OGDHL[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
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 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
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 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	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 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 719468	NM_018245.3(OGDHL):c.2931G>A (p.Ala977=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3342891	NM_018245.3(OGDHL):c.2920C>T (p.Arg974Trp)	OGDHL (R575W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3369085	NM_018245.3(OGDHL):c.2855A>T (p.Tyr952Phe)	OGDHL (Y553F +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 3340804	NM_018245.3(OGDHL):c.2740A>G (p.Thr914Ala)	OGDHL (T515A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 710350	NM_018245.3(OGDHL):c.2667C>T (p.Phe889=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3056267	NM_018245.3(OGDHL):c.2628C>T (p.Ala876=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	OGDHL-related disorder	GBenign
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 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 1334177	NM_018245.3(OGDHL):c.2554C>G (p.Pro852Ala)	OGDHL (P453A +4 more)	Single nucleotide variant (missense variant)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
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 3040480	NM_018245.3(OGDHL):c.2532A>C (p.Thr844=)	OGDHL	Single nucleotide variant (synonymous variant)	OGDHL-related disorder	GLikely benign
Select item 3302203	NM_018245.3(OGDHL):c.2381A>G (p.Asp794Gly)	OGDHL (D525G +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 402144	NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu)	OGDHL (S721L +5 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 2465218	NM_018245.3(OGDHL):c.2321G>A (p.Gly774Asp)	OGDHL (G565D +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3302204	NM_018245.3(OGDHL):c.2318T>C (p.Met773Thr)	OGDHL (M713T +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 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 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 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 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 3342543	NM_018245.3(OGDHL):c.2211C>A (p.Phe737Leu)	OGDHL (F338L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 225031	NM_018245.3(OGDHL):c.2201T>C (p.Phe734Ser)	OGDHL (F734S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
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 1292053	NM_018245.3(OGDHL):c.2174A>T (p.Asn725Ile)	OGDHL (N326I +5 more)	Single nucleotide variant (missense variant +1 more)	Depression	GAffects
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 3369086	NM_018245.3(OGDHL):c.2123C>T (p.Ser708Leu)	OGDHL (S309L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572542	NM_018245.3(OGDHL):c.2050C>T (p.Arg684Cys)	OGDHL (R285C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1334178	NM_018245.3(OGDHL):c.2018G>A (p.Arg673Gln)	OGDHL (R274Q +4 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
Select item 771740	NM_018245.3(OGDHL):c.1995G>A (p.Val665=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
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 768364	NM_018245.3(OGDHL):c.1983C>T (p.Ser661=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 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 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 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 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 722657	NM_018245.3(OGDHL):c.1868C>G (p.Ser623Cys)	OGDHL (S224C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 774681	NM_018245.3(OGDHL):c.1861+7T>C	OGDHL	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
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 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 730706	NM_018245.3(OGDHL):c.1813G>T (p.Gly605Cys)	OGDHL (G206C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 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 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 3302205	NM_018245.3(OGDHL):c.1595T>C (p.Ile532Thr)	OGDHL (I263T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3302202	NM_018245.3(OGDHL):c.1561G>A (p.Val521Met)	OGDHL (V464M +5 more)	Single nucleotide variant (missense variant +1 more)	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 3340506	NM_018245.3(OGDHL):c.1552C>T (p.His518Tyr)	OGDHL (H119Y +5 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	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 1300461	NM_018245.3(OGDHL):c.1476+14C>T	OGDHL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1334179	NM_018245.3(OGDHL):c.1464T>C (p.Val488=)	OGDHL	Single nucleotide variant (synonymous variant +2 more)	Yoon-Bellen neurodevelopmental syndrome	GPathogenic
Select item 3342542	NM_018245.3(OGDHL):c.1358G>A (p.Arg453Gln)	OGDHL (R244Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 3047411	NM_018245.3(OGDHL):c.1297-4G>A	OGDHL	Single nucleotide variant (intron variant)	OGDHL-related disorder	GLikely benign
Select item 3302206	NM_018245.3(OGDHL):c.1279G>A (p.Val427Ile)	OGDHL (V370I +3 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 3340507	NM_018245.3(OGDHL):c.1262C>A (p.Thr421Asn)	OGDHL (T212N +3 more)	Single nucleotide variant (missense variant +1 more)	Yoon-Bellen neurodevelopmental syndrome	GUncertain significance
Select item 3250863	NM_018245.3(OGDHL):c.1259C>T (p.Thr420Met)	OGDHL (T211M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 784159	NM_018245.3(OGDHL):c.1242C>T (p.Ser414=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 738260	NM_018245.3(OGDHL):c.1224T>C (p.Tyr408=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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 787075	NM_018245.3(OGDHL):c.1090C>T (p.Leu364=)	OGDHL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 3049152	NM_018245.3(OGDHL):c.1057A>C (p.Ile353Leu)	OGDHL (I144L +3 more)	Single nucleotide variant (missense variant +1 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 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

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