ClinVar for Gene (Select 256815) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2429343	NM_001371909.1(C10orf67):c.1570+4090T>C	C10orf67, LINC01552	Single nucleotide variant (intron variant)	Pancreatic agenesis 2	GPathogenic
Select item 2405704	NM_001371909.1(C10orf67):c.20G>A (p.Arg7His)	C10orf67, C10orf67-AS1 (R8H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1286213	NC_000010.11:g.23219800C>T	PTF1A, C10orf67	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257978	NC_000010.11:g.23219094G>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 444147	NC_000010.11:g.23233560C>T	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444145	NC_000010.11:g.23255343T>C	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444144	NC_000010.11:g.23283453A>C	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444142	NC_000010.11:g.23259604C>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444141	NC_000010.11:g.23290495G>A	C10orf67, PTF1A	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
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 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 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20