23062[HGNC] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 3333444	NM_001011718.2(XKR7):c.40C>G (p.Pro14Ala)	XKR7 (P14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324363	NM_001011718.2(XKR7):c.59C>A (p.Ala20Asp)	XKR7 (A20D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486521	NM_001011718.2(XKR7):c.61G>T (p.Gly21Cys)	XKR7 (G21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349851	NM_001011718.2(XKR7):c.70C>T (p.Arg24Trp)	XKR7 (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333446	NM_001011718.2(XKR7):c.115C>T (p.Pro39Ser)	XKR7 (P39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393853	NM_001011718.2(XKR7):c.128T>G (p.Val43Gly)	XKR7 (V43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333447	NM_001011718.2(XKR7):c.209A>G (p.Asp70Gly)	XKR7 (D70G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191162	NM_001011718.2(XKR7):c.362G>T (p.Gly121Val)	XKR7 (G121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191163	NM_001011718.2(XKR7):c.374C>G (p.Pro125Arg)	XKR7 (P125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477317	NM_001011718.2(XKR7):c.404G>A (p.Gly135Asp)	XKR7 (G135D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263972	NM_001011718.2(XKR7):c.433G>C (p.Ala145Pro)	XKR7 (A145P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371562	NM_001011718.2(XKR7):c.466G>A (p.Glu156Lys)	XKR7 (E156K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380655	NM_001011718.2(XKR7):c.475C>T (p.Pro159Ser)	XKR7 (P159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281175	NM_001011718.2(XKR7):c.485C>T (p.Ala162Val)	XKR7 (A162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607136	NM_001011718.2(XKR7):c.488C>T (p.Pro163Leu)	XKR7 (P163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597180	NM_001011718.2(XKR7):c.625C>G (p.Arg209Gly)	XKR7 (R209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191164	NM_001011718.2(XKR7):c.628G>A (p.Gly210Arg)	XKR7 (G210R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191165	NM_001011718.2(XKR7):c.631G>A (p.Glu211Lys)	XKR7 (E211K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333443	NM_001011718.2(XKR7):c.860C>T (p.Ser287Leu)	XKR7 (S287L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346523	NM_001011718.2(XKR7):c.875G>A (p.Arg292Gln)	XKR7 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559132	NM_001011718.2(XKR7):c.895G>A (p.Ala299Thr)	XKR7 (A299T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191166	NM_001011718.2(XKR7):c.980A>G (p.Tyr327Cys)	XKR7 (Y327C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570230	NM_001011718.2(XKR7):c.997G>A (p.Val333Met)	XKR7 (V333M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604000	NM_001011718.2(XKR7):c.1122C>A (p.Asn374Lys)	XKR7 (N374K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540788	NM_001011718.2(XKR7):c.1231G>A (p.Asp411Asn)	XKR7 (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312704	NM_001011718.2(XKR7):c.1250T>C (p.Met417Thr)	XKR7 (M417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333448	NM_001011718.2(XKR7):c.1268C>T (p.Ser423Phe)	XKR7 (S423F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510092	NM_001011718.2(XKR7):c.1310G>A (p.Cys437Tyr)	XKR7 (C437Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250987	NM_001011718.2(XKR7):c.1451G>A (p.Arg484Gln)	XKR7 (R484Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455701	NM_001011718.2(XKR7):c.1466C>T (p.Ala489Val)	XKR7 (A489V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 982222	NM_001011718.2(XKR7):c.1475G>A (p.Arg492His)	XKR7 (R492H)	Single nucleotide variant (missense variant)	Moyamoya angiopathy	GLikely pathogenic
Select item 3191161	NM_001011718.2(XKR7):c.1541G>A (p.Arg514His)	XKR7 (R514H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379227	NM_001011718.2(XKR7):c.1673C>T (p.Thr558Met)	XKR7 (T558M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519051	NM_001011718.2(XKR7):c.1679G>A (p.Arg560Gln)	XKR7 (R560Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346672	NM_001011718.2(XKR7):c.1691G>C (p.Arg564Pro)	XKR7 (R564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 2684904	GRCh37/hg19 20q11.21(chr20:30582924-30860287)x3	CCM2L, HCK +4 more	Copy number gain	not provided	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808851	GRCh37/hg19 20q11.21(chr20:30299729-30687587)x3	BCL2L1, CCM2L +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 55