NPIPB13[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
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 60447	GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	ALDOA, ASPHD1 +127 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 149487	GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	ALDOA, ASPHD1 +119 more	Copy number gain	See cases	GPathogenic
Select item 545198	Single allele	LOC121847977, LOC130058809 +118 more	Duplication	Autism	GPathogenic
Select item 148545	GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GLikely pathogenic
Select item 60464	GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GPathogenic
Select item 1679413	NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	LOC130058767, LOC130058768 +119 more	Deletion	See cases	GLikely pathogenic, low penetrance
Select item 148442	GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GLikely pathogenic
Select item 150206	GRCh38/hg38 16p11.2(chr16:29466739-30321248)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GPathogenic
Select item 545200	Single allele	LOC130058785, LOC130058786 +112 more	Duplication	Schizophrenia	GPathogenic
Select item 545199	NC_000016.10:g.(?_29480853)_(30254620_?)del	KCTD13, LOC130058798 +112 more	Deletion	Autism	GPathogenic
Select item 155319	GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GPathogenic
Select item 153220	GRCh38/hg38 16p11.2(chr16:29555974-30309999)x1	ALDOA, ASPHD1 +111 more	Copy number loss	See cases	GPathogenic
Select item 151764	GRCh38/hg38 16p11.2(chr16:29555974-30308986)x1	ALDOA, ASPHD1 +111 more	Copy number loss	See cases	GPathogenic
Select item 155364	GRCh38/hg38 16p11.2(chr16:29568699-30228906)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 153631	GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3	LOC130058760, LOC130058761 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 153216	GRCh38/hg38 16p11.2(chr16:29569779-30228906)x3	LOC130058769, LOC130058770 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 150389	GRCh38/hg38 16p11.2(chr16:29579233-30320693)x1	LOC130058759, LOC130058760 +111 more	Copy number loss	See cases	GPathogenic
Select item 150388	GRCh38/hg38 16p11.2(chr16:29579233-30320693)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 155297	GRCh38/hg38 16p11.2(chr16:29579757-30228906)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GPathogenic
Select item 161090	GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1	ALDOA, ASPHD1 +111 more	Copy number loss	See cases	GPathogenic
Select item 146284	GRCh38/hg38 16p11.2(chr16:29581462-30691912)x1	ALDOA, ASPHD1 +180 more	Copy number loss	See cases	GPathogenic
Select item 146122	GRCh38/hg38 16p11.2(chr16:29581462-30321260)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GPathogenic
Select item 32436	GRCh38/hg38 16p11.2(chr16:29581462-30321260)x1	ALDOA, ASPHD1 +111 more	Copy number loss	See cases	GPathogenic
Select item 154862	GRCh38/hg38 16p11.2(chr16:29581470-30321248)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GPathogenic
Select item 150136	GRCh38/hg38 16p11.2(chr16:29609368-30320693)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148372	GRCh38/hg38 16p11.2(chr16:29645363-30321270)x3	ALDOA, ASPHD1 +103 more	Copy number gain	See cases	GLikely pathogenic
Select item 60467	GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3	ALDOA, ASPHD1 +103 more	Copy number gain	See cases	GPathogenic
Select item 146482	GRCh38/hg38 16p11.2(chr16:29662633-30321260)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 33185	GRCh38/hg38 16p11.2(chr16:29662633-30321260)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GPathogenic
Select item 146730	GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GPathogenic
Select item 155318	GRCh38/hg38 16p11.2(chr16:29892937-30433124)x3	ALDOA, ASPHD1 +77 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic

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Items: 38