1801[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	LOC130059962, LOC130059963 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	ABR, ABR-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	LOC130059867, LOC130059868 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	SERPINF2, SLC43A2 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	LOC130059912, LOC130059913 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 150607	GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3	DPH1, HIC1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149261	GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1	DPH1, HIC1 +94 more	Copy number loss	See cases	GPathogenic
Select item 808195	NM_001383.6(DPH1):c.-15A>G	DPH1 (M1V)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3065620	NM_001383.6(DPH1):c.-13G>A	DPH1 (M1I)	Single nucleotide variant (missense variant +3 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2350294	NM_001383.6(DPH1):c.-12C>T	DPH1 (R2C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304523	NM_001383.6(DPH1):c.-2T>A	DPH1 (V5E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 218949	NM_001383.6(DPH1):c.2T>A (p.Met1Lys)	DPH1 (M6K +1 more)	Single nucleotide variant (missense variant +3 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GPathogenic/Likely pathogenic
Select item 2321321	NM_001383.6(DPH1):c.10C>A (p.Leu4Met)	DPH1 (L9M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085464	NM_001383.6(DPH1):c.11T>C (p.Leu4Pro)	DPH1 (L4P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1029332	NM_001383.6(DPH1):c.34C>A (p.Gln12Lys)	DPH1 (Q12K +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 3273580	NM_001383.6(DPH1):c.35A>G (p.Gln12Arg)	DPH1 (Q17R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2441023	NM_001383.6(DPH1):c.65G>A (p.Arg22Gln)	DPH1 (R22Q +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GUncertain significance
Select item 759153	NM_001383.6(DPH1):c.66G>T (p.Arg22=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2511345	NM_001383.6(DPH1):c.74G>A (p.Arg25Gln)	DPH1 (R30Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1033423	NM_001383.6(DPH1):c.80G>A (p.Arg27His)	DPH1 (R27H +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 2398935	NM_001383.6(DPH1):c.82G>A (p.Val28Met)	DPH1 (V33M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 726667	NM_001383.6(DPH1):c.102T>G (p.Pro34=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2682284	NM_001383.6(DPH1):c.103G>T (p.Glu35Ter)	DPH1 (E35* +1 more)	Single nucleotide variant (nonsense +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GPathogenic
Select item 794077	NM_001383.6(DPH1):c.113A>C (p.Lys38Thr)	DPH1 (K43T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 3051893	NM_001383.6(DPH1):c.114G>A (p.Lys38=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related disorder	GLikely benign
Select item 2256825	NM_001383.6(DPH1):c.136A>G (p.Ile46Val)	DPH1 (I51V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2363993	NM_001383.6(DPH1):c.139C>T (p.Arg47Trp)	DPH1 (R52W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3085462	NM_001383.6(DPH1):c.140G>A (p.Arg47Gln)	DPH1 (R47Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2442231	NM_001383.6(DPH1):c.155A>G (p.Asn52Ser)	DPH1 (N52S +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 2228708	NM_001383.6(DPH1):c.199G>A (p.Ala67Thr)	DPH1 (A72T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 761521	NM_001383.6(DPH1):c.215-10C>T	DPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3085463	NM_001383.6(DPH1):c.228G>T (p.Met76Ile)	DPH1 (M76I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3085465	NM_001383.6(DPH1):c.268A>G (p.Ile90Val)	DPH1 (I90V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 664140	NM_001383.6(DPH1):c.274del (p.Glu92fs)	DPH1 (E97fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2230404	NM_001383.6(DPH1):c.279-5C>T	DPH1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2591905	NM_001383.6(DPH1):c.296T>G (p.Val99Gly)	DPH1 (V104G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2231425	NM_001383.6(DPH1):c.307G>A (p.Gly103Ser)	DPH1 (G103S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 997988	NM_001383.6(DPH1):c.320A>G (p.Tyr107Cys)	DPH1 (Y112C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2582411	NM_001383.6(DPH1):c.322G>A (p.Gly108Arg)	DPH1 (G108R +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 3085466	NM_001383.6(DPH1):c.355G>A (p.Ala119Thr)	DPH1 (A119T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 521028	NM_001383.6(DPH1):c.359T>C (p.Leu120Pro)	DPH1 (L125P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 735032	NM_001383.6(DPH1):c.375G>T (p.Leu125Phe)	DPH1 (L130F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1012313	NM_001383.6(DPH1):c.382T>C (p.Tyr128His)	DPH1 (Y128H +1 more)	Single nucleotide variant (missense variant +2 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GLikely pathogenic
Select item 3058749	NM_001383.6(DPH1):c.384C>T (p.Tyr128=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related disorder	GLikely benign
Select item 2501780	NM_001383.6(DPH1):c.400+5G>T	DPH1	Single nucleotide variant (intron variant)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GUncertain significance
Select item 1185543	NM_001383.6(DPH1):c.400+117G>A	DPH1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3273579	NM_001383.6(DPH1):c.407T>C (p.Met136Thr)	DPH1 (M141T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2458584	NM_001383.6(DPH1):c.416C>T (p.Ser139Leu)	DPH1 (S144L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398308	NM_001383.6(DPH1):c.430C>T (p.Arg144Trp)	DPH1 (R9W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579545	NM_001383.6(DPH1):c.437T>C (p.Leu146Pro)	DPH1 (L11P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3085467	NM_001383.6(DPH1):c.442G>A (p.Val148Ile)	DPH1 (V148I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1012314	NM_001383.6(DPH1):c.457del (p.Arg153fs)	DPH1 (R153fs +2 more)	Deletion (frameshift variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GLikely pathogenic
Select item 3085468	NM_001383.6(DPH1):c.457C>T (p.Arg153Trp)	DPH1 (R153W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 445317	NM_001383.6(DPH1):c.470C>T (p.Thr157Ile)	DPH1 (T162I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 997985	NM_001383.6(DPH1):c.476T>C (p.Leu159Pro)	DPH1 (L164P +2 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GPathogenic
Select item 2488234	NM_001383.6(DPH1):c.520G>A (p.Ala174Thr)	DPH1 (A179T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3056642	NM_001383.6(DPH1):c.549G>A (p.Ser183=)	DPH1	Single nucleotide variant (synonymous variant +2 more)	DPH1-related disorder	GBenign
Select item 2236712	NM_001383.6(DPH1):c.558+4G>C	DPH1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 719086	NM_001383.6(DPH1):c.559-4A>G	DPH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740500	NM_001383.6(DPH1):c.561A>G (p.Ala187=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 740425	NM_001383.6(DPH1):c.582C>T (p.Ala194=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3085469	NM_001383.6(DPH1):c.589C>T (p.Arg197Cys)	DPH1 (R202C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 817488	NM_001383.6(DPH1):c.607dup (p.Cys203fs)	DPH1 (C203fs +3 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3273586	NM_001383.6(DPH1):c.622C>T (p.Pro208Ser)	DPH1 (P73S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1324291	NM_001383.6(DPH1):c.652C>T (p.Arg218Ter)	DPH1 (R212* +3 more)	Single nucleotide variant (nonsense +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1	GLikely pathogenic
Select item 2561061	NM_001383.6(DPH1):c.653G>A (p.Arg218Gln)	DPH1 (R212Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546813	NM_001383.6(DPH1):c.673G>A (p.Ala225Thr)	DPH1 (A219T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 788904	NM_001383.6(DPH1):c.675C>T (p.Ala225=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 183359	NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)	DPH1 (L234P +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 +1 more	GPathogenic/Likely pathogenic
Select item 3273581	NM_001383.6(DPH1):c.698G>A (p.Arg233His)	DPH1 (R238H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335552	NM_001383.6(DPH1):c.700T>C (p.Phe234Leu)	DPH1 (F239L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233395	NM_001383.6(DPH1):c.701T>C (p.Phe234Ser)	DPH1 (F228S +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 1033422	NM_001383.6(DPH1):c.721A>T (p.Ile241Phe)	DPH1 (I241F +3 more)	Single nucleotide variant (missense variant +1 more)	Developmental delay with short stature, dysmorphic facial features, and sparse hair	GUncertain significance
Select item 788744	NM_001383.6(DPH1):c.726C>T (p.Ala242=)	DPH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 791430	NM_001383.6(DPH1):c.731C>G (p.Pro244Arg)	DPH1 (P238R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3273583	NM_001383.6(DPH1):c.736G>A (p.Val246Ile)	DPH1 (V246I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3085471	NM_001383.6(DPH1):c.742G>A (p.Ala248Thr)	DPH1 (A242T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 392649	NM_001383.6(DPH1):c.748C>T (p.Arg250Trp)	DPH1 (R255W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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