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

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3091933	NM_001201543.2(FAM161A):c.2104G>A (p.Ala702Thr)	FAM161A (A702T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091932	NM_001201543.2(FAM161A):c.2050G>C (p.Glu684Gln)	FAM161A (E628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228840	NM_001201543.2(FAM161A):c.2045G>C (p.Gly682Ala)	FAM161A (G682A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324073	NM_001201543.2(FAM161A):c.1949A>G (p.Lys650Arg)	FAM161A (K650R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2261115	NM_001201543.2(FAM161A):c.1768A>G (p.Arg590Gly)	FAM161A (R534G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2328453	NM_001201543.2(FAM161A):c.1718C>G (p.Ala573Gly)	FAM161A (A573G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091931	NM_001201543.2(FAM161A):c.1627C>T (p.Arg543Trp)	FAM161A (R543W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 808752	NM_001201543.2(FAM161A):c.1602G>T (p.Lys534Asn)	FAM161A (K534N)	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2139695	NM_001201543.2(FAM161A):c.1543G>A (p.Val515Met)	FAM161A (V515M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2074399	NM_001201543.2(FAM161A):c.1534A>C (p.Asn512His)	FAM161A (N512H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2472032	NM_001201543.2(FAM161A):c.1460G>T (p.Arg487Leu)	FAM161A (R487L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1000501	NM_001201543.2(FAM161A):c.1453G>A (p.Glu485Lys)	FAM161A (E485K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 167057	NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys)	FAM161A (E481K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 812322	NM_001201543.2(FAM161A):c.1321dup (p.His441fs)	FAM161A (H441fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic
Select item 336738	NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile)	FAM161A (V424I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 3091929	NM_001201543.2(FAM161A):c.1211G>A (p.Cys404Tyr)	FAM161A (C404Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2140257	NM_001201543.2(FAM161A):c.1192C>G (p.Leu398Val)	FAM161A (L398V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619127	NM_001201543.2(FAM161A):c.1190C>T (p.Pro397Leu)	FAM161A (P397L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2731827	NM_001201543.2(FAM161A):c.1184C>T (p.Ser395Leu)	FAM161A (S395L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3091928	NM_001201543.2(FAM161A):c.1175T>C (p.Leu392Ser)	FAM161A (L392S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 1487810	NM_001201543.2(FAM161A):c.1057A>G (p.Asn353Asp)	FAM161A (N353D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2145905	NM_001201543.2(FAM161A):c.1006G>A (p.Ala336Thr)	FAM161A (A336T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 3091935	NM_001201543.2(FAM161A):c.917G>A (p.Arg306Gln)	FAM161A (R306Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489462	NM_001201543.2(FAM161A):c.896T>C (p.Leu299Ser)	FAM161A (L299S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2162271	NM_001201543.2(FAM161A):c.890A>G (p.His297Arg)	FAM161A (H297R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070270	NM_001201543.2(FAM161A):c.883C>G (p.Leu295Val)	FAM161A (L295V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2254668	NM_001201543.2(FAM161A):c.863C>G (p.Pro288Arg)	FAM161A (P288R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2179798	NM_001201543.2(FAM161A):c.848G>A (p.Arg283Gln)	FAM161A (R283Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2536213	NM_001201543.2(FAM161A):c.821A>G (p.Glu274Gly)	FAM161A (E274G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2613037	NM_001201543.2(FAM161A):c.758A>G (p.Glu253Gly)	FAM161A (E253G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1485895	NM_001201543.2(FAM161A):c.625G>A (p.Glu209Lys)	FAM161A (E209K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 2277698	NM_001201543.2(FAM161A):c.518C>T (p.Ser173Phe)	FAM161A (S173F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259680	NM_001201543.2(FAM161A):c.506T>C (p.Leu169Ser)	FAM161A (L169S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 808753	NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg)	FAM161A (Q165R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +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 2275369	NM_001201543.2(FAM161A):c.353A>T (p.Gln118Leu)	FAM161A (Q118L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1398396	NM_001201543.2(FAM161A):c.227C>T (p.Pro76Leu)	FAM161A (P76L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2557105	NM_001201543.2(FAM161A):c.184G>A (p.Ala62Thr)	FAM161A (A62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 866876	NM_001201543.2(FAM161A):c.139G>C (p.Glu47Gln)	FAM161A, LOC129933843 (E47Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 2609162	NM_001201543.2(FAM161A):c.115C>G (p.Leu39Val)	FAM161A, LOC129933843 (L39V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 52