19410[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3024480	NC_000010.11:g.(?_59792917)_(68231677_?)del	LOC124403968, LOC124403969 +220 more	Deletion	Intellectual developmental disorder, autosomal dominant 70	GLikely pathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 149285	GRCh38/hg38 10q21.3(chr10:66616757-67476125)x3	CTNNA3, LOC101928961 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154493	GRCh38/hg38 10q21.3(chr10:66870487-67090125)x1	CTNNA3, LOC101928961 +1 more	Copy number loss	See cases	GUncertain significance
Select item 3121223	NM_178011.5(LRRTM3):c.23T>C (p.Leu8Pro)	CTNNA3, LOC101928961 +1 more (L8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488267	NM_178011.5(LRRTM3):c.166C>A (p.Pro56Thr)	CTNNA3, LOC101928961 +1 more (P56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 802578	NM_013266.4(CTNNA3):c.1048-151703G>A	CTNNA3, LOC101928961 +1 more (A104V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 2283763	NM_178011.5(LRRTM3):c.383C>T (p.Thr128Ile)	CTNNA3, LOC101928961 +1 more (T128I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380012	NM_178011.5(LRRTM3):c.436C>T (p.His146Tyr)	CTNNA3, LOC101928961 +1 more (H146Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257069	NM_178011.5(LRRTM3):c.660C>T (p.Leu220=)	CTNNA3, LOC101928961 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2330443	NM_178011.5(LRRTM3):c.668C>T (p.Ala223Val)	CTNNA3, LOC101928961 +1 more (A223V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381808	NM_178011.5(LRRTM3):c.845G>T (p.Arg282Leu)	CTNNA3, LOC101928961 +1 more (R282L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292112	NM_178011.5(LRRTM3):c.1114G>T (p.Ala372Ser)	CTNNA3, LOC101928961 +1 more (A372S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304296	NM_178011.5(LRRTM3):c.1178C>T (p.Pro393Leu)	CTNNA3, LOC101928961 +1 more (P393L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292113	NM_178011.5(LRRTM3):c.1181C>T (p.Pro394Leu)	CTNNA3, LOC101928961 +1 more (P394L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238364	NM_178011.5(LRRTM3):c.1187C>T (p.Pro396Leu)	CTNNA3, LOC101928961 +1 more (P396L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121220	NM_178011.5(LRRTM3):c.1189C>A (p.Pro397Thr)	CTNNA3, LOC101928961 +1 more (P397T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464056	NM_178011.5(LRRTM3):c.1201G>T (p.Ala401Ser)	CTNNA3, LOC101928961 +1 more (A401S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121221	NM_178011.5(LRRTM3):c.1239G>T (p.Glu413Asp)	CTNNA3, LOC101928961 +1 more (E413D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219955	NM_178011.5(LRRTM3):c.1250T>C (p.Phe417Ser)	CTNNA3, LOC101928961 +1 more (F417S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306776	NM_178011.5(LRRTM3):c.1273G>A (p.Val425Met)	CTNNA3, LOC101928961 +1 more (V425M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3341695	NM_178011.5(LRRTM3):c.1278G>T (p.Ala426=)	CTNNA3, LOC101928961 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624133	NM_178011.5(LRRTM3):c.1528G>A (p.Glu510Lys)	CTNNA3, LOC101928961 +1 more (E510K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292111	NM_178011.5(LRRTM3):c.1640C>T (p.Thr547Met)	CTNNA3, LRRTM3 (T547M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549869	NM_178011.5(LRRTM3):c.1658C>T (p.Thr553Met)	CTNNA3, LRRTM3 (T553M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555973	NM_178011.5(LRRTM3):c.1669C>T (p.His557Tyr)	CTNNA3, LRRTM3 (H557Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3121222	NM_178011.5(LRRTM3):c.1715G>A (p.Arg572Gln)	CTNNA3, LRRTM3 (R572Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685380	GRCh37/hg19 10q21.3(chr10:68506202-68744348)x1	CTNNA3, LRRTM3	Copy number loss	not provided	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527589	GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714)	ADAMTS14, ADK +91 more	Copy number loss	not specified	GPathogenic
Select item 1444876	NC_000010.10:g.(?_67680088)_(71332799_?)del	ATOH7, CCAR1 +24 more	Deletion	not provided	GPathogenic
Select item 1429897	NC_000010.10:g.(?_68381430)_(69407271_?)dup	CTNNA3, LRRTM3	Duplication	Arrhythmogenic right ventricular dysplasia 13	GUncertain significance
Select item 1340516	GRCh37/hg19 10q21.3(chr10:68842730-68970039)x1	CTNNA3, LRRTM3	Copy number loss	not provided	GUncertain significance
Select item 815356	GRCh37/hg19 10q21.3(chr10:68735255-68938523)x3	CTNNA3, LRRTM3	Copy number gain	not provided	GUncertain significance
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 444846	GRCh37/hg19 10q21.3-22.1(chr10:68394411-70673475)x1	HERC4, HNRNPH3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443172	GRCh37/hg19 10q21.3(chr10:68085761-68778597)x1	CTNNA3, LRRTM3	Copy number loss	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 394317	GRCh37/hg19 10q21.3(chr10:68772358-68885637)x3	CTNNA3, LRRTM3	Copy number gain	See cases	GLikely benign
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 369834	GRCh37/hg19 10q21.3(chr10:68738624-68926461)x3	CTNNA3, LRRTM3	Copy number gain	not provided	GUncertain significance

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Items: 51