"Baylor Genetics"[submitter] AND "FAM161A"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2675387	NM_001201543.2(FAM161A):c.2006+1G>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
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 550916	NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs)	FAM161A (G649fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 952865	NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs)	FAM161A (S568fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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 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 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 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 3241528	NM_001201543.2(FAM161A):c.1583+2T>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
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 2675382	NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)	FAM161A (C509fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 552429	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A (C501fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely pathogenic
Select item 236499	NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)	FAM161A (W488*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
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 2675389	NM_001201543.2(FAM161A):c.1336_1337del (p.Lys446fs)	FAM161A (K446fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 812322	NM_001201543.2(FAM161A):c.1321dup (p.His441fs)	FAM161A (H441fs)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
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 425201	NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter)	FAM161A (C404*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely 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 2675371	NM_001201543.2(FAM161A):c.1109del (p.Asn370fs)	FAM161A (N370fs)	Deletion (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 854879	NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter)	FAM161A (R354*)	Single nucleotide variant (nonsense +1 more)	not provided +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 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 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 497934	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	FAM161A (R335*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 2675398	NM_001201543.2(FAM161A):c.981del (p.Phe327fs)	FAM161A (F327fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 828065	NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter)	FAM161A (K315*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic
Select item 546864	NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)	FAM161A (R283*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely 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 2675392	NM_001201543.2(FAM161A):c.688_700dup (p.Pro234fs)	FAM161A (P234fs)	Duplication (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 35	NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A (R229*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 438166	NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs)	FAM161A (K227fs)	Microsatellite (frameshift variant +1 more)	Retinitis pigmentosa 28	GPathogenic
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 2675374	NM_001201543.2(FAM161A):c.534del (p.Leu178fs)	FAM161A (L178fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely 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 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 2009553	NM_001201543.2(FAM161A):c.449del (p.His150fs)	FAM161A (H150fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 2675394	NM_001201543.2(FAM161A):c.421del (p.Arg141fs)	FAM161A (R141fs)	Deletion (frameshift variant +1 more)	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 862775	NM_001201543.2(FAM161A):c.379C>T (p.Gln127Ter)	FAM161A (Q127*)	Single nucleotide variant (nonsense +1 more)	not provided +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 2675397	NM_001201543.2(FAM161A):c.356del (p.Asp119fs)	FAM161A (D119fs)	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 647059	NM_001201543.2(FAM161A):c.336del (p.Lys112fs)	FAM161A (K112fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely pathogenic
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 930589	NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer)	FAM161A	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic/Likely 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 950837	NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter)	FAM161A (E93*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely 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 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 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 3241530	NM_001201543.2(FAM161A):c.105del (p.Pro35_Leu36insTer)	FAM161A, LOC129933843	Deletion (frameshift variant +1 more)	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 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 3241524	NM_001201543.2(FAM161A):c.64del (p.Ile22fs)	FAM161A, LOC129933843 (I22fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 625544	GRCh37/hg19 2p16.1-15(chr2:57445335-62733206)	B3GNT2, BCL11A +14 more	Copy number loss	not provided	GLikely pathogenic

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Items: 69