ClinVar for MedGen (Select 244030) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241532	NM_001201543.2(FAM161A):c.423-1G>T	FAM161A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241530	NM_001201543.2(FAM161A):c.105del (p.Pro35_Leu36insTer)	FAM161A, LOC129933843	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241529	NM_001201543.2(FAM161A):c.747_748del (p.Lys250fs)	FAM161A (K250fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241528	NM_001201543.2(FAM161A):c.1583+2T>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241527	NM_001201543.2(FAM161A):c.90C>G (p.Tyr30Ter)	FAM161A, LOC129933843 (Y30*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241526	NM_001201543.2(FAM161A):c.1882del (p.Tyr628fs)	FAM161A (Y572fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241525	NM_001201543.2(FAM161A):c.346del (p.Met116fs)	FAM161A (M116fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 3241524	NM_001201543.2(FAM161A):c.64del (p.Ile22fs)	FAM161A, LOC129933843 (I22fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2998522	NM_001201543.2(FAM161A):c.1138C>T (p.Arg380Ter)	FAM161A (R380*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2675398	NM_001201543.2(FAM161A):c.981del (p.Phe327fs)	FAM161A (F327fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675397	NM_001201543.2(FAM161A):c.356del (p.Asp119fs)	FAM161A (D119fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675396	NM_001201543.2(FAM161A):c.142del (p.Asp48fs)	FAM161A, LOC129933843 (D48fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675395	NM_001201543.2(FAM161A):c.695G>A (p.Trp232Ter)	FAM161A (W232*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675394	NM_001201543.2(FAM161A):c.421del (p.Arg141fs)	FAM161A (R141fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675393	NM_001201543.2(FAM161A):c.1403_1407del (p.Lys468fs)	FAM161A (K468fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675392	NM_001201543.2(FAM161A):c.688_700dup (p.Pro234fs)	FAM161A (P234fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675391	NM_001201543.2(FAM161A):c.1610T>A (p.Leu537Ter)	FAM161A (L537*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2675390	NM_001201543.2(FAM161A):c.1015G>T (p.Glu339Ter)	FAM161A (E339*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675389	NM_001201543.2(FAM161A):c.1336_1337del (p.Lys446fs)	FAM161A (K446fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675387	NM_001201543.2(FAM161A):c.2006+1G>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675386	NM_001201543.2(FAM161A):c.404del (p.Ser135fs)	FAM161A (S135fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675385	NM_001201543.2(FAM161A):c.556_560del (p.Pro186fs)	FAM161A (P186fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2675384	NM_001201543.2(FAM161A):c.1245dup (p.Val416fs)	FAM161A (V416fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675383	NM_001201543.2(FAM161A):c.1093del (p.Tyr365fs)	FAM161A (Y365fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675382	NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)	FAM161A (C509fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675381	NM_001201543.2(FAM161A):c.1550_1554del (p.Thr517fs)	FAM161A (T517fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675380	NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)	FAM161A (E622* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 2675378	NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)	FAM161A (Q333*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675377	NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)	FAM161A (Y348*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 2675376	NM_001201543.2(FAM161A):c.1057_1058del (p.Asn353fs)	FAM161A (N353fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675375	NM_001201543.2(FAM161A):c.125_128delinsGGG (p.Ala42fs)	FAM161A, LOC129933843 (A42fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675374	NM_001201543.2(FAM161A):c.534del (p.Leu178fs)	FAM161A (L178fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675372	NM_001201543.2(FAM161A):c.287del (p.Phe96fs)	FAM161A (F96fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2675371	NM_001201543.2(FAM161A):c.1109del (p.Asn370fs)	FAM161A (N370fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675370	NM_001201543.2(FAM161A):c.1651A>T (p.Arg551Ter)	FAM161A (R551*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675369	NM_001201543.2(FAM161A):c.1800_1801insTGA (p.Arg601Ter)	FAM161A (R545* +1 more)	Insertion (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675368	NM_001201543.2(FAM161A):c.110_116dup (p.Ala40fs)	FAM161A, LOC129933843 (A40fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2182957	NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)	FAM161A (Q165*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2130565	NM_001201543.2(FAM161A):c.496dup (p.Ser166fs)	FAM161A (S166fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2098171	NM_001201543.2(FAM161A):c.1642C>T (p.Gln548Ter)	FAM161A (Q548*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 2009553	NM_001201543.2(FAM161A):c.449del (p.His150fs)	FAM161A (H150fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1687302	NM_001201543.2(FAM161A):c.1852-2A>T	FAM161A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 28	GPathogenic
Select item 1453028	NM_001201543.2(FAM161A):c.299_300del (p.Glu100fs)	FAM161A (E100fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 1452486	NM_001201543.2(FAM161A):c.1352dup (p.Leu451fs)	FAM161A (L451fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 1443212	NM_001201543.2(FAM161A):c.368del (p.His122_Leu123insTer)	FAM161A	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1415733	NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln)	FAM161A (R335Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1359736	NM_001201543.2(FAM161A):c.1822_1823del (p.Arg608fs)	FAM161A (R552fs +1 more)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 1213998	NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter)	FAM161A (Y365*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GPathogenic
Select item 1184800	NM_001201543.2(FAM161A):c.184-33G>A	FAM161A	Single nucleotide variant (intron variant)	Retinitis pigmentosa 28 +1 more	GBenign
Select item 1170919	NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 1130186	NM_001201543.2(FAM161A):c.246T>C (p.Phe82=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1125961	NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1110269	NM_001201543.2(FAM161A):c.678G>A (p.Arg226=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1094852	NM_001201543.2(FAM161A):c.171C>T (p.Pro57=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1075859	NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)	FAM161A, LOC129933843 (G24*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1068711	NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter)	FAM161A (Q561* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
Select item 1065737	NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter)	FAM161A (S497*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1063204	NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu)	FAM161A (P239L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1057134	NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His)	FAM161A (Q556H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1053797	NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile)	FAM161A (N600I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1052255	NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu)	FAM161A (K259E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1044948	NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu)	FAM161A (G580E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1041762	NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly)	FAM161A (E101G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1037954	NM_001201543.2(FAM161A):c.423-5T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1025064	NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp)	FAM161A (R338W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1019029	NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys)	FAM161A (R487C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014289	NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met)	FAM161A (I467M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014280	NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val)	FAM161A, LOC129933843 (A41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010071	NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly)	FAM161A (A563G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009451	NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val)	FAM161A (I199V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1002116	NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys)	FAM161A (T235K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1000268	NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr)	FAM161A (D371Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991639	NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly)	FAM161A, LOC129933843 (E50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 991638	NM_001201543.2(FAM161A):c.516C>G (p.Ser172=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991637	NM_001201543.2(FAM161A):c.867A>G (p.Ala289=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991636	NM_001201543.2(FAM161A):c.972A>T (p.Pro324=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991635	NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys)	FAM161A (F355C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991634	NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val)	FAM161A (G366V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 991312	NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala)	FAM161A (E413A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991311	NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 991310	NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys)	FAM161A (R495C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991309	NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His)	FAM161A (R495H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 991308	NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr)	FAM161A (A526T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 991307	NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys)	FAM161A (E546K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991306	NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe)	FAM161A (L549F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 991305	NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp)	FAM161A (N600D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991304	NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His)	FAM161A (D638H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 970086	NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln)	FAM161A (R540Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 969821	NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly)	FAM161A (E197G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 969367	NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys)	FAM161A (E587K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 968279	NM_001201543.2(FAM161A):c.1851+4G>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 968278	NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del)	FAM161A, LOC129933843 (E52del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 966793	NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly)	FAM161A (R407G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 965597	NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn)	FAM161A (K551N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 965386	NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala)	FAM161A (V233A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 965276	NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter)	FAM161A (N601* +1 more)	Insertion (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 964047	NM_001201543.2(FAM161A):c.1666C>T (p.Gln556Ter)	FAM161A (Q556*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 962452	NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg)	FAM161A, LOC129933843 (Q29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 961612	NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp)	FAM161A (R562W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 955080	NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr)	FAM161A, LOC129933843 (A28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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