ClinVar for Gene (Select 93953) - 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 3281061	NM_052957.5(GCNA):c.308A>G (p.Asp103Gly)	GCNA (D103G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281060	NM_052957.5(GCNA):c.1867A>T (p.Ile623Leu)	GCNA, LOC125467762 (I623L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281059	NM_052957.5(GCNA):c.1451A>G (p.Glu484Gly)	GCNA (E484G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281058	NM_052957.5(GCNA):c.617A>G (p.Asp206Gly)	GCNA (D206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281057	NM_052957.5(GCNA):c.361A>G (p.Ile121Val)	GCNA (I121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281056	NM_052957.5(GCNA):c.1411C>T (p.Arg471Cys)	GCNA (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 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 3099116	NM_052957.5(GCNA):c.984T>G (p.Asn328Lys)	GCNA (N328K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099115	NM_052957.5(GCNA):c.856G>A (p.Asp286Asn)	GCNA (D286N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099114	NM_052957.5(GCNA):c.84C>G (p.Ser28Arg)	GCNA (S28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099113	NM_052957.5(GCNA):c.701T>A (p.Val234Asp)	GCNA (V234D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099112	NM_052957.5(GCNA):c.635C>T (p.Ser212Leu)	GCNA (S212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099111	NM_052957.5(GCNA):c.62A>G (p.Tyr21Cys)	GCNA (Y21C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099110	NM_052957.5(GCNA):c.624C>G (p.Asn208Lys)	GCNA (N208K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099109	NM_052957.5(GCNA):c.619G>A (p.Asp207Asn)	GCNA (D207N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099108	NM_052957.5(GCNA):c.568G>A (p.Asp190Asn)	GCNA (D190N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099107	NM_052957.5(GCNA):c.565C>T (p.Pro189Ser)	GCNA (P189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099106	NM_052957.5(GCNA):c.541G>A (p.Asp181Asn)	GCNA (D181N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099105	NM_052957.5(GCNA):c.510C>A (p.Asp170Glu)	GCNA (D170E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099104	NM_052957.5(GCNA):c.40C>T (p.Pro14Ser)	GCNA (P14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099103	NM_052957.5(GCNA):c.307G>A (p.Asp103Asn)	GCNA (D103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099102	NM_052957.5(GCNA):c.263A>G (p.His88Arg)	GCNA (H88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099101	NM_052957.5(GCNA):c.2056C>T (p.Arg686Cys)	GCNA (R686C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099100	NM_052957.5(GCNA):c.2015G>A (p.Gly672Glu)	GCNA (G672E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099099	NM_052957.5(GCNA):c.1895G>A (p.Arg632His)	GCNA, LOC125467762 (R632H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099098	NM_052957.5(GCNA):c.1833C>A (p.Asp611Glu)	GCNA, LOC125467762 (D611E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099097	NM_052957.5(GCNA):c.1580A>G (p.Asp527Gly)	GCNA (D527G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099096	NM_052957.5(GCNA):c.1547G>A (p.Arg516Gln)	GCNA (R516Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099095	NM_052957.5(GCNA):c.143G>A (p.Cys48Tyr)	GCNA (C48Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099094	NM_052957.5(GCNA):c.1342A>G (p.Ile448Val)	GCNA (I448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099093	NM_052957.5(GCNA):c.1070C>G (p.Ala357Gly)	GCNA (A357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099092	NM_052957.5(GCNA):c.1043C>T (p.Ala348Val)	GCNA (A348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099091	NM_052957.5(GCNA):c.1040T>C (p.Ile347Thr)	GCNA (I347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3025388	NM_052957.5(GCNA):c.871G>T (p.Asp291Tyr)	GCNA (D291Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024813	NM_052957.5(GCNA):c.477T>C (p.Pro159=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024732	NM_052957.5(GCNA):c.438A>G (p.Ser146=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	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 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660888	NM_052957.5(GCNA):c.1597G>A (p.Val533Ile)	GCNA (V533I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660887	NM_052957.5(GCNA):c.1489G>A (p.Gly497Arg)	GCNA (G497R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660886	NM_052957.5(GCNA):c.540C>T (p.Asp180=)	GCNA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618228	NM_052957.5(GCNA):c.1235A>C (p.Lys412Thr)	GCNA (K412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601641	NM_052957.5(GCNA):c.654G>C (p.Lys218Asn)	GCNA (K218N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2599340	NM_052957.5(GCNA):c.202G>C (p.Ala68Pro)	GCNA (A68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594581	NM_052957.5(GCNA):c.1991G>A (p.Arg664His)	GCNA (R664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591406	NM_052957.5(GCNA):c.1412G>A (p.Arg471His)	GCNA (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548079	NM_052957.5(GCNA):c.815C>T (p.Ser272Leu)	GCNA (S272L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529435	NM_052957.5(GCNA):c.491A>G (p.Asp164Gly)	GCNA (D164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516121	NM_052957.5(GCNA):c.2057G>A (p.Arg686His)	GCNA (R686H)	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 2469905	NM_052957.5(GCNA):c.793C>T (p.Pro265Ser)	GCNA (P265S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469497	NM_052957.5(GCNA):c.421G>A (p.Asp141Asn)	GCNA (D141N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466309	NM_052957.5(GCNA):c.1285A>T (p.Thr429Ser)	GCNA (T429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458629	NM_052957.5(GCNA):c.1952C>T (p.Thr651Met)	GCNA, LOC125467762 (T651M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458388	NM_052957.5(GCNA):c.616G>A (p.Asp206Asn)	GCNA (D206N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454344	NM_052957.5(GCNA):c.89A>G (p.Asp30Gly)	GCNA (D30G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 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 1676580	NM_052957.5(GCNA):c.653_654delinsGC (p.Lys218Ser)	GCNA (K218S)	Indel	Spermatogenic failure, X-linked, 4	GPathogenic
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 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 1328948	NM_052957.5(GCNA):c.1507del (p.Glu504fs)	GCNA (E504fs)	Deletion (frameshift variant)	Spermatogenic failure, X-linked, 4 +1 more	GPathogenic
Select item 1244252	NM_052957.5(GCNA):c.343del (p.Ala115fs)	GCNA (A115fs)	Deletion (frameshift variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1180854	NM_052957.5(GCNA):c.1180G>T (p.Glu394Ter)	GCNA (E394*)	Single nucleotide variant (nonsense)	Spermatogenic failure, X-linked, 4 +1 more	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 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 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
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 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 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	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
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442898	GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x2	CXCR3, CXorf49 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442897	GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3	CXCR3, CXorf49 +14 more	Copy number gain	See cases	GUncertain significance
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance

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