2252[HGNC] - ClinVar - NCBI

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	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 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 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 223115	NC_000016.10:g.(?_29390980)_(30215610_?)dup	ALDOA, ASPHD1 +117 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 545198	Single allele	LOC121847977, LOC130058809 +118 more	Duplication	Autism	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 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 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 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 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 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 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 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 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 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 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 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 60466	GRCh38/hg38 16p11.2(chr16:29600893-30187279)x3	ALDOA, ASPHD1 +104 more	Copy number gain	See cases	GPathogenic
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 545202	Single allele	TBX6, TLCD3B +99 more	Duplication	Schizophrenia	GPathogenic
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	ALDOA, ASPHD1 +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 160918	GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1	ALDOA, ASPHD1 +94 more	Copy number loss	See cases	GPathogenic
Select item 160917	GRCh38/hg38 16p11.2(chr16:29662633-30187279)x3	ALDOA, ASPHD1 +94 more	Copy number gain	See cases	GLikely pathogenic
Select item 146913	GRCh38/hg38 16p11.2(chr16:29662633-30186020)x1	ALDOA, ASPHD1 +92 more	Copy number loss	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 60402	GRCh38/hg38 16p11.2(chr16:29662633-30187279)x1	ALDOA, ASPHD1 +94 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 60469	GRCh38/hg38 16p11.2(chr16:29662635-30186020)x3	ALDOA, ASPHD1 +92 more	Copy number gain	See cases	GLikely pathogenic
Select item 60405	GRCh38/hg38 16p11.2(chr16:29662635-30187279)x1	ALDOA, ASPHD1 +94 more	Copy number loss	See cases	GPathogenic
Select item 60404	GRCh38/hg38 16p11.2(chr16:29662635-30187279)x3	LOC130058815, LOC130058816 +94 more	Copy number gain	See cases	GLikely pathogenic
Select item 146730	GRCh38/hg38 16p11.2(chr16:29662646-30321248)x3	ALDOA, ASPHD1 +99 more	Copy number gain	See cases	GPathogenic
Select item 1703233	Single allele	LOC130058781, MAZ +92 more	Deletion	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 154808	GRCh38/hg38 16p11.2(chr16:29682770-30186020)x3	ALDOA, ASPHD1 +86 more	Copy number gain	See cases	GLikely pathogenic
Select item 60414	GRCh38/hg38 16p11.2(chr16:29844610-30187279)x1	ALDOA, ASPHD1 +51 more	Copy number loss	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
Select item 658983	NC_000016.10:g.(?_30066878)_(30188984_?)del	ALDOA, CORO1A +22 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 652956	NC_000016.9:g.(?_30078199)_(30200305_?)dup	ALDOA, CORO1A +22 more	Duplication	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 541425	NC_000016.10:g.(?_30066878)_(30188596_?)del	LOC130058819, PPP4C +22 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GPathogenic
Select item 474494	NC_000016.9:g.(?_30078199)_(30199917_?)dup	ALDOA, CORO1A +22 more	Duplication	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2817994	NM_007074.4(CORO1A):c.19C>T (p.Arg7Cys)	CORO1A (R7C)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1014798	NM_007074.4(CORO1A):c.23C>T (p.Ser8Phe)	CORO1A (S8F)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2058817	NM_007074.4(CORO1A):c.35G>T (p.Arg12Leu)	CORO1A (R12L)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely pathogenic
Select item 2166108	NM_007074.4(CORO1A):c.39C>T (p.His13=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1086142	NM_007074.4(CORO1A):c.42G>C (p.Val14=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1126255	NM_007074.4(CORO1A):c.54G>A (p.Pro18=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 766725	NM_007074.4(CORO1A):c.54G>C (p.Pro18=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1090316	NM_007074.4(CORO1A):c.57C>T (p.Ala19=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1982150	NM_007074.4(CORO1A):c.63C>A (p.Ala21=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2083489	NM_007074.4(CORO1A):c.82G>A (p.Val28Met)	CORO1A (V28M)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 717111	NM_007074.4(CORO1A):c.87C>T (p.Arg29=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 2128209	NM_007074.4(CORO1A):c.103T>C (p.Trp35Arg)	CORO1A (W35R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1389044	NM_007074.4(CORO1A):c.128A>G (p.Asn43Ser)	CORO1A (N43S)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2802681	NM_007074.4(CORO1A):c.129C>T (p.Asn43=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 3337965	NM_007074.4(CORO1A):c.143C>A (p.Ala48Asp)	CORO1A (A48D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843893	NM_007074.4(CORO1A):c.147G>A (p.Leu49=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1982899	NM_007074.4(CORO1A):c.195_198+13dup	CORO1A	Duplication (splice donor variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2719998	NM_007074.4(CORO1A):c.186G>C (p.Leu62=)	CORO1A	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1679822	NM_007074.4(CORO1A):c.189_190dup (p.Leu64fs)	CORO1A (L64fs)	Duplication (frameshift variant)	Sinoatrial node disorder	GLikely pathogenic
Select item 2122452	NM_007074.4(CORO1A):c.188C>G (p.Pro63Arg)	CORO1A (P63R)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1931534	NM_007074.4(CORO1A):c.198+3G>A	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 2739593	NM_007074.4(CORO1A):c.198+13G>C	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign
Select item 1652078	NM_007074.4(CORO1A):c.198+17C>T	CORO1A	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CORO1A deficiency	GLikely benign

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