ClinVar for Gene (Select 219771) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685372	GRCh37/hg19 10p11.22-11.21(chr10:32617120-36913676)x1	CCDC7, CCNY +8 more	Copy number loss	not provided	GUncertain significance
Select item 2603049	NM_145012.6(CCNY):c.570C>T (p.Ile190=)	CCNY	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2556526	NM_145012.6(CCNY):c.290A>G (p.Lys97Arg)	CCNY (K43R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2548092	NM_145012.6(CCNY):c.805A>G (p.Ser269Gly)	CCNY (S215G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535065	NM_145012.6(CCNY):c.82C>G (p.Pro28Ala)	CCNY (P28A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516328	NM_145012.6(CCNY):c.266A>G (p.His89Arg)	CCNY (H89R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481687	NM_145012.6(CCNY):c.510G>C (p.Gln170His)	CCNY (Q145H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328842	NM_145012.6(CCNY):c.105G>C (p.Glu35Asp)	CCNY (E35D)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2278597	NM_145012.6(CCNY):c.307A>G (p.Thr103Ala)	CCNY (T49A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245439	NM_145012.6(CCNY):c.836G>A (p.Arg279His)	CCNY (R146H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222501	NM_145012.6(CCNY):c.370G>A (p.Ala124Thr)	CCNY (A124T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207268	NM_145012.6(CCNY):c.466G>A (p.Glu156Lys)	CCNY (E156K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 980363	GRCh37/hg19 10p11.21(chr10:35734289-37038603)x3	GJD4, CCNY +1 more	Copy number gain	not provided	GUncertain significance
Select item 815337	GRCh37/hg19 10p11.21(chr10:35683004-35802261)x1	CCNY	Copy number loss	not provided	GUncertain significance
Select item 688975	GRCh37/hg19 10p11.21(chr10:35737017-35793136)x1	CCNY	Copy number loss	not provided	GUncertain significance
Select item 688147	GRCh37/hg19 10p11.21(chr10:35666405-35757646)x1	CCNY	Copy number loss	not provided	GUncertain significance
Select item 684909	GRCh37/hg19 10p11.21(chr10:34795319-36729226)x1	CREM, CUL2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 563752	GRCh37/hg19 10p11.21(chr10:35021066-35594219)x3	CREM, CUL2 +2 more	Copy number gain	not provided	GLikely benign
Select item 560084	Single allele	CCNY, CCNY-AS1 +65 more	Deletion	not provided	GUncertain significance
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442629	GRCh37/hg19 10p11.21(chr10:35052688-35724594)x3	CCNY, CREM +2 more	Copy number gain	See cases	GLikely benign
Select item 442070	GRCh37/hg19 10p11.21(chr10:34613818-36003507)x3	CCNY, CREM +4 more	Copy number gain	See cases	GUncertain significance
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 221475	GRCh37/hg19 10p11.22-11.21(chr10:32323692-37520394)x3	CREM, CUL2 +10 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 146088	GRCh38/hg38 10p11.22-11.1(chr10:31999920-38119681)x3	ANKRD30A, CCDC7 +119 more	Copy number gain	See cases	GPathogenic
Select item 59701	GRCh38/hg38 10p11.21(chr10:34686264-35684215)x3	FZD8, CCNY +48 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32