ClinVar for MedGen (Select 393334) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 136

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2504415	NM_004750.5(CRLF1):c.397+1G>A	CRLF1	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2500900	NM_006017.3(PROM1):c.2118del (p.Asn707fs)	PROM1 (N698fs +1 more)	Deletion (frameshift variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 1709261	NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter)	PROM1 (Y625* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 12	GPathogenic
Select item 1495448	NM_006017.3(PROM1):c.1450A>G (p.Met484Val)	PROM1 (M484V +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 1288875	NM_006017.3(PROM1):c.2582+43C>T	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +4 more	GBenign
Select item 1261435	NM_006017.3(PROM1):c.1003-35A>C	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 12 +4 more	GBenign
Select item 1048165	NM_006017.3(PROM1):c.380G>A (p.Gly127Glu)	PROM1 (G118E +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 1048148	NM_006017.3(PROM1):c.2476G>C (p.Asp826His)	PROM1 (D817H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 1028999	NM_006017.3(PROM1):c.449A>G (p.Asn150Ser)	PROM1 (N141S +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GUncertain significance
Select item 931849	NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	PROM1 (H847R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12	GUncertain significance
Select item 931502	NM_006017.3(PROM1):c.11T>C (p.Val4Ala)	PROM1 (V4A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely benign
Select item 903654	NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)	PROM1 (R390C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 903034	NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	PROM1 (D820N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 902975	NM_006017.3(PROM1):c.*198T>C	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902864	NM_006017.3(PROM1):c.*1143A>C	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902806	NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)	PROM1 (Y84N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902565	NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)	PROM1 (R675G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 902154	NM_006017.3(PROM1):c.2489+8T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 902098	NM_006017.3(PROM1):c.*580T>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901959	NM_006017.3(PROM1):c.*1149A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901585	NM_006017.3(PROM1):c.1579-12A>C	PROM1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 901516	NM_006017.3(PROM1):c.*640T>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901462	NM_006017.3(PROM1):c.*985C>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901350	NM_006017.3(PROM1):c.376G>A (p.Val126Met)	PROM1 (V117M +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 901286	NM_006017.3(PROM1):c.706G>A (p.Val236Met)	PROM1 (V227M +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 901091	NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)	PROM1 (Y454H +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 901090	NM_006017.3(PROM1):c.1407G>A (p.Pro469=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 900895	NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)	PROM1 (S689R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +4 more	GConflicting classifications of pathogenicity
Select item 900422	NM_006017.3(PROM1):c.2582+9A>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 900421	NM_006017.3(PROM1):c.*107G>T	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 900420	NM_006017.3(PROM1):c.*189A>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 900369	NM_006017.3(PROM1):c.*681C>G	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 900368	NM_006017.3(PROM1):c.*781G>A	PROM1	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 900247	NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)	PROM1 (G53D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 900186	NM_006017.3(PROM1):c.380G>T (p.Gly127Val)	PROM1 (G127V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 899994	NM_006017.3(PROM1):c.1301+10T>A	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 12 +3 more	GConflicting classifications of pathogenicity
Select item 899993	NM_006017.3(PROM1):c.1301+11C>A	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 12 +3 more	GConflicting classifications of pathogenicity
Select item 899918	NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)	PROM1 (S481C +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 899857	NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 899856	NM_006017.3(PROM1):c.1738A>C (p.Asn580His)	PROM1 (N571H +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 899417	NM_006017.3(PROM1):c.2397A>G (p.Gly799=)	PROM1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 12 +3 more	GUncertain significance
Select item 866234	NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	PROM1 (A816P +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +5 more	GUncertain significance
Select item 866133	NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	PROM1 (D767V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 864624	NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)	PROM1 (N337D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 842166	NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)	PROM1 (R375S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 836421	NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	PROM1 (Y214* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 12 +3 more	GPathogenic
Select item 809628	NM_006017.3(PROM1):c.677C>T (p.Ala226Val)	PROM1 (A226V +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 809626	NM_006017.3(PROM1):c.1142-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 802057	NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	PROM1 (Q209* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 41 +2 more	GPathogenic/Likely pathogenic
Select item 787025	NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	PROM1 (H584R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +5 more	GConflicting classifications of pathogenicity
Select item 757831	NM_006017.3(PROM1):c.1279T>C (p.Leu427=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 717840	NM_006017.3(PROM1):c.714A>G (p.Gly238=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 684463	NM_006017.3(PROM1):c.2112C>T (p.Arg704=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 636187	NM_006017.3(PROM1):c.1911+8G>A	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 636063	NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	PROM1 (R821* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 12 +1 more	GPathogenic/Likely pathogenic
Select item 623211	NM_006017.3(PROM1):c.1301+2T>C	PROM1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 560486	NM_006017.3(PROM1):c.262dup (p.Ile88fs)	PROM1 (I88fs)	Duplication (frameshift variant)	Cone-rod dystrophy 12	GPathogenic
Select item 438215	NM_006017.3(PROM1):c.730C>T (p.Arg244Ter)	PROM1 (R244* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 12 +1 more	GPathogenic
Select item 438212	NM_006017.3(PROM1):c.1002+5G>A	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +3 more	GUncertain significance
Select item 425331	NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	PROM1 (S649L +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 41 +5 more	GConflicting classifications of pathogenicity
Select item 391392	NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)	PROM1 (L400P +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 41 +4 more	GPathogenic/Likely pathogenic
Select item 348016	NM_006017.3(PROM1):c.-168G>A	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 348015	NM_006017.3(PROM1):c.-148G>A	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 348014	NM_006017.3(PROM1):c.-127A>G	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 348012	NM_006017.3(PROM1):c.-25T>A	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 348011	NM_006017.3(PROM1):c.105A>G (p.Glu35=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 348010	NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)	PROM1 (I52T)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +4 more	GUncertain significance
Select item 348009	NM_006017.3(PROM1):c.181A>G (p.Ile61Val)	PROM1 (I61V)	Single nucleotide variant (missense variant)	Stargardt disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 348008	NM_006017.3(PROM1):c.276+15G>T	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 348007	NM_006017.3(PROM1):c.277-15C>T	PROM1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 348006	NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)	PROM1 (R186W +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 348005	NM_006017.3(PROM1):c.631-14T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 348004	NM_006017.3(PROM1):c.678G>A (p.Ala226=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal macular dystrophy type 2 +5 more	GConflicting classifications of pathogenicity
Select item 348003	NM_006017.3(PROM1):c.717C>T (p.Gly239=)	PROM1	Single nucleotide variant (synonymous variant)	Stargardt disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 348002	NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)	PROM1 (G240R +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +4 more	GUncertain significance
Select item 348001	NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)	PROM1 (R244Q +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +5 more	GConflicting classifications of pathogenicity
Select item 347999	NM_006017.3(PROM1):c.792G>A (p.Lys264=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347998	NM_006017.3(PROM1):c.843C>T (p.His281=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347997	NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	PROM1 (L321F +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +6 more	GConflicting classifications of pathogenicity
Select item 347996	NM_006017.3(PROM1):c.1218C>G (p.Leu406=)	PROM1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 12 +4 more	GConflicting classifications of pathogenicity
Select item 347995	NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)	PROM1 (L424S +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347994	NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)	PROM1 (L427M +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +4 more	GUncertain significance
Select item 347993	NM_006017.3(PROM1):c.1344C>T (p.Ile448=)	PROM1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 12 +6 more	GConflicting classifications of pathogenicity
Select item 347992	NM_006017.3(PROM1):c.1377C>T (p.Gly459=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347991	NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)	PROM1 (L497F +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GConflicting classifications of pathogenicity
Select item 347990	NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)	PROM1 (R526W +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 347989	NM_006017.3(PROM1):c.1578+9G>C	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 12 +4 more	GConflicting classifications of pathogenicity
Select item 347988	NM_006017.3(PROM1):c.1579-6T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 347987	NM_006017.3(PROM1):c.1683-3C>T	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +4 more	GConflicting classifications of pathogenicity
Select item 347986	NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)	PROM1 (L573F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 347985	NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)	PROM1 (C624Y +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347984	NM_006017.3(PROM1):c.1911+14G>A	PROM1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347983	NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)	PROM1 (Y652D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 347982	NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)	PROM1 (L661S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 347981	NM_006017.3(PROM1):c.2211+7C>T	PROM1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347980	NM_006017.3(PROM1):c.2281-5C>G	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GUncertain significance
Select item 347979	NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)	PROM1 (S762G +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 347978	NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	PROM1 (P770H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +5 more	GConflicting classifications of pathogenicity
Select item 347977	NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2