ClinVar for Gene (Select 319103) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663913	NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)	CHD8, SNORD8 +1 more (R1551C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GConflicting classifications of pathogenicity
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic