ClinVar for Gene (Select 9060) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304292	NM_001015880.2(PAPSS2):c.405A>G (p.Ile135Met)	PAPSS2 (I135M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304291	NM_001015880.2(PAPSS2):c.1121G>A (p.Gly374Glu)	PAPSS2 (G369E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304290	NM_001015880.2(PAPSS2):c.275C>A (p.Ser92Tyr)	PAPSS2 (S92Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304289	NM_001015880.2(PAPSS2):c.265C>G (p.Leu89Val)	PAPSS2 (L89V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3304288	NM_001015880.2(PAPSS2):c.1460C>T (p.Pro487Leu)	PAPSS2 (P487L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244887	NC_000010.10:g.(?_88514773)_(89725229_?)del	ADIRF, ADIRF-AS1 +13 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 3208526	NM_001015880.2(PAPSS2):c.891C>G (p.Ile297Met)	PAPSS2 (I297M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208524	NM_001015880.2(PAPSS2):c.625C>A (p.Leu209Ile)	PAPSS2 (L209I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208523	NM_001015880.2(PAPSS2):c.1643C>A (p.Thr548Asn)	PAPSS2 (T543N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208522	NM_001015880.2(PAPSS2):c.1573C>G (p.Pro525Ala)	PAPSS2 (P520A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208521	NM_001015880.2(PAPSS2):c.1423G>T (p.Val475Phe)	PAPSS2 (V470F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208520	NM_001015880.2(PAPSS2):c.1411C>T (p.Leu471Phe)	PAPSS2 (L466F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208519	NM_001015880.2(PAPSS2):c.1354T>C (p.Trp452Arg)	PAPSS2 (W447R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208518	NM_001015880.2(PAPSS2):c.1102G>T (p.Gly368Trp)	PAPSS2 (G368W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3208517	NM_001015880.2(PAPSS2):c.1046G>A (p.Arg349His)	PAPSS2 (R344H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067937	NM_001015880.2(PAPSS2):c.866-1G>A	PAPSS2	Single nucleotide variant (splice acceptor variant +1 more)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 3067558	NM_001015880.2(PAPSS2):c.1809C>T (p.Pro603=)	PAPSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3015411	NM_001015880.2(PAPSS2):c.1350C>G (p.Gly450=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 3012764	NM_001015880.2(PAPSS2):c.28G>T (p.Glu10Ter)	PAPSS2 (E10*)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 2994671	NM_001015880.2(PAPSS2):c.987G>A (p.Arg329=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2992717	NM_001015880.2(PAPSS2):c.681C>G (p.Leu227=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2988978	NM_001015880.2(PAPSS2):c.1492-10C>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2988905	NM_001015880.2(PAPSS2):c.1185T>G (p.Pro395=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2977248	NM_001015880.2(PAPSS2):c.1492-7T>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2918642	NM_001015880.2(PAPSS2):c.865+17G>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2918559	NM_001015880.2(PAPSS2):c.1045C>T (p.Arg349Cys)	PAPSS2 (R349C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2917936	NM_001015880.2(PAPSS2):c.1247G>A (p.Arg416His)	PAPSS2 (R411H +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2913750	NM_001015880.2(PAPSS2):c.382-8C>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2907725	NM_001015880.2(PAPSS2):c.1005C>T (p.Asp335=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2890977	NM_001015880.2(PAPSS2):c.963T>C (p.Phe321=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2890624	NM_001015880.2(PAPSS2):c.981A>G (p.Gly327=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2888071	NM_001015880.2(PAPSS2):c.398G>T (p.Arg133Leu)	PAPSS2 (R133L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GUncertain significance
Select item 2860064	NM_001015880.2(PAPSS2):c.1286A>G (p.Asp429Gly)	PAPSS2 (D424G +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2853317	NM_001015880.2(PAPSS2):c.521-13A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2851781	NM_001015880.2(PAPSS2):c.1721+16A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2834238	NM_001015880.2(PAPSS2):c.1222+8A>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2811767	NM_001015880.2(PAPSS2):c.881-18A>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2811765	NM_001015880.2(PAPSS2):c.881-19_881-18insTT	PAPSS2	Insertion (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2810412	NM_001015880.2(PAPSS2):c.382-12A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2809497	NM_001015880.2(PAPSS2):c.705C>T (p.Asp235=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2805015	NM_001015880.2(PAPSS2):c.1223-14C>T	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2791800	NM_001015880.2(PAPSS2):c.1273del (p.Leu425fs)	PAPSS2 (L420fs +1 more)	Deletion (frameshift variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 2783487	NM_001015880.2(PAPSS2):c.885C>G (p.Gly295=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2781714	NM_001015880.2(PAPSS2):c.1395G>A (p.Lys465=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2776888	NM_001015880.2(PAPSS2):c.1770C>T (p.Ala590=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2770670	NM_001015880.2(PAPSS2):c.1325C>G (p.Pro442Arg)	PAPSS2 (P437R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2766015	NM_001015880.2(PAPSS2):c.429_431del (p.Phe144del)	PAPSS2 (F144del)	Deletion (inframe_deletion)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2751729	NM_001015880.2(PAPSS2):c.1767C>T (p.Leu589=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2751429	NM_001015880.2(PAPSS2):c.639+11C>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2737479	NM_001015880.2(PAPSS2):c.814A>T (p.Met272Leu)	PAPSS2 (M272L)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2729424	NM_001015880.2(PAPSS2):c.1452C>T (p.Ala484=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2723010	NM_001015880.2(PAPSS2):c.1662A>G (p.Pro554=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2718941	NM_001015880.2(PAPSS2):c.1239C>T (p.Phe413=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2710470	NM_001015880.2(PAPSS2):c.855C>A (p.Thr285=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2704882	NM_001015880.2(PAPSS2):c.1157A>G (p.Asp386Gly)	PAPSS2 (D381G +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2672405	NM_001015880.2(PAPSS2):c.1037G>C (p.Arg346Pro)	PAPSS2 (R341P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2640660	NM_001015880.2(PAPSS2):c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	Insertion (intron variant)	not provided	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2519237	NM_001015880.2(PAPSS2):c.1006G>A (p.Ala336Thr)	PAPSS2 (A331T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424128	NC_000010.10:g.(?_89468933)_(89574356_?)dup	ATAD1, PAPSS2	Duplication	not provided	GUncertain significance
Select item 2422865	NC_000010.10:g.(?_88428449)_(89725229_?)del	ADIRF, ADIRF-AS1 +14 more	Deletion	PTEN hamartoma tumor syndrome	GPathogenic
Select item 2418332	NM_001015880.2(PAPSS2):c.1721+5G>A	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2395877	NM_001015880.2(PAPSS2):c.568C>T (p.Arg190Cys)	PAPSS2 (R190C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2393083	NM_001015880.2(PAPSS2):c.1402G>A (p.Ala468Thr)	PAPSS2 (A468T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302164	NM_001015880.2(PAPSS2):c.1587G>T (p.Lys529Asn)	PAPSS2 (K524N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295580	NM_001015880.2(PAPSS2):c.59A>G (p.Tyr20Cys)	PAPSS2 (Y20C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268381	NM_001015880.2(PAPSS2):c.1516A>G (p.Met506Val)	PAPSS2 (M501V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245740	NM_001015880.2(PAPSS2):c.1799T>C (p.Phe600Ser)	PAPSS2 (F595S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215986	NM_001015880.2(PAPSS2):c.1829C>G (p.Thr610Arg)	PAPSS2 (T605R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200912	NM_001015880.2(PAPSS2):c.1063T>C (p.Cys355Arg)	PAPSS2 (C355R +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2200342	NM_001015880.2(PAPSS2):c.982C>T (p.Arg328Trp)	PAPSS2 (R323W +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2195692	NM_001015880.2(PAPSS2):c.1492-3T>C	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2192911	NM_001015880.2(PAPSS2):c.1709A>G (p.Tyr570Cys)	PAPSS2 (Y565C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2169294	NM_001015880.2(PAPSS2):c.1322A>T (p.His441Leu)	PAPSS2 (H436L +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2165979	NM_001015880.2(PAPSS2):c.1313G>A (p.Gly438Asp)	PAPSS2 (G433D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2163373	NM_001015880.2(PAPSS2):c.1563A>C (p.Gly521=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2160605	NM_001015880.2(PAPSS2):c.1714C>A (p.Pro572Thr)	PAPSS2 (P572T +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2160604	NM_001015880.2(PAPSS2):c.880+3A>G	PAPSS2	Single nucleotide variant (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2154559	NM_001015880.2(PAPSS2):c.1741A>C (p.Ile581Leu)	PAPSS2 (I576L +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2149336	NM_001015880.2(PAPSS2):c.60T>C (p.Tyr20=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2148465	NM_001015880.2(PAPSS2):c.1207A>G (p.Lys403Glu)	PAPSS2 (K403E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2140719	NM_001015880.2(PAPSS2):c.1036C>T (p.Arg346Cys)	PAPSS2 (R341C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2135914	NM_001015880.2(PAPSS2):c.1671G>C (p.Val557=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2118414	NM_001015880.2(PAPSS2):c.998T>A (p.Leu333Ter)	PAPSS2 (L328* +1 more)	Single nucleotide variant (nonsense)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GPathogenic
Select item 2118413	NM_001015880.2(PAPSS2):c.520+1G>A	PAPSS2	Single nucleotide variant (splice donor variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely pathogenic
Select item 2071757	NM_001015880.2(PAPSS2):c.709G>A (p.Val237Ile)	PAPSS2 (V237I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GUncertain significance
Select item 2070131	NM_001015880.2(PAPSS2):c.1115T>C (p.Val372Ala)	PAPSS2 (V367A +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type +1 more	GUncertain significance
Select item 2066833	NM_001015880.2(PAPSS2):c.1351G>A (p.Gly451Ser)	PAPSS2 (G451S +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2066459	NM_001015880.2(PAPSS2):c.451C>T (p.Pro151Ser)	PAPSS2 (P151S)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2063684	NM_001015880.2(PAPSS2):c.397C>T (p.Arg133Cys)	PAPSS2 (R133C)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2051085	NM_001015880.2(PAPSS2):c.49A>G (p.Asn17Asp)	PAPSS2 (N17D)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2050357	NM_001015880.2(PAPSS2):c.783C>T (p.Ser261=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2048138	NM_001015880.2(PAPSS2):c.145+14AT[11]	PAPSS2	Microsatellite (intron variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GLikely benign
Select item 2046374	NM_001015880.2(PAPSS2):c.612C>T (p.His204=)	PAPSS2	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GBenign
Select item 2045503	NM_001015880.2(PAPSS2):c.1246C>T (p.Arg416Cys)	PAPSS2 (R411C +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance
Select item 2044520	NM_001015880.2(PAPSS2):c.940C>T (p.Arg314Trp)	PAPSS2 (R314W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2044427	NM_001015880.2(PAPSS2):c.1541T>C (p.Ile514Thr)	PAPSS2 (I514T +1 more)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia, PAPSS2 type	GUncertain significance

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