ClinVar for Gene (Select 10940) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3216780	NM_001145860.2(POP1):c.791A>G (p.Lys264Arg)	POP1 (K264R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216779	NM_001145860.2(POP1):c.581G>A (p.Arg194His)	POP1 (R194H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216777	NM_001145860.2(POP1):c.3064A>G (p.Ile1022Val)	POP1 (I1022V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3216775	NM_001145860.2(POP1):c.2999C>A (p.Ala1000Glu)	POP1 (A1000E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216774	NM_001145860.2(POP1):c.2966G>C (p.Gly989Ala)	POP1 (G989A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216773	NM_001145860.2(POP1):c.2932T>C (p.Cys978Arg)	POP1 (C978R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216772	NM_001145860.2(POP1):c.2707C>G (p.Pro903Ala)	POP1 (P903A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216771	NM_001145860.2(POP1):c.238A>T (p.Met80Leu)	POP1 (M80L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216770	NM_001145860.2(POP1):c.2183C>T (p.Ala728Val)	POP1 (A728V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216769	NM_001145860.2(POP1):c.2140G>C (p.Asp714His)	POP1 (D714H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216768	NM_001145860.2(POP1):c.1510A>C (p.Ile504Leu)	POP1 (I504L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216767	NM_001145860.2(POP1):c.1402A>T (p.Ile468Leu)	POP1 (I468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216765	NM_001145860.2(POP1):c.1172A>G (p.Glu391Gly)	POP1 (E391G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3216764	NM_001145860.2(POP1):c.1028T>C (p.Ile343Thr)	POP1 (I343T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068111	NM_001145860.2(POP1):c.486+2T>C	POP1	Single nucleotide variant (splice donor variant)	Anauxetic dysplasia 2	GLikely pathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3050944	NM_001145860.2(POP1):c.228C>T (p.Ser76=)	POP1	Single nucleotide variant (synonymous variant)	POP1-related condition	GLikely benign
Select item 3008990	NM_001145860.2(POP1):c.2085C>T (p.Tyr695=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002571	NM_001145860.2(POP1):c.54C>T (p.Thr18=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001580	NM_001145860.2(POP1):c.421C>T (p.Arg141Ter)	POP1 (R141*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2989406	NM_001145860.2(POP1):c.222G>A (p.Gln74=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985165	NM_001145860.2(POP1):c.1594+18C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983276	NM_001145860.2(POP1):c.1710+17G>A	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977210	NM_001145860.2(POP1):c.2863G>A (p.Val955Met)	POP1 (V955M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975670	NM_001145860.2(POP1):c.311-2A>G	POP1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2975552	NM_001145860.2(POP1):c.1833A>T (p.Arg611=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974258	NM_001145860.2(POP1):c.699C>G (p.Ala233=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974033	NM_001145860.2(POP1):c.1268+17C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969675	NM_001145860.2(POP1):c.2167G>T (p.Glu723Ter)	POP1 (E723*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2964739	NM_001145860.2(POP1):c.2873A>C (p.His958Pro)	POP1 (H958P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964715	NM_001145860.2(POP1):c.2811G>T (p.Val937=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960960	NM_001145860.2(POP1):c.816del (p.Ile272fs)	POP1 (I272fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2959570	NM_001145860.2(POP1):c.487-16C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959273	NM_001145860.2(POP1):c.544C>A (p.Arg182=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958338	NM_001145860.2(POP1):c.1410C>T (p.Thr470=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957186	NM_001145860.2(POP1):c.1200C>T (p.Ile400=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955402	NM_001145860.2(POP1):c.1863A>G (p.Leu621=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902831	NM_001145860.2(POP1):c.846C>T (p.His282=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890655	NM_001145860.2(POP1):c.2057+9C>T	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889098	NM_001145860.2(POP1):c.2934T>C (p.Cys978=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881049	NM_001145860.2(POP1):c.824-12T>C	POP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2875802	NM_001145860.2(POP1):c.1474+18T>C	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860626	NM_001145860.2(POP1):c.2856G>A (p.Leu952=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859983	NM_001145860.2(POP1):c.138A>G (p.Lys46=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859646	NM_001145860.2(POP1):c.2511G>A (p.Gln837=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839590	NM_001145860.2(POP1):c.1989T>A (p.Phe663Leu)	POP1 (F663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832131	NM_001145860.2(POP1):c.1728G>A (p.Arg576=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827718	NM_001145860.2(POP1):c.2850C>G (p.Gly950=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821791	NM_001145860.2(POP1):c.1518A>G (p.Gly506=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809451	NM_001145860.2(POP1):c.64C>T (p.Leu22=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799769	NM_001145860.2(POP1):c.1026A>G (p.Glu342=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790409	NM_001145860.2(POP1):c.2420+10G>A	POP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789349	NM_001145860.2(POP1):c.2125G>A (p.Glu709Lys)	POP1 (E709K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770773	NM_001145860.2(POP1):c.1362+2T>G	POP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2731772	NM_001145860.2(POP1):c.927G>T (p.Thr309=)	POP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2719888	NM_001145860.2(POP1):c.706C>T (p.Arg236Ter)	POP1 (R236*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2691391	NC_000008.10:g.(?_99130067)_(99146888_99148709)dup	POP1	Duplication	not specified	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2661978	NM_001145860.2(POP1):c.984G>T (p.Trp328Cys)	POP1 (W328C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658705	NM_001145860.2(POP1):c.2280C>T (p.Gly760=)	POP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634959	NM_001145860.2(POP1):c.2332C>T (p.Gln778Ter)	POP1 (Q778*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2622569	NM_001145860.2(POP1):c.197T>C (p.Leu66Pro)	POP1 (L66P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595713	NM_001145860.2(POP1):c.499G>A (p.Val167Ile)	POP1 (V167I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552406	NM_001145860.2(POP1):c.3046C>G (p.Arg1016Gly)	POP1 (R1016G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550505	NM_001145860.2(POP1):c.1256G>A (p.Gly419Asp)	POP1 (G419D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548135	NM_001145860.2(POP1):c.642G>C (p.Met214Ile)	POP1 (M214I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545992	NM_001145860.2(POP1):c.352A>G (p.Met118Val)	POP1 (M118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545634	NM_001145860.2(POP1):c.562C>T (p.Arg188Trp)	POP1 (R188W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527365	NM_001145860.2(POP1):c.2940A>C (p.Glu980Asp)	POP1 (E980D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508853	NM_001145860.2(POP1):c.2759G>A (p.Arg920Lys)	POP1 (R920K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504512	NM_001145860.2(POP1):c.2646C>G (p.Asp882Glu)	POP1 (D882E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2481604	NM_001145860.2(POP1):c.2687A>G (p.Gln896Arg)	POP1 (Q896R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2426944	NC_000008.10:g.(?_98358247)_(106815766_?)dup	ANKRD46, ATP6V1C1 +40 more	Duplication	not provided	GUncertain significance
Select item 2421564	NM_001145860.2(POP1):c.794C>T (p.Ala265Val)	POP1 (A265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416790	NM_001145860.2(POP1):c.304A>G (p.Ile102Val)	POP1 (I102V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414724	NM_001145860.2(POP1):c.1277C>T (p.Thr426Met)	POP1 (T426M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2411602	NM_001145860.2(POP1):c.1664A>G (p.Asn555Ser)	POP1 (N555S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398286	NM_001145860.2(POP1):c.668G>C (p.Gly223Ala)	POP1 (G223A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388644	NM_001145860.2(POP1):c.1393C>T (p.Arg465Cys)	POP1 (R465C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328125	NM_001145860.2(POP1):c.419G>A (p.Arg140Gln)	POP1 (R140Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322171	NM_001145860.2(POP1):c.130G>C (p.Ala44Pro)	POP1 (A44P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2306705	NM_001145860.2(POP1):c.2747A>G (p.Lys916Arg)	POP1 (K916R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294591	NM_001145860.2(POP1):c.1078G>A (p.Ala360Thr)	POP1 (A360T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2279318	NM_001145860.2(POP1):c.2831C>T (p.Thr944Ile)	POP1 (T944I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271337	NM_001145860.2(POP1):c.1805A>G (p.Gln602Arg)	POP1 (Q602R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266753	NM_001145860.2(POP1):c.370C>G (p.Gln124Glu)	POP1 (Q124E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266526	NM_001145860.2(POP1):c.2867C>T (p.Thr956Met)	POP1 (T956M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262452	NM_001145860.2(POP1):c.595A>T (p.Asn199Tyr)	POP1 (N199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232625	NM_001145860.2(POP1):c.2944C>A (p.Leu982Met)	POP1 (L982M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227748	NM_001145860.2(POP1):c.769G>A (p.Gly257Ser)	POP1 (G257S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218667	NM_001145860.2(POP1):c.2161G>A (p.Ala721Thr)	POP1 (A721T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217702	NM_001145860.2(POP1):c.2999C>T (p.Ala1000Val)	POP1 (A1000V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2216148	NM_001145860.2(POP1):c.1195dup (p.Ile399fs)	POP1 (I399fs)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2215442	NM_001145860.2(POP1):c.1499C>T (p.Pro500Leu)	POP1 (P500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2196530	NM_001145860.2(POP1):c.380C>T (p.Ser127Leu)	POP1 (S127L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2192624	NM_001145860.2(POP1):c.2824G>C (p.Ala942Pro)	POP1 (A942P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2191047	NM_001145860.2(POP1):c.2842T>C (p.Trp948Arg)	POP1 (W948R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190663	NM_001145860.2(POP1):c.170G>A (p.Arg57Gln)	POP1 (R57Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2190432	NM_001145860.2(POP1):c.863G>A (p.Arg288His)	POP1 (R288H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189925	NM_001145860.2(POP1):c.2933G>A (p.Cys978Tyr)	POP1 (C978Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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