ClinVar for Gene (Select 11043) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3338195	NM_012216.4(MID2):c.2003A>G (p.Tyr668Cys)	LOC101928335, MID2 (Y618C +3 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3294820	NM_012216.4(MID2):c.897G>T (p.Met299Ile)	LOC101928335, MID2 (M299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294818	NM_012216.4(MID2):c.1697G>A (p.Ser566Asn)	LOC101928335, MID2 (S546N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294817	NM_012216.4(MID2):c.1603C>T (p.Pro535Ser)	LOC101928335, MID2 (P535S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294816	NM_012216.4(MID2):c.834T>G (p.His278Gln)	LOC101928335, MID2 (H278Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294815	NM_012216.4(MID2):c.22G>A (p.Val8Met)	MID2 (V8M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3246496	NC_000023.10:g.(?_106456106)_(107464624_?)dup	ATG4A, COL4A6 +8 more	Duplication	not provided	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3126345	NM_012216.4(MID2):c.490C>T (p.Arg164Cys)	MID2 (R164C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126344	NM_012216.4(MID2):c.361C>T (p.Arg121Cys)	MID2 (R121C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126343	NM_012216.4(MID2):c.314G>C (p.Arg105Pro)	MID2 (R85P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126342	NM_012216.4(MID2):c.175G>A (p.Val59Ile)	MID2 (V39I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063975	NM_012216.4(MID2):c.1756A>G (p.Ile586Val)	LOC101928335, MID2 (I536V +3 more)	Single nucleotide variant (missense variant)	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 3061474	NM_012216.4(MID2):c.1296C>T (p.Ser432=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	MID2-related disorder	GLikely benign
Select item 3044191	NM_012216.4(MID2):c.1707A>G (p.Pro569=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	MID2-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2691674	NM_012216.4(MID2):c.1435+1G>A	LOC101928335, MID2	Single nucleotide variant (splice donor variant +1 more)	not specified	GUncertain significance
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2682330	NM_012216.4(MID2):c.2190G>A (p.Gly730=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2671901	NM_012216.4(MID2):c.1106T>C (p.Leu369Pro)	LOC101928335, MID2 (L349P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2661155	NM_012216.4(MID2):c.362G>A (p.Arg121His)	MID2 (R101H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2569397	NM_012216.4(MID2):c.1705C>T (p.Pro569Ser)	LOC101928335, MID2 (P519S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535695	NM_012216.4(MID2):c.848T>C (p.Met283Thr)	LOC101928335, MID2 (M263T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2442092	NM_012216.4(MID2):c.308T>G (p.Ile103Ser)	MID2 (I103S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2433749	NM_012216.4(MID2):c.1414A>G (p.Arg472Gly)	LOC101928335, MID2 (R452G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2431776	NM_012216.4(MID2):c.1090G>T (p.Ala364Ser)	LOC101928335, MID2 (A344S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 2424529	NC_000023.10:g.(?_106046084)_(108868249_?)del	ATG4A, CLDN2 +19 more	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2349455	NM_012216.4(MID2):c.2143C>T (p.Arg715Trp)	LOC101928335, MID2 (R665W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339011	NM_012216.4(MID2):c.167G>A (p.Arg56His)	MID2 (R36H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335598	NM_012216.4(MID2):c.560A>G (p.Asp187Gly)	MID2 (D187G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325832	NM_012216.4(MID2):c.1150T>G (p.Leu384Val)	LOC101928335, MID2 (L384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290898	NM_012216.4(MID2):c.1829A>G (p.Lys610Arg)	LOC101928335, MID2 (K560R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2244819	NM_012216.4(MID2):c.868G>A (p.Val290Ile)	LOC101928335, MID2 (V270I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244034	NM_012216.4(MID2):c.362G>T (p.Arg121Leu)	MID2 (R121L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1808513	GRCh37/hg19 Xq22.3(chrX:105730612-107162289)x3	CLDN2, DNAAF6 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
Select item 1709693	NM_012216.4(MID2):c.1131_1133delinsAGA (p.Asp377_Ala378delinsGluAsp)	LOC101928335, MID2	Indel (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703142	NM_012216.4(MID2):c.1217C>A (p.Ser406Tyr)	LOC101928335, MID2 (S386Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696300	NM_012216.4(MID2):c.397T>A (p.Ser133Thr)	MID2 (S113T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1683338	NM_012216.4(MID2):c.402C>G (p.Ser134Arg)	MID2 (S114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1343245	NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)	LOC101928335, MID2 (R458* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1336967	NM_012216.4(MID2):c.1662G>T (p.Leu554Phe)	LOC101928335, MID2 (L504F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328025	NM_012216.4(MID2):c.1662G>A (p.Leu554=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321169	NM_012216.4(MID2):c.180A>C (p.Ser60=)	MID2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1301698	NM_012216.4(MID2):c.373A>G (p.Thr125Ala)	MID2 (T105A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1047926	NM_012216.4(MID2):c.2070del (p.Phe691fs)	LOC101928335, MID2 (F641fs +3 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GLikely pathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 980314	GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3	TSC22D3, VSIG1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 857934	NM_012216.4(MID2):c.1834G>T (p.Ala612Ser)	LOC101928335, MID2 (A612S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 832248	NC_000023.11:g.(?_107628619)_(108696388_?)del	ATG4A, COL4A5 +7 more	Deletion	not provided	GPathogenic
Select item 818208	NM_012216.4(MID2):c.1447del (p.Ser483fs)	LOC101928335, MID2 (S453fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 101	GPathogenic
Select item 816378	GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	ACSL4, AMMECR1 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807798	NM_012216.4(MID2):c.991G>A (p.Val331Ile)	LOC101928335, MID2 (V331I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807797	NM_012216.4(MID2):c.490C>G (p.Arg164Gly)	MID2 (R164G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 800883	NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)	LOC101928335, MID2 (G520S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GConflicting classifications of pathogenicity
Select item 797535	NM_012216.4(MID2):c.900C>T (p.Ile300=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794087	NM_012216.4(MID2):c.582C>A (p.Thr194=)	MID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734233	NM_012216.4(MID2):c.817-10T>G	LOC101928335, MID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730148	NM_012216.4(MID2):c.1028A>G (p.Asn343Ser)	LOC101928335, MID2 (N343S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 729710	NM_012216.4(MID2):c.1734T>C (p.Tyr578=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723496	NM_012216.4(MID2):c.924+7C>T	LOC101928335, MID2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 716655	NM_012216.4(MID2):c.1602A>G (p.Gln534=)	LOC101928335, MID2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 691447	NM_012216.4(MID2):c.1757T>C (p.Ile586Thr)	LOC101928335, MID2 (I556T +1 more)	Single nucleotide variant (missense variant)	Esophageal atresia +1 more	GUncertain significance
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 more	Copy number loss	not provided	GPathogenic
Select item 548625	NM_012216.4(MID2):c.491G>A (p.Arg164His)	MID2 (R164H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 101	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 445781	NM_012216.4(MID2):c.720+17G>A	MID2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 445463	NM_012216.4(MID2):c.1074-4del	LOC101928335, MID2	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign

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