"Natera, Inc."[submitter] AND "FAM161A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553904	NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del)	FAM161A (E709del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	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 862611	NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr)	FAM161A (D633Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 336733	NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 858459	NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp)	FAM161A (N615D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 336734	NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 933948	NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met)	FAM161A (T604M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 336735	NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys)	FAM161A (N657K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +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 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 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 718004	NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp)	FAM161A (E597D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
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 968279	NM_001201543.2(FAM161A):c.1851+4G>A	FAM161A	Single nucleotide variant (intron variant)	not provided	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 991306	NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe)	FAM161A (L549F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 39	NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter)	FAM161A (R596* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
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 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 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 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 1170919	NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 28 +2 more	GBenign/Likely benign
Select item 785964	NM_001201543.2(FAM161A):c.1655T>G (p.Met552Arg)	FAM161A (M552R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 948824	NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln)	FAM161A (R543Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 764814	NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 953498	NM_001201543.2(FAM161A):c.1584-2A>G	FAM161A	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 853937	NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu)	FAM161A (V527L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991308	NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr)	FAM161A (A526T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +3 more	GPathogenic
Select item 744264	NM_001201543.2(FAM161A):c.1554A>G (p.Val518=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 714957	NM_001201543.2(FAM161A):c.1551G>A (p.Thr517=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 552429	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A (C501fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 991309	NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His)	FAM161A (R495H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28 +1 more	GUncertain significance
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 1125961	NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 236499	NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter)	FAM161A (W488*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +1 more	GPathogenic
Select item 898704	NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly)	FAM161A (W488G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	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 167057	NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys)	FAM161A (E481K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 844250	NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu)	FAM161A (V453L)	Single nucleotide variant (missense variant +1 more)	not provided	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 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic
Select item 811992	NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu)	FAM161A (S443L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28 +1 more	GUncertain significance
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)	not provided +3 more	GPathogenic
Select item 336738	NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile)	FAM161A (V424I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	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 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 898706	NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg)	FAM161A (G405R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 96217	NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +4 more	GBenign
Select item 96216	NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)	FAM161A (Q385E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 936885	NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys)	FAM161A (Y379C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 167058	NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)	FAM161A (L378R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 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 991634	NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val)	FAM161A (G366V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 895729	NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu)	FAM161A (R362L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
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 856314	NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln)	FAM161A (R354Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 728519	NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895730	NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu)	FAM161A (K340E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 336739	NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)	FAM161A (R338Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 896010	NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val)	FAM161A (I328V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 840223	NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln)	FAM161A (E312Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 794008	NM_001201543.2(FAM161A):c.924G>A (p.Arg308=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 336740	NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp)	FAM161A (R306W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 717824	NM_001201543.2(FAM161A):c.906A>G (p.Gln302=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely 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 715903	NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)	FAM161A (E273K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 939287	NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr)	FAM161A (P241T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798697	NM_001201543.2(FAM161A):c.720G>A (p.Glu240=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 336742	NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val)	FAM161A (I236V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GBenign
Select item 1002116	NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys)	FAM161A (T235K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 849485	NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln)	FAM161A (R229Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 35	NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter)	FAM161A (R229*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic
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 863809	NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp)	FAM161A (N200D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 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 991638	NM_001201543.2(FAM161A):c.516C>G (p.Ser172=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 808753	NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg)	FAM161A (Q165R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 858757	NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp)	FAM161A (E145D)	Single nucleotide variant (missense variant)	not provided +1 more	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 775173	NM_001201543.2(FAM161A):c.423-7C>T	FAM161A	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 840586	NM_001201543.2(FAM161A):c.422+3A>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 738534	NM_001201543.2(FAM161A):c.337T>C (p.Leu113=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 336744	NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met)	FAM161A (I107M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
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 735428	NM_001201543.2(FAM161A):c.252C>T (p.Asn84=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 792372	NM_001201543.2(FAM161A):c.228G>A (p.Pro76=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 167059	NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	FAM161A (T66I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 854864	NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu)	FAM161A, LOC129933843 (S61L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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