25189[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 3254692	NM_138775.3(ALKBH8):c.1968C>G (p.Asn656Lys)	ALKBH8 (N606K +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 1712708	NM_138775.3(ALKBH8):c.1966A>C (p.Asn656His)	ALKBH8 (N606H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313759	NM_138775.3(ALKBH8):c.1960C>T (p.Gln654Ter)	ALKBH8 (Q604* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3038293	NM_138775.3(ALKBH8):c.1957G>T (p.Asp653Tyr)	ALKBH8 (D603Y +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder	GBenign
Select item 3043165	NM_138775.3(ALKBH8):c.1892G>A (p.Arg631His)	ALKBH8 (R581H +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3064082	NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)	ALKBH8 (R575H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 2458792	NM_138775.3(ALKBH8):c.1859G>T (p.Ser620Ile)	ALKBH8 (S620I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3043881	NM_138775.3(ALKBH8):c.1834G>T (p.Gly612Cys)	ALKBH8 (G562C +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder	GBenign
Select item 721730	NM_138775.3(ALKBH8):c.1820C>G (p.Pro607Arg)	ALKBH8 (P607R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign/Likely benign
Select item 636272	NM_138775.3(ALKBH8):c.1785del (p.Trp596fs)	ALKBH8 (W596fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic
Select item 3044489	NM_138775.3(ALKBH8):c.1712G>A (p.Arg571Lys)	ALKBH8 (R521K +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder	GBenign
Select item 2525073	NM_138775.3(ALKBH8):c.1709C>T (p.Ser570Leu)	ALKBH8 (S520L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498532	NM_138775.3(ALKBH8):c.1700G>A (p.Gly567Glu)	ALKBH8 (G517E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2458791	NM_138775.3(ALKBH8):c.1693G>A (p.Glu565Lys)	ALKBH8 (E565K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3049190	NM_138775.3(ALKBH8):c.1676G>A (p.Arg559His)	ALKBH8 (R509H +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder	GLikely benign
Select item 1710313	NM_138775.3(ALKBH8):c.1675del (p.Arg559fs)	ALKBH8 (R509fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic
Select item 636271	NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)	ALKBH8 (R551* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2482667	NM_138775.3(ALKBH8):c.1646G>A (p.Gly549Asp)	ALKBH8 (G499D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112025	NM_138775.3(ALKBH8):c.1597A>G (p.Ser533Gly)	ALKBH8 (S483G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642350	NM_138775.3(ALKBH8):c.1590G>A (p.Glu530=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2215634	NM_138775.3(ALKBH8):c.1552C>T (p.Leu518Phe)	ALKBH8 (L518F +1 more)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1098651	NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)	ALKBH8 (R431H +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71 +2 more	GUncertain significance
Select item 2672483	NM_138775.3(ALKBH8):c.1432A>G (p.Thr478Ala)	ALKBH8 (T478A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 1320146	NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)	ALKBH8	Deletion (inframe_indel +2 more)	Intellectual developmental disorder, autosomal recessive 71	GLikely pathogenic
Select item 3286982	NM_138775.3(ALKBH8):c.1424A>G (p.His475Arg)	ALKBH8 (H475R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1711325	NM_138775.3(ALKBH8):c.1420C>A (p.His474Asn)	ALKBH8 (H474N)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 732297	NM_138775.3(ALKBH8):c.1400G>C (p.Cys467Ser)	ALKBH8 (C467S)	Single nucleotide variant (missense variant +2 more)	ALKBH8-related disorder +1 more	GBenign
Select item 2627594	NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)	ALKBH8 (V457fs)	Indel (frameshift variant +2 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 2332978	NM_138775.3(ALKBH8):c.1379G>A (p.Arg460His)	ALKBH8 (R460H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1188965	NM_138775.3(ALKBH8):c.1288-3C>T	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 3054910	NM_138775.3(ALKBH8):c.1288-10T>C	ALKBH8	Single nucleotide variant (intron variant)	ALKBH8-related disorder	GLikely benign
Select item 2208964	NM_138775.3(ALKBH8):c.1216A>G (p.Ser406Gly)	ALKBH8 (S406G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065394	NM_138775.3(ALKBH8):c.1182G>A (p.Trp394Ter)	ALKBH8 (W394*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 71	GLikely pathogenic
Select item 3286965	NM_138775.3(ALKBH8):c.1123G>A (p.Val375Ile)	ALKBH8 (V375I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286975	NM_138775.3(ALKBH8):c.1121A>T (p.Tyr374Phe)	ALKBH8 (Y374F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112012	NM_138775.3(ALKBH8):c.1121A>G (p.Tyr374Cys)	ALKBH8 (Y374C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1325552	NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)	ALKBH8 (R369W)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 2330904	NM_138775.3(ALKBH8):c.1100C>A (p.Ala367Asp)	ALKBH8 (A367D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2291419	NM_138775.3(ALKBH8):c.1078T>C (p.Phe360Leu)	ALKBH8 (F360L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1188966	NM_138775.3(ALKBH8):c.1030+9A>G	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 2642351	NM_138775.3(ALKBH8):c.1025A>G (p.Asn342Ser)	ALKBH8 (N342S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2288660	NM_138775.3(ALKBH8):c.997T>C (p.Phe333Leu)	ALKBH8 (F333L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112107	NM_138775.3(ALKBH8):c.994A>G (p.Thr332Ala)	ALKBH8 (T332A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2442179	NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)	ALKBH8 (R328*)	Single nucleotide variant (nonsense +1 more)	Intellectual developmental disorder, autosomal recessive 71	GPathogenic/Likely pathogenic
Select item 1012995	NM_138775.3(ALKBH8):c.960_964del (p.Leu320fs)	ALKBH8 (L320fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2405182	NM_138775.3(ALKBH8):c.937A>G (p.Ile313Val)	ALKBH8 (I313V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574515	NM_138775.3(ALKBH8):c.899A>G (p.Asp300Gly)	ALKBH8 (D300G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3052639	NM_138775.3(ALKBH8):c.886T>G (p.Cys296Gly)	ALKBH8 (C296G)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder	GBenign
Select item 1188967	NM_138775.3(ALKBH8):c.878+31T>A	ALKBH8	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 71	GBenign
Select item 3338556	NM_138775.3(ALKBH8):c.878+3A>G	ALKBH8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2215279	NM_138775.3(ALKBH8):c.875A>G (p.His292Arg)	ALKBH8 (H292R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495205	NM_138775.3(ALKBH8):c.865C>T (p.Leu289Phe)	ALKBH8 (L289F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527866	NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)	ALKBH8 (M282L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal recessive 71	GUncertain significance
Select item 1703941	NM_138775.3(ALKBH8):c.830G>A (p.Arg277Gln)	ALKBH8 (R277Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2521555	NM_138775.3(ALKBH8):c.829C>T (p.Arg277Trp)	ALKBH8 (R277W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3112087	NM_138775.3(ALKBH8):c.827G>T (p.Arg276Leu)	ALKBH8 (R276L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354829	NM_138775.3(ALKBH8):c.819G>A (p.Met273Ile)	ALKBH8 (M273I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1675471	NM_138775.3(ALKBH8):c.804T>C (p.Ile268=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1188921	NM_138775.3(ALKBH8):c.772-72_772-71del	ALKBH8	Microsatellite (intron variant)	Intellectual developmental disorder, autosomal recessive 71	GBenign
Select item 1675472	NM_138775.3(ALKBH8):c.769G>C (p.Glu257Gln)	ALKBH8 (E257Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2642352	NM_138775.3(ALKBH8):c.729C>T (p.Ser243=)	ALKBH8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312962	NM_138775.3(ALKBH8):c.722C>T (p.Thr241Ile)	ALKBH8 (T241I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1188922	NM_138775.3(ALKBH8):c.720T>C (p.Asp240=)	ALKBH8	Single nucleotide variant (synonymous variant)	Intellectual developmental disorder, autosomal recessive 71 +1 more	GBenign
Select item 3112080	NM_138775.3(ALKBH8):c.706C>G (p.Pro236Ala)	ALKBH8 (P236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287003	NM_138775.3(ALKBH8):c.649A>G (p.Ile217Val)	ALKBH8 (I217V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456743	NM_138775.3(ALKBH8):c.617G>T (p.Ser206Ile)	ALKBH8 (S206I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502787	NM_138775.3(ALKBH8):c.604G>A (p.Asp202Asn)	ALKBH8 (D202N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3286992	NM_138775.3(ALKBH8):c.502C>G (p.Gln168Glu)	ALKBH8 (Q168E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224061	NM_138775.3(ALKBH8):c.497A>C (p.Asn166Thr)	ALKBH8 (N166T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112070	NM_138775.3(ALKBH8):c.467T>G (p.Val156Gly)	ALKBH8 (V156G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642353	NM_138775.3(ALKBH8):c.459G>A (p.Leu153=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2542043	NM_138775.3(ALKBH8):c.443A>G (p.Glu148Gly)	ALKBH8 (E148G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2626947	NM_138775.3(ALKBH8):c.437C>T (p.Ser146Phe)	ALKBH8 (S146F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3038278	NM_138775.3(ALKBH8):c.368-5C>T	ALKBH8	Single nucleotide variant (intron variant)	ALKBH8-related disorder	GBenign
Select item 1690482	NM_138775.3(ALKBH8):c.367+1G>T	ALKBH8	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 2498533	NM_138775.3(ALKBH8):c.345G>C (p.Leu115=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2270359	NM_138775.3(ALKBH8):c.337A>T (p.Ile113Phe)	ALKBH8 (I113F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1298526	NM_138775.3(ALKBH8):c.318G>A (p.Val106=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239032	NM_138775.3(ALKBH8):c.316G>A (p.Val106Met)	ALKBH8 (V106M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2530465	NM_138775.3(ALKBH8):c.313G>C (p.Val105Leu)	ALKBH8 (V105L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289566	NM_138775.3(ALKBH8):c.312A>T (p.Glu104Asp)	ALKBH8 (E104D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203783	NM_138775.3(ALKBH8):c.259T>C (p.Tyr87His)	ALKBH8 (Y87H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3037523	NM_138775.3(ALKBH8):c.243G>C (p.Pro81=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	ALKBH8-related disorder	GBenign
Select item 3112050	NM_138775.3(ALKBH8):c.242C>T (p.Pro81Leu)	ALKBH8 (P81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642354	NM_138775.3(ALKBH8):c.219T>G (p.Ala73=)	ALKBH8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2390146	NM_138775.3(ALKBH8):c.215A>G (p.Asp72Gly)	ALKBH8 (D72G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240642	NM_138775.3(ALKBH8):c.212T>A (p.Val71Glu)	ALKBH8 (V71E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574520	NM_138775.3(ALKBH8):c.170G>A (p.Ser57Asn)	ALKBH8 (S57N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2307767	NM_138775.3(ALKBH8):c.164G>A (p.Gly55Asp)	ALKBH8 (G55D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025512	NM_138775.3(ALKBH8):c.146A>G (p.Asn49Ser)	ALKBH8 (N49S)	Single nucleotide variant (missense variant +1 more)	ALKBH8-related disorder +1 more	GBenign
Select item 2459456	NM_138775.3(ALKBH8):c.132C>G (p.Ser44Arg)	ALKBH8 (S44R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3112003	NM_138775.3(ALKBH8):c.106G>A (p.Glu36Lys)	ALKBH8 (E36K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397479	NM_138775.3(ALKBH8):c.103A>G (p.Ile35Val)	ALKBH8 (I35V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112060	NM_138775.3(ALKBH8):c.31C>T (p.Leu11Phe)	ALKBH8 (L11F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287014	NM_138775.3(ALKBH8):c.26A>G (p.Tyr9Cys)	ALKBH8 (Y9C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3041402	NM_138775.3(ALKBH8):c.-6-5dup	ALKBH8	Duplication (intron variant)	ALKBH8-related disorder	GLikely benign
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic

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