ClinVar for Gene (Select 55753) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 185

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 3204106	NM_018245.3(OGDHL):c.856G>A (p.Glu286Lys)	OGDHL (E229K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3204105	NM_018245.3(OGDHL):c.808T>C (p.Cys270Arg)	OGDHL (C213R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3204104	NM_018245.3(OGDHL):c.533C>T (p.Thr178Ile)	OGDHL (T178I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3204103	NM_018245.3(OGDHL):c.483C>G (p.Phe161Leu)	OGDHL (F161L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3204102	NM_018245.3(OGDHL):c.445C>T (p.Pro149Ser)	OGDHL (P92S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3204101	NM_018245.3(OGDHL):c.2984T>G (p.Phe995Cys)	OGDHL (F786C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204100	NM_018245.3(OGDHL):c.2272C>T (p.Arg758Trp)	OGDHL (R489W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204099	NM_018245.3(OGDHL):c.1842G>C (p.Glu614Asp)	OGDHL (E215D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204098	NM_018245.3(OGDHL):c.167A>G (p.Tyr56Cys)	OGDHL (Y56C)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3204097	NM_018245.3(OGDHL):c.1513G>A (p.Glu505Lys)	OGDHL (E445K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3204096	NM_018245.3(OGDHL):c.124A>G (p.Ser42Gly)	OGDHL (S42G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3204095	NM_018245.3(OGDHL):c.1072G>A (p.Val358Ile)	OGDHL (V19I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3069123	NM_018245.3(OGDHL):c.127A>G (p.Ser43Gly)	OGDHL (S43G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3068109	NM_018245.3(OGDHL):c.1733G>C (p.Gly578Ala)	OGDHL (G179A +5 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GUncertain significance
Select item 3067890	NM_018245.3(OGDHL):c.1984G>A (p.Gly662Arg)	OGDHL (G263R +5 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GUncertain significance
Select item 3065905	NM_018245.3(OGDHL):c.1862-2A>G	OGDHL	Single nucleotide variant (splice acceptor variant)	Yoon-Bellen neurodevelopmental syndrome	GLikely pathogenic
Select item 3060595	NM_018245.3(OGDHL):c.1910C>T (p.Thr637Met)	OGDHL (T238M +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 3059593	NM_018245.3(OGDHL):c.564C>T (p.Leu188=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GBenign
Select item 3056267	NM_018245.3(OGDHL):c.2628C>T (p.Ala876=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GBenign
Select item 3051431	NM_018245.3(OGDHL):c.2640C>T (p.Ala880=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3051044	NM_018245.3(OGDHL):c.1194C>T (p.Asp398=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3050206	NM_018245.3(OGDHL):c.111G>A (p.Pro37=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3049211	NM_018245.3(OGDHL):c.672G>A (p.Lys224=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GLikely benign
Select item 3049152	NM_018245.3(OGDHL):c.1057A>C (p.Ile353Leu)	OGDHL (I144L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3048533	NM_018245.3(OGDHL):c.1889C>T (p.Ala630Val)	OGDHL (A231V +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 3048101	NM_018245.3(OGDHL):c.2742G>A (p.Thr914=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3047411	NM_018245.3(OGDHL):c.1297-4G>A	OGDHL	Single nucleotide variant (intron variant)	OGDHL-related disorder	GLikely benign
Select item 3043968	NM_018245.3(OGDHL):c.2818G>A (p.Ala940Thr)	OGDHL (A541T +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GBenign
Select item 3042082	NM_018245.3(OGDHL):c.192G>A (p.Gln64=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3041207	NM_018245.3(OGDHL):c.2629G>T (p.Ala877Ser)	OGDHL (A478S +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GLikely benign
Select item 3040480	NM_018245.3(OGDHL):c.2532A>C (p.Thr844=)	OGDHL	Single nucleotide variant (synonymous variant)	OGDHL-related disorder	GLikely benign
Select item 3039405	NM_018245.3(OGDHL):c.54C>T (p.Leu18=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GBenign
Select item 3039370	NM_018245.3(OGDHL):c.129C>T (p.Ser43=)	OGDHL	Single nucleotide variant (synonymous variant +3 more)	OGDHL-related disorder	GLikely benign
Select item 3033620	NM_018245.3(OGDHL):c.492T>G (p.Leu164=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	OGDHL-related disorder	GLikely benign
Select item 2685374	GRCh37/hg19 10q11.23(chr10:50795114-51134640)x1	C10orf53, CHAT +3 more	Copy number loss	not provided	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	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 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	AGAP6, ARHGAP22 +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2640463	NM_018245.3(OGDHL):c.103G>A (p.Gly35Arg)	OGDHL (G35R)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2640462	NM_018245.3(OGDHL):c.314C>A (p.Thr105Asn)	OGDHL (T105N)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2636912	NM_018245.3(OGDHL):c.2894G>A (p.Arg965His)	OGDHL (R566H +5 more)	Single nucleotide variant (missense variant +1 more)	OGDHL-related disorder	GUncertain significance
Select item 2623476	NM_018245.3(OGDHL):c.1343C>T (p.Pro448Leu)	OGDHL (P448L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2620163	NM_018245.3(OGDHL):c.548G>A (p.Gly183Asp)	OGDHL (G126D +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2608963	NM_018245.3(OGDHL):c.934G>C (p.Asp312His)	OGDHL (D103H +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2572542	NM_018245.3(OGDHL):c.2050C>T (p.Arg684Cys)	OGDHL (R285C +5 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GUncertain significance
Select item 2558530	NM_018245.3(OGDHL):c.119T>C (p.Phe40Ser)	OGDHL (F40S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2551051	NM_018245.3(OGDHL):c.1618C>A (p.Gln540Lys)	OGDHL (Q271K +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544470	NM_018245.3(OGDHL):c.1720T>C (p.Ser574Pro)	OGDHL (S175P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525050	NM_018245.3(OGDHL):c.250G>A (p.Gly84Ser)	OGDHL (G84S)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2509859	NM_018245.3(OGDHL):c.910G>T (p.Val304Leu)	OGDHL (V247L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508759	NM_018245.3(OGDHL):c.823C>T (p.Pro275Ser)	OGDHL (P275S +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2508758	NM_018245.3(OGDHL):c.1915G>A (p.Asp639Asn)	OGDHL (D430N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2503805	NM_018245.3(OGDHL):c.2140+1G>A	OGDHL	Single nucleotide variant (splice donor variant)	Yoon-Bellen neurodevelopmental syndrome	GLikely pathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 2479732	NM_018245.3(OGDHL):c.571C>T (p.Arg191Trp)	OGDHL (R134W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474411	NM_018245.3(OGDHL):c.1016G>T (p.Gly339Val)	OGDHL (G282V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2465218	NM_018245.3(OGDHL):c.2321G>A (p.Gly774Asp)	OGDHL (G565D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457390	NM_018245.3(OGDHL):c.542T>C (p.Ile181Thr)	OGDHL (I124T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2399440	NM_018245.3(OGDHL):c.2219C>T (p.Thr740Met)	OGDHL (T680M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398409	NM_018245.3(OGDHL):c.1265A>G (p.Asn422Ser)	OGDHL (N83S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397353	NM_018245.3(OGDHL):c.2968G>C (p.Val990Leu)	OGDHL (V781L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397352	NM_018245.3(OGDHL):c.2182G>A (p.Val728Ile)	OGDHL (V329I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383696	NM_018245.3(OGDHL):c.1117G>C (p.Gly373Arg)	OGDHL (G164R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379469	NM_018245.3(OGDHL):c.2606G>A (p.Arg869Gln)	OGDHL (R470Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374752	NM_018245.3(OGDHL):c.1885C>T (p.Arg629Cys)	OGDHL (R360C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2372696	NM_018245.3(OGDHL):c.110C>T (p.Pro37Leu)	OGDHL (P37L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2328340	NM_018245.3(OGDHL):c.2296C>A (p.Leu766Met)	OGDHL (L367M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320678	NM_018245.3(OGDHL):c.778T>C (p.Ser260Pro)	OGDHL (S260P +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2309483	NM_018245.3(OGDHL):c.1906C>T (p.Arg636Trp)	OGDHL (R367W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296222	NM_018245.3(OGDHL):c.2300C>T (p.Pro767Leu)	OGDHL (P558L +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295165	NM_018245.3(OGDHL):c.2627C>T (p.Ala876Val)	OGDHL (A477V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289401	NM_018245.3(OGDHL):c.415A>C (p.Ile139Leu)	OGDHL (I82L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275326	NM_018245.3(OGDHL):c.2536A>G (p.Lys846Glu)	OGDHL (K447E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260908	NM_018245.3(OGDHL):c.1559A>G (p.Gln520Arg)	OGDHL (Q251R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2253118	NM_018245.3(OGDHL):c.379C>T (p.Arg127Trp)	OGDHL (R127W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2239544	NM_018245.3(OGDHL):c.1907G>A (p.Arg636Gln)	OGDHL (R237Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228111	NM_018245.3(OGDHL):c.583C>T (p.Arg195Trp)	OGDHL (R138W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222944	NM_018245.3(OGDHL):c.910G>A (p.Val304Met)	OGDHL (V247M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2216993	NM_018245.3(OGDHL):c.1810A>G (p.Ile604Val)	OGDHL (I205V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2212227	NM_018245.3(OGDHL):c.29G>T (p.Arg10Leu)	OGDHL (R10L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2210147	NM_018245.3(OGDHL):c.2810C>T (p.Ala937Val)	OGDHL (A668V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210106	NM_018245.3(OGDHL):c.672G>C (p.Lys224Asn)	OGDHL (K15N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209128	NM_018245.3(OGDHL):c.1817G>A (p.Ser606Asn)	OGDHL (S207N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203835	NM_018245.3(OGDHL):c.2273G>A (p.Arg758Gln)	OGDHL (R359Q +5 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome +1 more	GUncertain significance
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	AGAP6, ANXA8 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1409018	NC_000010.10:g.(?_50666861)_(51549496_?)dup	PGBD3, SLC18A3 +5 more	Duplication	not provided	GUncertain significance
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1334181	NM_018245.3(OGDHL):c.895A>G (p.Arg299Gly)	OGDHL (R242G +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Yoon-Bellen neurodevelopmental syndrome	GLikely pathogenic

<< First< Prev

Page of 2