ClinVar for Gene (Select 50814) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301144	NM_015922.3(NSDHL):c.977C>A (p.Pro326His)	NSDHL (P326H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3301142	NM_015922.3(NSDHL):c.19G>A (p.Glu7Lys)	NSDHL (E7K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3202343	NM_015922.3(NSDHL):c.964C>G (p.Pro322Ala)	NSDHL (P322A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3202342	NM_015922.3(NSDHL):c.119G>A (p.Cys40Tyr)	NSDHL (C40Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3068656	NM_015922.3(NSDHL):c.414+2T>C	NSDHL	Single nucleotide variant (splice donor variant)	Child syndrome	GUncertain significance
Select item 3063961	NM_015922.3(NSDHL):c.891C>T (p.Tyr297=)	NSDHL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3062516	GRCh37/hg19 Xq28(chrX:152024734-152038934)	NSDHL	Copy number gain	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062489	GRCh37/hg19 Xq28(chrX:151869764-152155626)	CETN2, CSAG1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3044975	NM_015922.3(NSDHL):c.6A>G (p.Glu2=)	NSDHL	Single nucleotide variant (synonymous variant)	NSDHL-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	FRMPD3, FTX +488 more	Copy number gain	not provided	GPathogenic
Select item 3024366	GRCh38/hg38 Xq28(chrX:152819425-152869723)	CETN2, LOC126863347 +2 more	Copy number gain	Autism spectrum disorder	GLikely pathogenic
Select item 2990534	NM_015922.3(NSDHL):c.16A>T (p.Ser6Cys)	NSDHL (S6C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968537	NM_015922.3(NSDHL):c.268-13T>G	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962126	NM_015922.3(NSDHL):c.544-12A>G	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916439	NM_015922.3(NSDHL):c.109-18G>A	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916009	NM_015922.3(NSDHL):c.561C>T (p.Asn187=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2910363	NM_015922.3(NSDHL):c.460G>A (p.Asp154Asn)	NSDHL (D154N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2903765	NM_015922.3(NSDHL):c.1099C>T (p.Arg367Cys)	NSDHL (R367C)	Single nucleotide variant (missense variant)	NSDHL-related disorder +1 more	GBenign/Likely benign
Select item 2880987	NM_015922.3(NSDHL):c.640A>G (p.Ile214Val)	NSDHL (I214V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2874355	NM_015922.3(NSDHL):c.17G>A (p.Ser6Asn)	NSDHL (S6N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857553	NM_015922.3(NSDHL):c.645C>T (p.Leu215=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856361	NM_015922.3(NSDHL):c.113A>G (p.Lys38Arg)	NSDHL (K38R)	Single nucleotide variant (missense variant)	NSDHL-related disorder +1 more	GLikely benign
Select item 2851059	NM_015922.3(NSDHL):c.117A>T (p.Arg39Ser)	NSDHL (R39S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848232	NM_015922.3(NSDHL):c.648C>T (p.Ile216=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817171	NM_015922.3(NSDHL):c.226C>T (p.Pro76Ser)	NSDHL (P76S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2795390	NM_015922.3(NSDHL):c.543+6T>C	NSDHL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2751717	NM_015922.3(NSDHL):c.976C>G (p.Pro326Ala)	NSDHL (P326A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740709	NM_015922.3(NSDHL):c.235C>T (p.Arg79Trp)	NSDHL (R79W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2740104	NM_015922.3(NSDHL):c.375C>T (p.Thr125=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739091	NM_015922.3(NSDHL):c.315G>A (p.Ala105=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2732634	NM_015922.3(NSDHL):c.686+17C>T	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2728260	NM_015922.3(NSDHL):c.882C>T (p.His294=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2726878	NM_015922.3(NSDHL):c.233T>C (p.Val78Ala)	NSDHL (V78A)	Single nucleotide variant (missense variant)	NSDHL-related disorder +1 more	GBenign/Likely benign
Select item 2718626	NM_015922.3(NSDHL):c.230A>T (p.Gln77Leu)	NSDHL (Q77L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712138	NM_015922.3(NSDHL):c.315G>T (p.Ala105=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2687770	NM_015922.3(NSDHL):c.1010A>G (p.Tyr337Cys)	NSDHL (Y337C)	Single nucleotide variant (missense variant)	CK syndrome	GUncertain significance
Select item 2685771	GRCh37/hg19 Xq28(chrX:151894072-152228928)x2	CETN2, CSAG1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685024	GRCh37/hg19 Xq28(chrX:151935519-152329158)x3	CETN2, MAGEA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2661673	NM_015922.3(NSDHL):c.914T>G (p.Leu305Arg)	NSDHL (L305R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631217	NM_015922.3(NSDHL):c.802A>G (p.Thr268Ala)	NSDHL (T268A)	Single nucleotide variant (missense variant)	NSDHL-related disorder	GUncertain significance
Select item 2616807	NM_015922.3(NSDHL):c.1021G>A (p.Glu341Lys)	NSDHL (E341K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577480	NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)	NSDHL (G152D)	Single nucleotide variant (missense variant)	CK syndrome	Gnot provided
Select item 2577120	NC_000023.10:g.(?_151999510)_(152037908_?)dup	NSDHL	Duplication	not specified	GUncertain significance
Select item 2574424	NM_015922.3(NSDHL):c.981G>A (p.Met327Ile)	NSDHL (M327I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572966	NM_015922.3(NSDHL):c.214G>A (p.Gly72Arg)	NSDHL (G72R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2556698	NM_015922.3(NSDHL):c.907C>G (p.Leu303Val)	NSDHL (L303V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515548	NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)	NSDHL (I177V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2441794	NM_015922.3(NSDHL):c.387del (p.Ile129fs)	NSDHL (I129fs)	Deletion (frameshift variant)	Child syndrome +1 more	GLikely pathogenic
Select item 2434445	NM_015922.3(NSDHL):c.895G>A (p.Val299Met)	NSDHL (V299M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434444	NM_015922.3(NSDHL):c.1049A>G (p.Gln350Arg)	NSDHL (Q350R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429259	NM_015922.3(NSDHL):c.1037C>A (p.Ala346Asp)	NSDHL (A346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426246	NC_000023.10:g.(?_152014869)_(152031288_?)dup	NSDHL	Duplication	not provided	GUncertain significance
Select item 2426245	NC_000023.10:g.(?_152014869)_(152014996_?)dup	NSDHL	Duplication	not provided	GUncertain significance
Select item 2426244	NC_000023.10:g.(?_152014869)_(152037660_?)dup	NSDHL	Duplication	not provided	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422159	NC_000023.10:g.(?_152014869)_(153363122_?)dup	PNMA5, PNMA6A +31 more	Duplication	not provided	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	X-linked Emery-Dreifuss muscular dystrophy +8 more	GPathogenic
Select item 2415473	NM_015922.3(NSDHL):c.1053A>T (p.Pro351=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2404943	NM_015922.3(NSDHL):c.398A>G (p.Lys133Arg)	NSDHL (K133R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397844	NM_015922.3(NSDHL):c.40G>A (p.Ala14Thr)	NSDHL (A14T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2273458	NM_015922.3(NSDHL):c.679G>A (p.Val227Met)	NSDHL (V227M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2259425	NM_015922.3(NSDHL):c.207C>G (p.Ile69Met)	NSDHL (I69M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250771	NM_015922.3(NSDHL):c.766C>G (p.Arg256Gly)	NSDHL (R256G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2198827	NM_015922.3(NSDHL):c.367A>G (p.Ile123Val)	NSDHL (I123V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2197096	NM_015922.3(NSDHL):c.789+18G>A	NSDHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2195806	NM_015922.3(NSDHL):c.108+19C>T	NSDHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2176350	NM_015922.3(NSDHL):c.997G>A (p.Gly333Ser)	NSDHL (G333S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2172419	NM_015922.3(NSDHL):c.774G>A (p.Ser258=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2171622	NM_015922.3(NSDHL):c.855C>T (p.Gly285=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169728	NM_015922.3(NSDHL):c.887C>G (p.Pro296Arg)	NSDHL (P296R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2163073	NM_015922.3(NSDHL):c.337A>C (p.Asn113His)	NSDHL (N113H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2162588	NM_015922.3(NSDHL):c.626C>T (p.Pro209Leu)	NSDHL (P209L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147781	NM_015922.3(NSDHL):c.1087G>A (p.Val363Met)	NSDHL (V363M)	Single nucleotide variant (missense variant)	NSDHL-related disorder +1 more	GBenign/Likely benign
Select item 2146986	NM_015922.3(NSDHL):c.307C>T (p.His103Tyr)	NSDHL (H103Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144178	NM_015922.3(NSDHL):c.18C>G (p.Ser6Arg)	NSDHL (S6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2143635	NM_015922.3(NSDHL):c.562G>A (p.Asp188Asn)	NSDHL (D188N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2124642	NM_015922.3(NSDHL):c.109-15C>G	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095067	NM_015922.3(NSDHL):c.30A>G (p.Arg10=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089652	NM_015922.3(NSDHL):c.890A>G (p.Tyr297Cys)	NSDHL (Y297C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079257	NM_015922.3(NSDHL):c.236G>A (p.Arg79Gln)	NSDHL (R79Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2075424	NM_015922.3(NSDHL):c.83A>G (p.Asp28Gly)	NSDHL (D28G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2074040	NM_015922.3(NSDHL):c.235C>G (p.Arg79Gly)	NSDHL (R79G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061394	NM_015922.3(NSDHL):c.354T>C (p.Tyr118=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052304	NM_015922.3(NSDHL):c.842G>T (p.Arg281Leu)	NSDHL (R281L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2042737	NM_015922.3(NSDHL):c.726C>T (p.Asn242=)	NSDHL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2036039	NM_015922.3(NSDHL):c.749C>T (p.Ala250Val)	NSDHL (A250V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026762	NM_015922.3(NSDHL):c.544-3C>T	NSDHL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991987	NM_015922.3(NSDHL):c.767G>A (p.Arg256Gln)	NSDHL (R256Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974156	NM_015922.3(NSDHL):c.267+10C>G	NSDHL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970125	NM_015922.3(NSDHL):c.481G>A (p.Asp161Asn)	NSDHL (D161N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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