ClinVar for Gene (Select 2986) - 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 3283182	NM_001522.3(GUCY2F):c.1219G>T (p.Val407Leu)	GUCY2F (V407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283181	NM_001522.3(GUCY2F):c.1805G>A (p.Arg602His)	GUCY2F (R602H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283180	NM_001522.3(GUCY2F):c.994G>T (p.Ala332Ser)	GUCY2F (A332S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283179	NM_001522.3(GUCY2F):c.1494G>C (p.Gln498His)	GUCY2F (Q498H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283177	NM_001522.3(GUCY2F):c.761T>C (p.Ile254Thr)	GUCY2F (I254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283176	NM_001522.3(GUCY2F):c.994G>A (p.Ala332Thr)	GUCY2F (A332T)	Single nucleotide variant (missense variant)	not specified	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 3103326	NM_001522.3(GUCY2F):c.841T>C (p.Tyr281His)	GUCY2F (Y281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103325	NM_001522.3(GUCY2F):c.2965G>T (p.Val989Phe)	GUCY2F (V989F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103324	NM_001522.3(GUCY2F):c.2605C>G (p.Leu869Val)	GUCY2F (L869V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103323	NM_001522.3(GUCY2F):c.2558C>T (p.Thr853Met)	GUCY2F (T853M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103322	NM_001522.3(GUCY2F):c.2555A>C (p.Lys852Thr)	GUCY2F (K852T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103320	NM_001522.3(GUCY2F):c.2525G>A (p.Arg842Gln)	GUCY2F (R842Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103319	NM_001522.3(GUCY2F):c.2171G>T (p.Ser724Ile)	GUCY2F (S724I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103318	NM_001522.3(GUCY2F):c.2124A>C (p.Glu708Asp)	GUCY2F (E708D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103317	NM_001522.3(GUCY2F):c.1804C>T (p.Arg602Cys)	GUCY2F (R602C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103316	NM_001522.3(GUCY2F):c.1580G>A (p.Arg527His)	GUCY2F (R527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103315	NM_001522.3(GUCY2F):c.1550A>G (p.Asn517Ser)	GUCY2F (N517S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103314	NM_001522.3(GUCY2F):c.1357T>C (p.Trp453Arg)	GUCY2F (W453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103313	NM_001522.3(GUCY2F):c.1006A>G (p.Ile336Val)	GUCY2F (I336V)	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 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
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 2661178	NM_001522.3(GUCY2F):c.615C>A (p.Val205=)	GUCY2F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661177	NM_001522.3(GUCY2F):c.2741C>T (p.Thr914Ile)	GUCY2F (T914I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2614130	NM_001522.3(GUCY2F):c.1289T>C (p.Leu430Pro)	GUCY2F (L430P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602353	NM_001522.3(GUCY2F):c.1396C>A (p.Pro466Thr)	GUCY2F (P466T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554248	NM_001522.3(GUCY2F):c.2647G>C (p.Val883Leu)	GUCY2F (V883L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524455	NM_001522.3(GUCY2F):c.2917C>A (p.Pro973Thr)	GUCY2F (P973T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514387	NM_001522.3(GUCY2F):c.1262C>T (p.Thr421Ile)	GUCY2F (T421I)	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 2471164	NM_001522.3(GUCY2F):c.2819G>A (p.Gly940Asp)	GUCY2F (G940D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469318	NM_001522.3(GUCY2F):c.2042G>A (p.Arg681His)	GUCY2F (R681H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468046	NM_001522.3(GUCY2F):c.2065T>C (p.Tyr689His)	GUCY2F (Y689H)	Single nucleotide variant (missense variant)	not specified	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 2410443	NM_001522.3(GUCY2F):c.2672T>G (p.Val891Gly)	GUCY2F (V891G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375319	NM_001522.3(GUCY2F):c.3191A>G (p.Lys1064Arg)	GUCY2F (K1064R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348217	NM_001522.3(GUCY2F):c.3131G>C (p.Arg1044Pro)	GUCY2F (R1044P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336946	NM_001522.3(GUCY2F):c.1676A>G (p.Glu559Gly)	GUCY2F (E559G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321385	NM_001522.3(GUCY2F):c.2954C>T (p.Ser985Leu)	GUCY2F (S985L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308631	NM_001522.3(GUCY2F):c.542A>G (p.Lys181Arg)	GUCY2F (K181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301714	NM_001522.3(GUCY2F):c.952T>C (p.Ser318Pro)	GUCY2F (S318P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279252	NM_001522.3(GUCY2F):c.1555C>T (p.His519Tyr)	GUCY2F (H519Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275374	NM_001522.3(GUCY2F):c.1361T>C (p.Phe454Ser)	GUCY2F (F454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260096	NM_001522.3(GUCY2F):c.109T>A (p.Cys37Ser)	GUCY2F (C37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242420	NM_001522.3(GUCY2F):c.3238G>A (p.Gly1080Arg)	GUCY2F (G1080R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229785	NM_001522.3(GUCY2F):c.1667C>T (p.Ala556Val)	GUCY2F (A556V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222103	NM_001522.3(GUCY2F):c.1294C>T (p.Arg432Cys)	GUCY2F (R432C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208971	NM_001522.3(GUCY2F):c.259C>G (p.Pro87Ala)	GUCY2F (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208169	NM_001522.3(GUCY2F):c.1970G>A (p.Gly657Asp)	GUCY2F (G657D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207328	NM_001522.3(GUCY2F):c.2519G>A (p.Arg840Gln)	GUCY2F (R840Q)	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 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic
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 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 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 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
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 1206400	NM_001522.3(GUCY2F):c.2588+1G>A	GUCY2F	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1206355	NM_001522.3(GUCY2F):c.2380G>A (p.Glu794Lys)	GUCY2F (E794K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1180512	GRCh37/hg19 Xq22.3-23(chrX:108168780-109606201)x0	ACSL4, AMMECR1 +4 more	Copy number loss	not provided	GPathogenic
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 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 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 799495	NM_001522.3(GUCY2F):c.1308C>T (p.Thr436=)	GUCY2F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790244	NM_001522.3(GUCY2F):c.1483A>C (p.Asn495His)	GUCY2F (N495H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777820	NM_001522.3(GUCY2F):c.923A>G (p.Tyr308Cys)	GUCY2F (Y308C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771548	NM_001522.3(GUCY2F):c.688C>T (p.Arg230Trp)	GUCY2F (R230W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 744970	NM_001522.3(GUCY2F):c.1650A>G (p.Ser550=)	GUCY2F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729479	NM_001522.3(GUCY2F):c.930A>G (p.Ala310=)	GUCY2F	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718704	NM_001522.3(GUCY2F):c.220G>C (p.Val74Leu)	GUCY2F (V74L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 597543	NM_001522.3(GUCY2F):c.2657A>G (p.Tyr886Cys)	GUCY2F (Y886C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	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 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 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic

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