ClinVar for Gene (Select 728888) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2672626	NM_001310137.5(NPIPB11):c.1659G>C (p.Ala553=)	NPIPB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646361	NM_001310137.5(NPIPB11):c.1431T>C (p.Ser477=)	NPIPB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646360	NM_001310137.5(NPIPB11):c.1808C>G (p.Pro603Arg)	NPIPB11 (P603R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 545198	Single allele	ALDOA, ASPHD1 +118 more	Duplication	Autism	GPathogenic
Select item 223115	NC_000016.10:g.(?_29390980)_(30215610_?)dup	ALDOA, ASPHD1 +117 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 160840	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 153260	GRCh38/hg38 16p12.1-11.2(chr16:28320366-29415078)x3	APOBR, ATP2A1 +72 more	Copy number gain	See cases	GUncertain significance
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	LOC130058805, LOC130058806 +187 more	Copy number loss	See cases	GPathogenic
Select item 149487	GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	ALDOA, ASPHD1 +119 more	Copy number gain	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 146827	GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	ALDOA, ASPHD1 +107 more	Copy number gain	See cases	GPathogenic
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 60447	GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	ALDOA, ASPHD1 +127 more	Copy number gain	See cases	GPathogenic
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	ALDOA, APOBR +179 more	Copy number gain	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 57462	GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3	ALDOA, ASPHD1 +120 more	Copy number gain	See cases	GPathogenic
Select item 34193	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 33024	GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GLikely pathogenic
Select item 32947	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 26