ClinVar for Gene (Select 84140) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3062602	GRCh37/hg19 2p15(chr2:61518864-62195531)x3	CCT4, COMMD1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3062588	GRCh37/hg19 2p16.1-15(chr2:61215496-62175386)x3	C2orf74, CCT4 +7 more	Copy number gain	not specified	GUncertain significance
Select item 3028848	NM_001201543.2(FAM161A):c.880C>T (p.Pro294Ser)	FAM161A (P294S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028847	NM_001201543.2(FAM161A):c.908A>G (p.Lys303Arg)	FAM161A (K303R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028846	NM_001201543.2(FAM161A):c.1197T>C (p.Pro399=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028845	NM_001201543.2(FAM161A):c.1214G>C (p.Gly405Ala)	FAM161A (G405A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3020239	NM_001201543.2(FAM161A):c.1380T>C (p.His460=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019963	NM_001201543.2(FAM161A):c.102C>T (p.Asp34=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3013388	NM_001201543.2(FAM161A):c.1751+14A>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009565	NM_001201543.2(FAM161A):c.1830G>C (p.Leu610=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006132	NM_001201543.2(FAM161A):c.540C>T (p.Asn180=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000801	NM_001201543.2(FAM161A):c.2007-10C>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998522	NM_001201543.2(FAM161A):c.1138C>T (p.Arg380Ter)	FAM161A (R380*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2992396	NC_000002.12:g.61836108_61836111del	FAM161A	Deletion	not provided	GPathogenic
Select item 2990882	NM_001201543.2(FAM161A):c.184-12del	FAM161A	Deletion (intron variant)	not provided	GBenign
Select item 2989751	NM_001201543.2(FAM161A):c.760G>T (p.Glu254Ter)	FAM161A (E254*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2989265	NM_001201543.2(FAM161A):c.1447T>C (p.Leu483=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987787	NM_001201543.2(FAM161A):c.559A>C (p.Arg187=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2987087	NM_001201543.2(FAM161A):c.2133T>A (p.Ser711=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2978923	NM_001201543.2(FAM161A):c.240G>A (p.Glu80=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2977716	NM_001201543.2(FAM161A):c.1150dup (p.Thr384fs)	FAM161A (T384fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2976083	NM_001201543.2(FAM161A):c.882C>T (p.Pro294=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973449	NM_001201543.2(FAM161A):c.2006+15A>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972389	NM_001201543.2(FAM161A):c.1751+14dup	FAM161A	Duplication (intron variant)	not provided	GBenign
Select item 2966519	NM_001201543.2(FAM161A):c.1852-6C>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966442	NM_001201543.2(FAM161A):c.954T>C (p.Leu318=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960351	NM_001201543.2(FAM161A):c.423-20T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958277	NM_001201543.2(FAM161A):c.1140A>C (p.Arg380=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2918263	NM_001201543.2(FAM161A):c.1851+12T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916767	NM_001201543.2(FAM161A):c.422+17A>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913720	NM_001201543.2(FAM161A):c.1851+9T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910711	NM_001201543.2(FAM161A):c.422+19G>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903545	NM_001201543.2(FAM161A):c.183+12G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897714	NM_001201543.2(FAM161A):c.1011C>T (p.Ala337=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2895089	NM_001201543.2(FAM161A):c.1227C>G (p.Pro409=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2890274	NM_001201543.2(FAM161A):c.2006+15_2006+17del	FAM161A	Deletion (intron variant)	not provided	GLikely benign
Select item 2890259	NM_001201543.2(FAM161A):c.1752-13T>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886277	NM_001201543.2(FAM161A):c.1833A>G (p.Leu611=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2885886	NM_001201543.2(FAM161A):c.1583+16G>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884857	NM_001201543.2(FAM161A):c.9C>T (p.Thr3=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2883700	NM_001201543.2(FAM161A):c.422+18T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874909	NM_001201543.2(FAM161A):c.1752-12C>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874242	NM_001201543.2(FAM161A):c.1851+8T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873099	NM_001201543.2(FAM161A):c.1852-16T>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872786	NM_001201543.2(FAM161A):c.804G>T (p.Ala268=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2871925	NM_001201543.2(FAM161A):c.1937_1940delinsACT (p.Gly646fs)	FAM161A (G646fs +1 more)	Indel (frameshift variant +1 more)	not provided	GPathogenic
Select item 2870878	NM_001201543.2(FAM161A):c.528G>A (p.Glu176=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870231	NM_001201543.2(FAM161A):c.627G>A (p.Glu209=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869373	NM_001201543.2(FAM161A):c.1405del (p.Arg469fs)	FAM161A (R469fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +1 more	GPathogenic
Select item 2867325	NM_001201543.2(FAM161A):c.579C>T (p.Thr193=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864776	NM_001201543.2(FAM161A):c.210G>A (p.Gly70=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864024	NM_001201543.2(FAM161A):c.183+15G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861435	NM_001201543.2(FAM161A):c.1903C>T (p.Leu635=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861235	NM_001201543.2(FAM161A):c.1300del (p.Leu434fs)	FAM161A (L434fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2856519	NM_001201543.2(FAM161A):c.585T>C (p.Ala195=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2855943	NM_001201543.2(FAM161A):c.690A>G (p.Lys230=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2854867	NM_001201543.2(FAM161A):c.1116G>A (p.Lys372=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2853736	NM_001201543.2(FAM161A):c.1686G>A (p.Arg562=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2851061	NM_001201543.2(FAM161A):c.183+9G>T	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848580	NM_001201543.2(FAM161A):c.51C>A (p.Thr17=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848526	NM_001201543.2(FAM161A):c.495G>A (p.Gln165=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848427	NM_001201543.2(FAM161A):c.1134C>A (p.Leu378=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846996	NM_001201543.2(FAM161A):c.990G>A (p.Arg330=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845504	NM_001201543.2(FAM161A):c.51C>T (p.Thr17=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845146	NM_001201543.2(FAM161A):c.56del (p.Val19fs)	FAM161A, LOC129933843 (V19fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2845057	NM_001201543.2(FAM161A):c.1164C>G (p.Ala388=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843246	NM_001201543.2(FAM161A):c.1583+9G>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840515	NM_001201543.2(FAM161A):c.1205C>A (p.Ser402Ter)	FAM161A (S402*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2837235	NM_001201543.2(FAM161A):c.757G>T (p.Glu253Ter)	FAM161A (E253*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2835935	NM_001201543.2(FAM161A):c.1583+19G>A	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835723	NM_001201543.2(FAM161A):c.270C>T (p.His90=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2835096	NM_001201543.2(FAM161A):c.184-8C>T	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833100	NM_001201543.2(FAM161A):c.1873_1876del (p.Glu625fs)	FAM161A (E569fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2828490	NM_001201543.2(FAM161A):c.726T>C (p.Phe242=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2825643	NM_001201543.2(FAM161A):c.1819_1820del (p.Lys607fs)	FAM161A (K607fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2825547	NM_001201543.2(FAM161A):c.2046G>A (p.Gly682=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2823512	NM_001201543.2(FAM161A):c.1047A>G (p.Lys349=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818655	NM_001201543.2(FAM161A):c.1515C>T (p.Asn505=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818048	NM_001201543.2(FAM161A):c.654C>T (p.Gly218=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2817867	NM_001201543.2(FAM161A):c.423-4T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814983	NM_001201543.2(FAM161A):c.1926T>C (p.Val642=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2812990	NM_001201543.2(FAM161A):c.1928C>G (p.Ser643Ter)	FAM161A (S587* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2812501	NM_001201543.2(FAM161A):c.1245T>A (p.Ala415=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2811260	NM_001201543.2(FAM161A):c.1137T>G (p.Tyr379Ter)	FAM161A (Y379*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2808199	NM_001201543.2(FAM161A):c.1902A>G (p.Ala634=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2803728	NM_001201543.2(FAM161A):c.1104T>C (p.Thr368=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802987	NM_001201543.2(FAM161A):c.1311A>G (p.Arg437=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801532	NM_001201543.2(FAM161A):c.1215A>C (p.Gly405=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796486	NM_001201543.2(FAM161A):c.690del (p.Glu231fs)	FAM161A (E231fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2792020	NM_001201543.2(FAM161A):c.183+9G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791089	NM_001201543.2(FAM161A):c.1684C>G (p.Arg562Gly)	FAM161A (R562G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2789146	NM_001201543.2(FAM161A):c.1584-13T>C	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772343	NM_001201543.2(FAM161A):c.422+12A>G	FAM161A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770990	NM_001201543.2(FAM161A):c.2106C>T (p.Ala702=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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