ClinVar for MedGen (Select 67395) - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576560	NM_000350.3(ABCA4):c.4353-8T>G	ABCA4	Single nucleotide variant (intron variant)	Retinitis pigmentosa 1	GUncertain significance
Select item 2500819	NM_006269.2(RP1):c.6_7del (p.Ser2fs)	RP1 (S2fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 2500818	NM_006269.2(RP1):c.4941dup (p.Pro1648fs)	LOC126860392, RP1 (P1648fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 2435464	NM_006269.2(RP1):c.871G>T (p.Asp291Tyr)	RP1 (D291Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1	GUncertain significance
Select item 2429744	NM_006269.2(RP1):c.2103_2104del (p.Arg701fs)	RP1 (R701fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic
Select item 1803210	NM_006269.2(RP1):c.32T>A (p.Ile11Asn)	RP1 (I11N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1	GUncertain significance
Select item 1709178	NM_006269.2(RP1):c.461G>A (p.Arg154Gln)	RP1 (R154Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1	GUncertain significance
Select item 1708390	NM_006269.2(RP1):c.2001del (p.Val668fs)	RP1 (V668fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic
Select item 1686129	NM_001375654.1(RP1):c.2212-1G>A	RP1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 1	GPathogenic
Select item 1678577	NM_006269.2(RP1):c.2092_2093delinsTCTT (p.Lys698fs)	RP1 (K698fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1444098	NM_006269.2(RP1):c.5002A>G (p.Arg1668Gly)	LOC126860392, RP1 (R1668G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 1429881	NM_006269.2(RP1):c.1516A>G (p.Ser506Gly)	RP1 (S506G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 1333517	NM_006269.2(RP1):c.2015dup (p.Lys673fs)	RP1 (K673fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 1325010	NM_006269.2(RP1):c.5248G>T (p.Glu1750Ter)	LOC126860392, RP1 (E1750*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1323531	NM_006269.2(RP1):c.257dup (p.Arg87fs)	RP1 (R87fs)	Duplication (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 1315572	NM_006269.2(RP1):c.4636C>T (p.Gln1546Ter)	RP1 (Q1546*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1213904	NM_006269.2(RP1):c.2166del (p.Gly723fs)	RP1 (G723fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1213903	NM_006269.2(RP1):c.5564del (p.Lys1855fs)	LOC126860392, RP1 (K1855fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1213902	NM_006269.2(RP1):c.2079del (p.Gly694fs)	RP1 (G694fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic
Select item 1213901	NM_006269.2(RP1):c.1994del (p.Leu665fs)	RP1 (L665fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1213900	NM_006269.2(RP1):c.961_963del (p.Lys321del)	RP1 (K321del)	Deletion (inframe_deletion +1 more)	Retinitis pigmentosa 1	GUncertain significance
Select item 1213899	NM_006269.2(RP1):c.1510T>C (p.Ser504Pro)	RP1 (S504P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1213898	NM_006269.2(RP1):c.532C>T (p.Gln178Ter)	RP1 (Q178*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1172726	NM_006269.2(RP1):c.4709del (p.Gly1570fs)	RP1 (G1570fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1102392	NM_006269.2(RP1):c.4665A>G (p.Gly1555=)	RP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1065776	NM_006269.2(RP1):c.4171del (p.Gln1391fs)	RP1 (Q1391fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1065704	NM_006269.2(RP1):c.2515C>T (p.Gln839Ter)	RP1 (Q839*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1065648	NM_006269.2(RP1):c.1126C>T (p.Arg376Ter)	RP1 (R376*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1063263	NM_006269.2(RP1):c.1661G>A (p.Ser554Asn)	RP1 (S554N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1048149	NM_006269.1:c.-12-1431_*286del	RP1	Deletion	Retinitis pigmentosa 1	GLikely pathogenic
Select item 1035595	NM_006269.2(RP1):c.788-2_790del	RP1	Deletion (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 987374	NM_006269.2(RP1):c.3157del (p.Tyr1053fs)	RP1 (Y1053fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 982874	NM_006269.2(RP1):c.5921del (p.Ala1974fs)	LOC126860392, RP1 (A1974fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 979011	NM_006269.2(RP1):c.606C>A (p.Asp202Glu)	RP1 (D202E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 979006	NM_006269.2(RP1):c.3428del (p.Asn1143fs)	RP1 (N1143fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 1	GPathogenic
Select item 968419	NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter)	RP1 (Q1602*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 961860	NM_006269.2(RP1):c.1726G>A (p.Val576Met)	RP1 (V576M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 953818	NM_006269.2(RP1):c.4783C>T (p.Arg1595Trp)	RP1 (R1595W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 935038	NM_006269.2(RP1):c.3340G>C (p.Gly1114Arg)	RP1 (G1114R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 932123	NM_006269.2(RP1):c.4908C>A (p.Tyr1636Ter)	LOC126860392, RP1 (Y1636*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 932080	NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn)	RP1 (S2118N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 871848	NM_006269.2(RP1):c.1012C>T (p.Arg338Ter)	RP1 (R338*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic
Select item 862472	NM_006269.2(RP1):c.668del (p.Gly223fs)	RP1 (G223fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 849071	NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)	RP1 (E490*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 829981	NM_006269.2(RP1):c.6236C>G (p.Ser2079Ter)	RP1 (S2079*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 1	GLikely pathogenic
Select item 813214	NM_006269.2(RP1):c.2108del (p.Asn703fs)	RP1 (N703fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 812014	NM_006269.2(RP1):c.2511A>G (p.Gln837=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 1 +1 more	GLikely benign
Select item 811991	NM_006269.2(RP1):c.3504G>A (p.Lys1168=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 1 +1 more	GLikely benign
Select item 811821	NM_006269.2(RP1):c.3317T>C (p.Val1106Ala)	RP1 (V1106A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 811349	NM_006269.2(RP1):c.510T>G (p.Val170=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 1	GLikely benign
Select item 811348	NM_006269.2(RP1):c.615+19C>T	RP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 1	GLikely benign
Select item 811132	NM_006269.2(RP1):c.1380G>C (p.Lys460Asn)	RP1 (K460N)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 1 +2 more	GConflicting classifications of pathogenicity
Select item 810288	NM_006269.2(RP1):c.2161del (p.Gly723fs)	RP1 (G723fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802404	NM_006269.2(RP1):c.1234dup (p.Met412fs)	RP1 (M412fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 800956	NM_006269.2(RP1):c.3396G>A (p.Trp1132Ter)	RP1 (W1132*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive retinitis pigmentosa +1 more	GPathogenic
Select item 636089	NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter)	RP1 (Y685*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 1	GPathogenic
Select item 632119	NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	ABCA4 (R1705W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 560493	NM_006269.2(RP1):c.368_369dup (p.Pro124fs)	RP1 (P124fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 560492	NM_006269.2(RP1):c.2335del (p.Ser779fs)	RP1 (S779fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 560491	NM_006269.2(RP1):c.1451C>A (p.Ser484Ter)	RP1 (S484*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 522458	NM_006269.2(RP1):c.5105_5109del (p.Asp1702fs)	LOC126860392, RP1 (D1702fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 498306	NM_006269.2(RP1):c.5017del (p.Tyr1673fs)	LOC126860392, RP1 (Y1673fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 437957	NM_006269.2(RP1):c.3843del (p.Pro1282fs)	RP1 (P1282fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437955	NM_006269.2(RP1):c.2613dup (p.Arg872fs)	RP1 (R872fs)	Duplication (frameshift variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 437947	NM_006269.2(RP1):c.1498_1499del (p.Met500fs)	RP1 (M500fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1 +2 more	GPathogenic/Likely pathogenic
Select item 363312	NM_006269.2(RP1):c.6225A>C (p.Arg2075Ser)	RP1 (R2075S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 363309	NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe)	LOC126860392, RP1 (L1901F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +2 more	GBenign/Likely benign
Select item 363303	NM_006269.2(RP1):c.4784G>A (p.Arg1595Gln)	RP1 (R1595Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +2 more	GBenign
Select item 363293	NM_006269.2(RP1):c.3699C>T (p.Ser1233=)	RP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 363288	NM_006269.2(RP1):c.2991T>C (p.Asn997=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 1 +2 more	GBenign
Select item 281509	NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)	RP1 (K1044N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 268180	NM_006269.2(RP1):c.4743dup (p.Cys1582fs)	RP1 (C1582fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 225457	NM_006269.2(RP1):c.4196del (p.Cys1399fs)	RP1 (C1399fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 197275	NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)	RP1 (P1276S)	Single nucleotide variant (missense variant)	RP1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 197270	NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)	RP1 (D2066N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196435	NM_006269.2(RP1):c.616-6T>C	RP1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 167603	NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)	RP1 (A906T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +1 more	GUncertain significance
Select item 167602	NM_006269.2(RP1):c.2615G>A (p.Arg872His)	RP1 (R872H)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 167601	NM_006269.2(RP1):c.228C>T (p.Leu76=)	RP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 143136	NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)	LOC126860392, RP1 (R1933*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 143134	NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	RP1 (R396*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 100579	NM_006269.2(RP1):c.2255C>T (p.Thr752Met)	RP1 (T752M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 95357	NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)	RP1 (C2033Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 95355	NM_006269.2(RP1):c.5175A>G (p.Gln1725=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 95354	NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro)	LOC126860392, RP1 (S1691P)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 95352	NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)	LOC126860392, RP1 (A1670T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 77363	NM_006269.2(RP1):c.4735T>G (p.Leu1579Val)	RP1 (L1579V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 5971	NM_006269.2(RP1):c.1458_1461dup (p.Glu488Ter)	RP1 (E488*)	Duplication (nonsense)	Retinitis pigmentosa 1	GPathogenic
Select item 5970	NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	RP1 (T373I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 5969	NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)	RP1 (N985Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 5968	NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)	RP1 (Q679*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 5967	NM_006269.2(RP1):c.2287_2290del (p.Asn763fs)	RP1 (N763fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 5966	NM_006269.2(RP1):c.2285_2289del (p.Leu762fs)	RP1 (L762fs)	Microsatellite (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 5965	NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)	RP1 (R677*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic

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Items: 94