DOC2A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 315

<< First< Prev

Page of 4

	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 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 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 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 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 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	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 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 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 33024	GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	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 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 32947	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	ALDOA, ASPHD1 +108 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 146827	GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	ALDOA, ASPHD1 +107 more	Copy number gain	See cases	GPathogenic
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 223115	NC_000016.10:g.(?_29390980)_(30215610_?)dup	BOLA2-SMG1P6, BOLA2B +117 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 545198	Single allele	LOC121847977, LOC130058809 +118 more	Duplication	Autism	GPathogenic
Select item 155161	GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1	ALDOA, ASPHD1 +105 more	Copy number loss	See cases	GPathogenic
Select item 152773	GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1	ALDOA, ASPHD1 +110 more	Copy number loss	See cases	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 60375	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 60374	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3	ALDOA, ASPHD1 +108 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 149422	GRCh38/hg38 16p11.2(chr16:29466738-30186020)x3	C16orf54, C16orf92 +105 more	Copy number gain	See cases	GLikely pathogenic
Select item 148442	GRCh38/hg38 16p11.2(chr16:29466738-30320693)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GLikely pathogenic
Select item 144509	GRCh38/hg38 16p11.2(chr16:29466738-30179247)x1	LOC112352679, LOC112352680 +100 more	Copy number loss	See cases	GPathogenic
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 153808	GRCh38/hg38 16p11.2(chr16:29506377-30165919)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GLikely pathogenic
Select item 153698	GRCh38/hg38 16p11.2(chr16:29506377-30180527)x3	ALDOA, ASPHD1 +100 more	Copy number gain	See cases	GLikely pathogenic
Select item 223116	NC_000016.10:g.(?_29506378)_(30180574_?)del	CDIPTOSP, DOC2A +100 more	Deletion	Autism spectrum disorder	GLikely pathogenic
Select item 223113	NC_000016.10:g.(?_29506378)_(30180574_?)dup	KCTD13, LOC130058758 +100 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 153846	GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1	ALDOA, ASPHD1 +110 more	Copy number loss	See cases	GUncertain significance
Select item 545201	Single allele	KCTD13, LOC130058800 +104 more	Duplication	Autism	GPathogenic
Select item 155603	GRCh38/hg38 16p11.2(chr16:29555974-30166486)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155411	GRCh38/hg38 16p11.2(chr16:29555974-30166678)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155390	GRCh38/hg38 16p11.2(chr16:29555974-30167085)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155319	GRCh38/hg38 16p11.2(chr16:29555974-30309999)x3	ALDOA, ASPHD1 +111 more	Copy number gain	See cases	GPathogenic
Select item 155296	GRCh38/hg38 16p11.2(chr16:29555974-30166595)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 153770	GRCh38/hg38 16p11.2(chr16:29555974-30178708)x1	ALDOA, ASPHD1 +99 more	Copy number loss	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 152315	GRCh38/hg38 16p11.2(chr16:29555974-30215609)x1	ALDOA, ASPHD1 +110 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 154250	GRCh38/hg38 16p11.2(chr16:29555975-30180527)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GLikely pathogenic
Select item 60465	GRCh38/hg38 16p11.2(chr16:29566440-30187279)x3	ALDOA, ASPHD1 +106 more	Copy number gain	See cases	GPathogenic
Select item 60376	GRCh38/hg38 16p11.2(chr16:29566441-30187279)x1	ALDOA, ASPHD1 +106 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 153695	GRCh38/hg38 16p11.2(chr16:29568699-30166595)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 153631	GRCh38/hg38 16p11.2(chr16:29568699-30295634)x3	LOC130058760, LOC130058761 +111 more	Copy number gain	See cases	GLikely pathogenic
Select item 153311	GRCh38/hg38 16p11.2(chr16:29568699-30166678)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
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 149426	GRCh38/hg38 16p11.2(chr16:29579233-30186020)x1	ALDOA, ASPHD1 +104 more	Copy number loss	See cases	GPathogenic
Select item 149425	GRCh38/hg38 16p11.2(chr16:29579233-30186020)x3	ALDOA, ASPHD1 +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 148974	GRCh38/hg38 16p11.2(chr16:29579233-30179247)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148970	GRCh38/hg38 16p11.2(chr16:29579233-30179247)x3	ALDOA, ASPHD1 +99 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 160842	GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 160841	GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GPathogenic
Select item 151825	GRCh38/hg38 16p11.2(chr16:29581462-30185969)x3	ALDOA, ASPHD1 +104 more	Copy number gain	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 60382	GRCh38/hg38 16p11.2(chr16:29581462-30162533)x1	ALDOA, ASPHD1 +98 more	Copy number loss	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 31990	GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GPathogenic
Select item 31956	GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1	PRRT2, QPRT +99 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 149494	GRCh38/hg38 16p11.2(chr16:29581470-30179272)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 155238	GRCh38/hg38 16p11.2(chr16:29598613-30165919)x3	ALDOA, ASPHD1 +97 more	Copy number gain	See cases	GLikely pathogenic
Select item 60466	GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3	ALDOA, ASPHD1 +104 more	Copy number gain	See cases	GPathogenic
Select item 223114	NC_000016.10:g.(?_29602174)_(30178709_?)dup	DOC2A, LOC125146441 +97 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 152583	GRCh38/hg38 16p11.2(chr16:29609368-30185969)x1	ALDOA, ASPHD1 +101 more	Copy number loss	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 145958	GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3	ALDOA, ASPHD1 +96 more	Copy number gain	See cases	GLikely pathogenic
Select item 545202	Single allele	TBX6, TLCD3B +99 more	Duplication	Schizophrenia	GPathogenic
Select item 155514	GRCh38/hg38 16p11.2(chr16:29627319-30165919)x3	ALDOA, ASPHD1 +93 more	Copy number gain	See cases	GLikely pathogenic
Select item 545204	Single allele	LOC130058776, LOC130058777 +99 more	Duplication	Schizophrenia	GPathogenic
Select item 545203	NC_000016.10:g.(?_29627836)_(30184960_?)del	C16orf92, CDIPT +99 more	Deletion	Schizophrenia	GPathogenic
Select item 145058	GRCh38/hg38 16p11.2(chr16:29634999-30185969)x1	ALDOA, ASPHD1 +99 more	Copy number loss	See cases	GPathogenic
Select item 41405	16p11.2 recurrent region (BP4-BP5)	ALDOA, ASPHD1 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 545205	Single allele	LOC121587540, LOC121847976 +99 more	Duplication	Autism +1 more	GPathogenic
Select item 1684661	NC_000016.10:g.29640592_30187862del	LOC130058771, LOC130058772 +101 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
Select item 149293	GRCh38/hg38 16p11.2(chr16:29645363-30186020)x1	ALDOA, ASPHD1 +96 more	Copy number loss	See cases	GPathogenic
Select item 149292	GRCh38/hg38 16p11.2(chr16:29645363-30186020)x3	ALDOA, ASPHD1 +96 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 145047	GRCh38/hg38 16p11.2(chr16:29645363-30185969)x1	ALDOA, ASPHD1 +96 more	Copy number loss	See cases	GPathogenic
Select item 60467	GRCh38/hg38 16p11.2(chr16:29645363-30323310)x3	ALDOA, ASPHD1 +103 more	Copy number gain	See cases	GPathogenic
Select item 60385	GRCh38/hg38 16p11.2(chr16:29645363-30183432)x1	ALDOA, ASPHD1 +94 more	Copy number loss	See cases	GPathogenic
Select item 60384	GRCh38/hg38 16p11.2(chr16:29645363-30183432)x3	ALDOA, ASPHD1 +94 more	Copy number gain	See cases	GPathogenic
Select item 60398	GRCh38/hg38 16p11.2(chr16:29653208-30162533)x1	ALDOA, ASPHD1 +89 more	Copy number loss	See cases	GPathogenic
Select item 60397	GRCh38/hg38 16p11.2(chr16:29653208-30162533)x3	ALDOA, ASPHD1 +89 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 4