2):c.*1319C>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely benign
Select item 887445	NM_017791.3(FLVCR2):c.*1071G>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887444	NM_017791.3(FLVCR2):c.*1070T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887443	NM_017791.3(FLVCR2):c.*1003G>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 887442	NM_017791.3(FLVCR2):c.*991T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 887373	NM_017791.3(FLVCR2):c.766A>G (p.Ile256Val)	FLVCR2 (I256V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 887372	NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp)	FLVCR2 (R243W +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GLikely benign
Select item 887371	NM_017791.3(FLVCR2):c.669+8G>C	FLVCR2	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 886379	NM_017791.3(FLVCR2):c.360C>G (p.Ala120=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 886378	NM_017791.3(FLVCR2):c.277T>C (p.Cys93Arg)	FLVCR2, FLVCR2-AS1 (C93R)	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 885351	NM_017791.3(FLVCR2):c.*952T>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 885350	NM_017791.3(FLVCR2):c.*910C>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 885349	NM_017791.3(FLVCR2):c.*893T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 885348	NM_017791.3(FLVCR2):c.*856T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 885347	NM_017791.3(FLVCR2):c.*675A>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 885346	NM_017791.3(FLVCR2):c.*644G>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 884418	NM_017791.3(FLVCR2):c.*513A>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 884417	NM_017791.3(FLVCR2):c.*510A>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 884416	NM_017791.3(FLVCR2):c.*254T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 884354	NM_017791.3(FLVCR2):c.69G>A (p.Ala23=)	FLVCR2, FLVCR2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876909	NM_014053.4(FLVCR1):c.*3756C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876860	NM_014053.4(FLVCR1):c.*2409C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876800	NM_014053.4(FLVCR1):c.*1021A>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876763	NM_014053.4(FLVCR1):c.*123T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876762	NM_014053.4(FLVCR1):c.*114C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876761	NM_014053.4(FLVCR1):c.1525+13G>A	FLVCR1	Single nucleotide variant (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GConflicting classifications of pathogenicity
Select item 876709	NM_014053.4(FLVCR1):c.-104G>A	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876708	NM_014053.4(FLVCR1):c.-154G>T	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876707	NM_014053.4(FLVCR1):c.-166G>C	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 876706	NM_014053.4(FLVCR1):c.-168C>G	FLVCR1	Single nucleotide variant (5 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875914	NM_014053.4(FLVCR1):c.*3337G>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875863	NM_014053.4(FLVCR1):c.*1954A>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875862	NM_014053.4(FLVCR1):c.*1920T>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 875811	NM_014053.4(FLVCR1):c.*847T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875810	NM_014053.4(FLVCR1):c.*785C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875809	NM_014053.4(FLVCR1):c.*740T>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 875761	NM_014053.4(FLVCR1):c.1394T>G (p.Leu465Arg)	FLVCR1 (L465R)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874989	NM_014053.4(FLVCR1):c.*3032G>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 874988	NM_014053.4(FLVCR1):c.*2954T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874987	NM_014053.4(FLVCR1):c.*2860C>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely benign
Select item 874930	NM_014053.4(FLVCR1):c.*1738G>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874929	NM_014053.4(FLVCR1):c.*1549A>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874876	NM_014053.4(FLVCR1):c.*665C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874875	NM_014053.4(FLVCR1):c.*500G>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 874874	NM_014053.4(FLVCR1):c.*422G>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874832	NM_014053.4(FLVCR1):c.886T>G (p.Phe296Val)	FLVCR1 (F296V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 874831	NM_014053.4(FLVCR1):c.835T>A (p.Tyr279Asn)	FLVCR1 (Y279N)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874830	NM_014053.4(FLVCR1):c.832T>C (p.Phe278Leu)	FLVCR1 (F278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 874829	NM_014053.4(FLVCR1):c.779T>C (p.Val260Ala)	FLVCR1 (V260A)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874062	NM_014053.4(FLVCR1):c.*2704T>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874061	NM_014053.4(FLVCR1):c.*2591G>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 874060	NM_014053.4(FLVCR1):c.*2540T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 874059	NM_014053.4(FLVCR1):c.*2495C>T	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873995	NM_014053.4(FLVCR1):c.*1548T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873994	NM_014053.4(FLVCR1):c.*1543C>G	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873993	NM_014053.4(FLVCR1):c.*1454G>A	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873992	NM_014053.4(FLVCR1):c.*1246T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873929	NM_014053.4(FLVCR1):c.*326T>C	FLVCR1	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873878	NM_014053.4(FLVCR1):c.270C>A (p.Thr90=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873877	NM_014053.4(FLVCR1):c.241C>T (p.Leu81=)	FLVCR1, LOC129932486	Single nucleotide variant (synonymous variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 873876	NM_014053.4(FLVCR1):c.82G>A (p.Gly28Ser)	FLVCR1, LOC129932486 (G28S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 873493	NM_014053.4(FLVCR1):c.1019C>T (p.Thr340Ile)	FLVCR1 (T340I)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GUncertain significance
Select item 872563	NM_014053.4(FLVCR1):c.755del (p.Gly252fs)	FLVCR1 (G252fs)	Deletion (frameshift variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GPathogenic/Likely pathogenic
Select item 866250	NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=)	FLVCR1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 806345	NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala)	FLVCR1 (G412A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 801607	NM_014053.4(FLVCR1):c.1413+82TTG[6]	FLVCR1	Microsatellite (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 774491	NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser)	FLVCR2 (P279S +1 more)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GBenign/Likely benign
Select item 631716	NM_017791.3(FLVCR2):c.1581A>C (p.Ter527Cys)	FLVCR2	Single nucleotide variant (stop lost)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 631715	NM_017791.3(FLVCR2):c.1580G>T (p.Ter527Leu)	FLVCR2	Single nucleotide variant (stop lost)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 631714	NM_017791.3(FLVCR2):c.1157_1158del (p.Leu386fs)	FLVCR2 (L181fs +1 more)	Deletion (frameshift variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 522301	NM_014053.4(FLVCR1):c.1594-13_1594-10dup	FLVCR1	Duplication (intron variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign
Select item 521372	NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)	FLVCR1 (M1T)	Single nucleotide variant (missense variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GPathogenic/Likely pathogenic
Select item 518312	NM_014053.4(FLVCR1):c.1307+19T>A	FLVCR1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 488940	NM_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)	FLVCR1 (R516*)	Single nucleotide variant (nonsense)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GConflicting classifications of pathogenicity
Select item 450159	NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)	FLVCR1 (I386M)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GUncertain significance
Select item 447352	NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn)	FLVCR1 (D313N)	Single nucleotide variant (missense variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GBenign/Likely benign
Select item 374768	NM_014053.4(FLVCR1):c.1092+5G>A	FLVCR1	Single nucleotide variant (intron variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 368865	NM_014053.3(FLVCR1):c.4085_4086delTT	FLVCR1	Deletion	Posterior column ataxia-retinitis pigmentosa syndrome	GLikely benign
Select item 314435	NM_017791.3(FLVCR2):c.*1633A>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314434	NM_017791.3(FLVCR2):c.*1588A>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314431	NM_017791.3(FLVCR2):c.*1098C>A	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 314429	NM_017791.3(FLVCR2):c.*1040C>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 314428	NM_017791.3(FLVCR2):c.*756A>G	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GUncertain significance
Select item 314426	NM_017791.3(FLVCR2):c.*573C>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GBenign
Select item 314425	NM_017791.3(FLVCR2):c.*517C>T	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314424	NM_017791.3(FLVCR2):c.*379T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome	GUncertain significance
Select item 314423	NM_017791.3(FLVCR2):c.*187T>C	FLVCR2	Single nucleotide variant (3 prime UTR variant)	Posterior column ataxia-retinitis pigmentosa syndrome +1 more	GLikely benign

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