ClinVar for Gene (Select 84890) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273415	NM_032804.6(ADO):c.5C>T (p.Pro2Leu)	ADO (P2L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089978	NM_032804.6(ADO):c.776A>G (p.Glu259Gly)	ADO (E259G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089970	NM_032804.6(ADO):c.493G>A (p.Val165Met)	ADO (V165M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089966	NM_032804.6(ADO):c.437C>T (p.Ala146Val)	ADO (A146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089965	NM_032804.6(ADO):c.431C>T (p.Pro144Leu)	ADO (P144L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089957	NM_032804.6(ADO):c.116C>T (p.Pro39Leu)	ADO (P39L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089950	NM_032804.6(ADO):c.100G>C (p.Asp34His)	ADO (D34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2603379	NM_032804.6(ADO):c.688A>G (p.Arg230Gly)	ADO (R230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2365430	NM_032804.6(ADO):c.122C>T (p.Ala41Val)	ADO (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331003	NM_032804.6(ADO):c.282C>A (p.Asp94Glu)	ADO (D94E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288708	NM_032804.6(ADO):c.85G>A (p.Gly29Ser)	ADO (G29S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2259086	NM_032804.6(ADO):c.556A>C (p.Thr186Pro)	ADO (T186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1527588	GRCh37/hg19 10q21.2-21.3(chr10:63888935-64783617)	ADO, EGR2 +2 more	Copy number gain	not specified	GUncertain significance
Select item 815353	GRCh37/hg19 10q21.2-21.3(chr10:62191184-65348431)x1	CDK1, CABCOCO1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
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 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 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 155221	GRCh38/hg38 10q21.2-21.3(chr10:60977777-62913465)x3	ADO, ARID5B +78 more	Copy number gain	See cases	GUncertain significance
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 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 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

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Links from Gene

Items: 32