ClinVar for Gene (Select 11326) - 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 3347815	NM_007268.3(VSIG4):c.1186A>C (p.Lys396Gln)	VSIG4 (K302Q +1 more)	Single nucleotide variant (missense variant +2 more)	VSIG4-related disorder	GUncertain significance
Select item 3344334	NM_007268.3(VSIG4):c.472G>C (p.Gly158Arg)	LOC126863268, VSIG4 (G158R)	Single nucleotide variant (missense variant +1 more)	VSIG4-related disorder	GUncertain significance
Select item 3332354	NM_007268.3(VSIG4):c.343G>A (p.Val115Ile)	LOC126863268, VSIG4 (V115I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332353	NM_007268.3(VSIG4):c.883T>C (p.Cys295Arg)	VSIG4 (C201R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332352	NM_007268.3(VSIG4):c.584C>A (p.Thr195Asn)	LOC126863268, VSIG4 (T195N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332351	NM_007268.3(VSIG4):c.1030T>C (p.Ser344Pro)	VSIG4 (S250P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
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 3189134	NM_007268.3(VSIG4):c.947T>C (p.Val316Ala)	VSIG4 (V222A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189133	NM_007268.3(VSIG4):c.91G>A (p.Gly31Arg)	VSIG4 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189132	NM_007268.3(VSIG4):c.764C>G (p.Ser255Cys)	VSIG4 (S161C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189131	NM_007268.3(VSIG4):c.698C>T (p.Ser233Phe)	VSIG4 (S139F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189130	NM_007268.3(VSIG4):c.290C>T (p.Ser97Phe)	LOC126863268, VSIG4 (S97F)	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 3052435	NM_007268.3(VSIG4):c.757+8T>C	VSIG4	Single nucleotide variant (intron variant)	VSIG4-related disorder	GLikely benign
Select item 3050273	NM_007268.3(VSIG4):c.603G>A (p.Ala201=)	LOC126863268, VSIG4	Single nucleotide variant (synonymous variant +1 more)	VSIG4-related disorder	GLikely benign
Select item 3047863	NM_007268.3(VSIG4):c.590T>A (p.Leu197His)	LOC126863268, VSIG4 (L197H)	Single nucleotide variant (missense variant +1 more)	VSIG4-related disorder	GLikely benign
Select item 3047458	NM_007268.3(VSIG4):c.31G>A (p.Gly11Arg)	VSIG4 (G11R)	Single nucleotide variant (missense variant)	VSIG4-related disorder	GBenign
Select item 3047062	NM_007268.3(VSIG4):c.669C>T (p.Ser223=)	VSIG4	Single nucleotide variant (synonymous variant +1 more)	VSIG4-related disorder	GLikely benign
Select item 3046430	NM_007268.3(VSIG4):c.56-4T>C	VSIG4	Single nucleotide variant (intron variant)	VSIG4-related disorder	GLikely benign
Select item 3044903	NM_007268.3(VSIG4):c.322C>T (p.Arg108Trp)	LOC126863268, VSIG4 (R108W)	Single nucleotide variant (missense variant)	VSIG4-related disorder	GBenign
Select item 3035869	NM_007268.3(VSIG4):c.*127C>T	VSIG4	Single nucleotide variant (3 prime UTR variant +1 more)	VSIG4-related disorder	GLikely benign
Select item 3035770	NM_007268.3(VSIG4):c.56-10G>A	VSIG4	Single nucleotide variant (intron variant)	VSIG4-related disorder	GLikely benign
Select item 3034962	NM_007268.3(VSIG4):c.408G>A (p.Gln136=)	LOC126863268, VSIG4	Single nucleotide variant (synonymous variant)	VSIG4-related disorder	GLikely benign
Select item 2660763	NM_007268.3(VSIG4):c.758-7T>C	VSIG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620621	NM_007268.3(VSIG4):c.302G>A (p.Ser101Asn)	LOC126863268, VSIG4 (S101N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510007	NM_007268.3(VSIG4):c.794C>T (p.Thr265Ile)	VSIG4 (T171I +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 2468063	NM_007268.3(VSIG4):c.1175C>A (p.Ala392Asp)	VSIG4 (A298D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405206	NM_007268.3(VSIG4):c.1132G>A (p.Ala378Thr)	VSIG4 (A284T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390375	NM_007268.3(VSIG4):c.364G>C (p.Gly122Arg)	LOC126863268, VSIG4 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382563	NM_007268.3(VSIG4):c.722C>T (p.Thr241Ile)	VSIG4 (T241I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375511	NM_007268.3(VSIG4):c.613G>A (p.Asp205Asn)	LOC126863268, VSIG4 (D205N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374365	NM_007268.3(VSIG4):c.1135C>T (p.Arg379Cys)	VSIG4 (R285C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363607	NM_007268.3(VSIG4):c.793A>T (p.Thr265Ser)	VSIG4 (T171S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361450	NM_007268.3(VSIG4):c.736A>T (p.Thr246Ser)	VSIG4 (T246S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360948	NM_007268.3(VSIG4):c.669C>A (p.Ser223Arg)	VSIG4 (S223R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356490	NM_007268.3(VSIG4):c.480G>T (p.Arg160Ser)	LOC126863268, VSIG4 (R160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329980	NM_007268.3(VSIG4):c.114T>A (p.Asn38Lys)	VSIG4 (N38K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328659	NM_007268.3(VSIG4):c.730C>G (p.Pro244Ala)	VSIG4 (P150A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237180	NM_007268.3(VSIG4):c.43G>T (p.Val15Leu)	VSIG4 (V15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227196	NM_007268.3(VSIG4):c.58C>T (p.Arg20Cys)	VSIG4 (R20C)	Single nucleotide variant (missense variant)	not specified +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 1526806	GRCh37/hg19 Xq12(chrX:65057519-66020568)	EDA2R, HEPH +2 more	Copy number gain	not specified	GUncertain significance
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 1206413	NM_007268.3(VSIG4):c.94C>T (p.Pro32Ser)	VSIG4 (P32S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1206223	NM_007268.3(VSIG4):c.644G>A (p.Gly215Asp)	VSIG4 (G215D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 979824	GRCh37/hg19 Xq12(chrX:65255929-65894285)x3	EDA2R, VSIG4 +1 more	Copy number gain	not provided	GLikely benign
Select item 779483	NM_007268.3(VSIG4):c.274G>T (p.Val92Phe)	LOC126863268, VSIG4 (V92F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779482	NM_007268.3(VSIG4):c.1148C>T (p.Thr383Ile)	VSIG4 (T289I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 747414	NM_007268.3(VSIG4):c.694+7G>A	VSIG4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 722281	NM_007268.3(VSIG4):c.413-10T>G	LOC126863268, VSIG4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 689241	GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1	AMER1, AR +19 more	Copy number loss	not provided	GPathogenic
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 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
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253954	GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3	EDA, STARD8 +12 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic

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