ClinVar for Gene (Select 412) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 507

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3342330	NM_001320752.2(STS):c.513T>G (p.Ser171Arg)	STS (S171R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337638	NM_001320752.2(STS):c.203C>T (p.Pro68Leu)	STS (P68L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3323442	NM_001320752.2(STS):c.964G>C (p.Asp322His)	STS (D322H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256558	NM_001320752.2(STS):c.382G>A (p.Gly128Arg)	STS (G128R +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GLikely pathogenic
Select item 3251159	NM_001320752.2(STS):c.985G>A (p.Asp329Asn)	STS (D329N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245789	NC_000023.10:g.(?_7137717)_(7252168_?)del	STS	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242318	GRCh37/hg19 Xp22.31(chrX:6450986-8136530)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3242304	GRCh37/hg19 Xp22.31(chrX:6451998-8136170)x1	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 3171687	NM_001320752.2(STS):c.436C>G (p.Pro146Ala)	STS (P158A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171686	NM_001320752.2(STS):c.1682C>T (p.Thr561Ile)	STS (T561I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171685	NM_001320752.2(STS):c.135C>G (p.Ile45Met)	STS (I57M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171684	NM_001320752.2(STS):c.1300C>T (p.His434Tyr)	STS (H434Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171683	NM_001320752.2(STS):c.1237G>A (p.Asp413Asn)	STS (D425N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171682	NM_001320752.2(STS):c.1231C>G (p.Pro411Ala)	STS (P423A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3149771	NM_012080.5(PUDP):c.22G>T (p.Val8Phe)	LOC130067915, PUDP +1 more (V8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148954	GRCh37/hg19 Xp22.31(chrX:6645873-8110204)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 3148945	GRCh37/hg19 Xp22.31(chrX:6455152-8135568)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GUncertain significance
Select item 3148931	GRCh37/hg19 Xp22.31(chrX:6440777-8127580)x3	PNPLA4, PUDP +3 more	Copy number gain	not provided	GUncertain significance
Select item 3148914	GRCh37/hg19 Xp22.31(chrX:6455151-8143319)x2	PNPLA4, PUDP +3 more	Copy number gain	See cases	GUncertain significance
Select item 3148904	GRCh37/hg19 Xp22.31(chrX:6455152-8141076)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GUncertain significance
Select item 3148902	GRCh37/hg19 Xp22.31(chrX:6455152-8135644)x0	PNPLA4, PUDP +2 more	Copy number loss	See cases	GUncertain significance
Select item 3148888	GRCh37/hg19 Xp22.31(chrX:6458941-8021639)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GUncertain significance
Select item 3148865	GRCh37/hg19 Xp22.31(chrX:6455151-8135644)x2	PNPLA4, PUDP +2 more	Copy number gain	See cases	GUncertain significance
Select item 3148853	GRCh37/hg19 Xp22.31(chrX:6449837-7539155)x2	PUDP, STS +1 more	Copy number gain	not provided	GUncertain significance
Select item 3148848	GRCh37/hg19 Xp22.31(chrX:6455152-8135568)x3	PNPLA4, PUDP +2 more	Copy number gain	See cases	GUncertain significance
Select item 3148845	GRCh37/hg19 Xp22.31(chrX:6140022-8599803)x3	ANOS1, VCX2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148841	GRCh37/hg19 Xp22.31(chrX:6455152-8135644)x3	PNPLA4, PUDP +2 more	Copy number gain	not provided	GUncertain significance
Select item 3067945	NM_001320752.2(STS):c.806G>A (p.Arg269Gln)	STS (R269Q +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062488	GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	ARSD, ARSD-AS1 +11 more	Copy number loss	not specified	GPathogenic
Select item 3062476	GRCh37/hg19 Xp22.31(chrX:6938911-7902806)	PNPLA4, PUDP +2 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3024648	GRCh37/hg19 Xp22.31(chrX:6515107-8123681)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 3024126	GRCh38/hg38 Xp22.31(chrX:6989414-7926139)x0	LOC130067916, LOC130067917 +17 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2911088	NM_001320752.2(STS):c.1455C>T (p.Phe485=)	STS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907133	NM_001320752.2(STS):c.943+5G>A	STS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2841149	NM_001320752.2(STS):c.746C>T (p.Pro249Leu)	STS (P249L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837602	NM_001320752.2(STS):c.1106G>C (p.Gly369Ala)	STS (G381A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825141	NM_001320752.2(STS):c.1189G>A (p.Asp397Asn)	STS (D397N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819306	NM_001320752.2(STS):c.635T>C (p.Phe212Ser)	STS (F224S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794634	NM_001320752.2(STS):c.413G>A (p.Ser138Asn)	STS (S150N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737074	NM_001320752.2(STS):c.1060G>A (p.Gly354Arg)	STS (G366R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2720982	NM_001320752.2(STS):c.232A>G (p.Met78Val)	STS (M90V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2712421	NM_001320752.2(STS):c.1059C>T (p.Gly353=)	STS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2710458	NM_001320752.2(STS):c.219C>G (p.Ser73Arg)	STS (S73R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685693	GRCh37/hg19 Xp22.31(chrX:6778999-8075687)x1	PUDP, PNPLA4 +2 more	Copy number loss	not provided	GPathogenic
Select item 2685692	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x1	PNPLA4, PUDP +8 more	Copy number loss	not provided	GPathogenic
Select item 2685691	GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x1	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2685221	GRCh37/hg19 Xp22.31(chrX:6658871-8110243)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2685110	GRCh37/hg19 Xp22.31(chrX:6591135-9498909)x0	ANOS1, FAM9A +8 more	Copy number loss	not provided	GPathogenic
Select item 2684396	GRCh37/hg19 Xp22.31(chrX:6568478-7898751)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2671626	Single allele	PNPLA4, PUDP +2 more	Deletion	not provided	GPathogenic
Select item 2661880	GRCh37/hg19 Xp22.31(chrX:6968337-7894160)x0	PNPLA4, PUDP +2 more	Copy number loss	not provided	GPathogenic
Select item 2659917	NM_001320752.2(STS):c.822G>A (p.Pro274=)	STS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659916	NM_001320752.2(STS):c.7A>T (p.Ile3Phe)	STS (I15F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2634838	NM_001320752.2(STS):c.1346G>A (p.Arg449His)	STS (R449H +1 more)	Single nucleotide variant (missense variant)	STS-related disorder	GLikely pathogenic
Select item 2622553	NM_001320752.2(STS):c.1359G>C (p.Gln453His)	STS (Q465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592672	NM_001320752.2(STS):c.464A>G (p.Tyr155Cys)	STS (Y155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579751	Single allele	LOC113875037, LOC130067909 +12 more	Deletion	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2559726	NM_001320752.2(STS):c.262A>G (p.Met88Val)	STS (M100V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545019	NM_001320752.2(STS):c.991C>G (p.Leu331Val)	STS (L331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530652	NM_001320752.2(STS):c.1550G>A (p.Arg517Gln)	STS (R529Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526695	NM_001320752.2(STS):c.1396C>G (p.Pro466Ala)	STS (P478A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524726	NM_001320752.2(STS):c.1094A>C (p.Asn365Thr)	STS (N365T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506547	GRCh37/hg19 Xp22.31(chrX:6968337-8434424)	PNPLA4, PUDP +4 more	Copy number loss	X-linked ichthyosis with steryl-sulfatase deficiency	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499159	GRCh37/hg19 Xp22.31(chrX:6451786-7894160)x0	PNPLA4, PUDP +3 more	Copy number loss	not provided	GPathogenic
Select item 2477476	NM_001320752.2(STS):c.148A>C (p.Ile50Leu)	STS (I62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2422955	NC_000023.10:g.(?_7223067)_(7268302_?)dup	STS	Duplication	not provided	GUncertain significance
Select item 2422954	NC_000023.10:g.(?_7137717)_(7268302_?)dup	STS	Duplication	not provided	GUncertain significance
Select item 2422953	NC_000023.10:g.(?_7171217)_(7177833_?)del	STS	Deletion	not provided	GLikely pathogenic
Select item 2383790	NM_001320752.2(STS):c.455A>G (p.Asn152Ser)	STS (N164S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356927	NM_001320752.2(STS):c.1115G>A (p.Arg372Gln)	STS (R372Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340316	NM_012080.5(PUDP):c.43A>G (p.Met15Val)	LOC130067915, PUDP +1 more (M15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2328868	NM_001320752.2(STS):c.322A>G (p.Thr108Ala)	STS (T108A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312824	NM_001320752.2(STS):c.596A>G (p.Asn199Ser)	STS (N211S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287467	NM_001320752.2(STS):c.1621G>A (p.Asp541Asn)	STS (D541N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2264018	NM_001320752.2(STS):c.1211A>T (p.Lys404Met)	STS (K404M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254713	NM_001320752.2(STS):c.1291C>T (p.Arg431Cys)	STS (R443C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223477	NM_001320752.2(STS):c.607C>A (p.Leu203Ile)	STS (L215I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218593	NM_001320752.2(STS):c.277C>T (p.Arg93Cys)	STS (R105C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217238	NM_001320752.2(STS):c.361G>A (p.Gly121Ser)	STS (G121S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198984	NM_001320752.2(STS):c.637A>G (p.Ser213Gly)	STS (S225G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2184587	NM_001320752.2(STS):c.1689G>A (p.Leu563=)	STS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155041	NM_001320752.2(STS):c.805C>T (p.Arg269Trp)	STS (R281W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2146196	NM_001320752.2(STS):c.207G>A (p.Leu69=)	STS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053734	NM_001320752.2(STS):c.1133G>A (p.Arg378His)	STS (R390H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1810494	NM_001320752.2(STS):c.170G>A (p.Gly57Glu)	STS (G69E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809291	GRCh37/hg19 Xp22.31(chrX:6647161-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1808747	GRCh37/hg19 Xp22.31(chrX:6991617-7784674)x2	PUDP, STS	Copy number gain	not provided	GUncertain significance
Select item 1808678	GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	AMELX, ANOS1 +42 more	Copy number gain	not provided	GPathogenic
Select item 1808630	GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	ANOS1, ARSD +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807900	GRCh37/hg19 Xp22.33-22.31(chrX:1626596-7832236)x3	ARSD, ARSD-AS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807764	GRCh37/hg19 Xp22.31(chrX:6658781-8760719)x1	ANOS1, FAM9A +6 more	Copy number loss	not provided	GPathogenic
Select item 1803158	NM_001320752.2(STS):c.1108G>T (p.Gly370Cys)	STS (G370C +1 more)	Single nucleotide variant (missense variant)	X-linked ichthyosis with steryl-sulfatase deficiency	GLikely pathogenic
Select item 1708462	GRCh37/hg19 Xp22.31(chrX:6677961-8144721)x3	PNPLA4, PUDP +3 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 6