ClinVar for Gene (Select 27328) - 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 3304565	NM_032968.5(PCDH11X):c.1979C>T (p.Thr660Ile)	PCDH11X (T660I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304564	NM_032968.5(PCDH11X):c.2711C>T (p.Thr904Ile)	PCDH11X (T904I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304563	NM_032968.5(PCDH11X):c.1457C>T (p.Thr486Met)	PCDH11X (T486M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304562	NM_032968.5(PCDH11X):c.3491C>T (p.Ser1164Leu)	PCDH11X (S1164L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257583	NM_032968.5(PCDH11X):c.2523C>A (p.His841Gln)	PCDH11X (H841Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257546	NM_032968.5(PCDH11X):c.1210A>G (p.Ile404Val)	PCDH11X (I404V)	Single nucleotide variant (missense variant)	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 3209133	NM_032968.5(PCDH11X):c.3791T>A (p.Val1264Asp)	PCDH11X (V1254D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209131	NM_032968.5(PCDH11X):c.3115C>T (p.Arg1039Trp)	PCDH11X (R1039W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209130	NM_032968.5(PCDH11X):c.3004G>A (p.Glu1002Lys)	PCDH11X (E1002K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209129	NM_032968.5(PCDH11X):c.263G>T (p.Gly88Val)	PCDH11X (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209127	NM_032968.5(PCDH11X):c.2152G>A (p.Gly718Arg)	PCDH11X (G718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209126	NM_032968.5(PCDH11X):c.2107A>G (p.Asn703Asp)	PCDH11X (N703D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	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 2689667	NM_032968.5(PCDH11X):c.3385C>A (p.Gln1129Lys)	PCDH11X (Q1092K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685756	GRCh37/hg19 Xq21.31(chrX:90757308-91142616)x2	PCDH11X	Copy number gain	not provided	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 2684999	GRCh37/hg19 Xq21.31-21.32(chrX:91590732-92949806)x3	FAM133A, NAP1L3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684998	GRCh37/hg19 Xq21.31(chrX:90625130-91373172)x3	PABPC5, PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661016	NM_032968.5(PCDH11X):c.3915C>T (p.Tyr1305=)	PCDH11X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2661015	NM_032968.5(PCDH11X):c.3000C>G (p.Thr1000=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661014	NM_032968.5(PCDH11X):c.2325G>T (p.Ser775=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636350	NM_032968.5(PCDH11X):c.2834A>G (p.Gln945Arg)	PCDH11X (Q945R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2624294	NM_032968.5(PCDH11X):c.3346T>C (p.Phe1116Leu)	PCDH11X (F1106L +2 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2609556	NM_032968.5(PCDH11X):c.803T>G (p.Val268Gly)	PCDH11X (V268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602925	NM_032968.5(PCDH11X):c.3230G>C (p.Ser1077Thr)	PCDH11X (S1040T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599386	NM_032968.5(PCDH11X):c.3331G>A (p.Asp1111Asn)	PCDH11X (D1074N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597342	NM_032968.5(PCDH11X):c.2975C>T (p.Ser992Phe)	PCDH11X (S992F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592570	NM_032968.5(PCDH11X):c.3614T>C (p.Ile1205Thr)	PCDH11X (I1205T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569823	NM_032968.5(PCDH11X):c.2573A>G (p.Asn858Ser)	PCDH11X (N858S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551538	NM_032968.5(PCDH11X):c.473A>G (p.Tyr158Cys)	PCDH11X (Y158C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548995	NM_032968.5(PCDH11X):c.1877G>A (p.Arg626Gln)	PCDH11X (R626Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539833	NM_032968.5(PCDH11X):c.455C>T (p.Ser152Leu)	PCDH11X (S152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516369	NM_032968.5(PCDH11X):c.238G>A (p.Asp80Asn)	PCDH11X (D80N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515003	NM_032968.5(PCDH11X):c.2640C>A (p.Asn880Lys)	PCDH11X (N880K)	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 2489333	NM_032968.5(PCDH11X):c.653A>T (p.Lys218Ile)	PCDH11X (K218I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2486864	NM_032968.5(PCDH11X):c.3580G>C (p.Ala1194Pro)	PCDH11X (A1194P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485342	NM_032968.5(PCDH11X):c.1657A>G (p.Asn553Asp)	PCDH11X (N553D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462010	NM_032968.5(PCDH11X):c.3137C>T (p.Ala1046Val)	PCDH11X (A1046V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457141	NM_032968.5(PCDH11X):c.12G>T (p.Leu4Phe)	PCDH11X (L4F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408917	NM_032968.5(PCDH11X):c.3658C>T (p.His1220Tyr)	PCDH11X (H1202Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405216	NM_032968.5(PCDH11X):c.776C>T (p.Pro259Leu)	PCDH11X (P259L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391463	NM_032968.5(PCDH11X):c.3935A>G (p.His1312Arg)	PCDH11X (H1312R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376609	NM_032968.5(PCDH11X):c.3308G>A (p.Arg1103His)	PCDH11X (R1066H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335829	NM_032968.5(PCDH11X):c.1658A>C (p.Asn553Thr)	PCDH11X (N553T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332073	NM_032968.5(PCDH11X):c.3861T>G (p.Asp1287Glu)	PCDH11X (D1287E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316455	NM_032968.5(PCDH11X):c.3452C>T (p.Ala1151Val)	PCDH11X (A1143V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311813	NM_032968.5(PCDH11X):c.3854G>A (p.Gly1285Asp)	PCDH11X (G1248D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271814	NM_032968.5(PCDH11X):c.272T>C (p.Ile91Thr)	PCDH11X (I91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257602	NM_032968.5(PCDH11X):c.2095A>C (p.Ile699Leu)	PCDH11X (I699L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248515	NM_032968.5(PCDH11X):c.1850C>A (p.Thr617Asn)	PCDH11X (T617N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226449	NM_032968.5(PCDH11X):c.1958G>A (p.Arg653His)	PCDH11X (R653H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809472	GRCh37/hg19 Xq21.31(chrX:90036297-91527166)x3	PABPC5, PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 1808201	GRCh37/hg19 Xq21.31-21.33(chrX:87082472-95826084)x3	CPXCR1, FAM133A +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808153	GRCh37/hg19 Xq21.31(chrX:90926834-91135064)x2	PCDH11X	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 1708202	GRCh37/hg19 Xq21.31-22.1(chrX:90868186-99828437)x1	DIAPH2, FAM133A +4 more	Copy number loss	See cases	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 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 1340863	GRCh37/hg19 Xq21.31(chrX:90943434-91397723)x3	PCDH11X	Copy number gain	not provided	GUncertain significance
Select item 1330214	Single allele	DIAPH2, FAM133A +6 more	Deletion	Developmental and epileptic encephalopathy, 9	GPathogenic
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 1174757	NM_032968.5(PCDH11X):c.1656C>G (p.Ser552Arg)	PCDH11X (S552R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1087134	NM_032968.5(PCDH11X):c.718A>T (p.Thr240Ser)	PCDH11X (T240S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1040249	NM_032968.5(PCDH11X):c.92G>A (p.Arg31Gln)	PCDH11X (R31Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
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 807788	NM_032968.5(PCDH11X):c.3806G>A (p.Arg1269His)	PCDH11X (R1251H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 787161	NM_032968.5(PCDH11X):c.2061G>A (p.Pro687=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778631	NM_032968.5(PCDH11X):c.3053G>A (p.Arg1018Gln)	PCDH11X (R1018Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 748926	NM_032968.5(PCDH11X):c.3033G>A (p.Pro1011=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742054	NM_032968.5(PCDH11X):c.3144+7C>T	PCDH11X	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 738958	NM_032968.5(PCDH11X):c.2271A>G (p.Gly757=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735047	NM_032968.5(PCDH11X):c.3883G>C (p.Gly1295Arg)	PCDH11X (G1258R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 731058	NM_032968.5(PCDH11X):c.3060C>T (p.Cys1020=)	PCDH11X	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 729709	NM_032968.5(PCDH11X):c.4002G>A (p.Pro1334=)	PCDH11X	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 724999	NM_032968.5(PCDH11X):c.1011A>G (p.Ala337=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719241	NM_032968.5(PCDH11X):c.3638C>T (p.Pro1213Leu)	PCDH11X (P1213L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 713259	NM_032968.5(PCDH11X):c.10T>C (p.Leu4=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713172	NM_032968.5(PCDH11X):c.2874G>A (p.Ser958=)	PCDH11X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708290	NM_032968.5(PCDH11X):c.1284C>T (p.Ser428=)	PCDH11X	Single nucleotide variant (synonymous 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 687904	GRCh37/hg19 Xq21.31(chrX:90926826-91393737)x2	PCDH11X	Copy number gain	not provided	GUncertain significance
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

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