20922[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 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 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 153846	GRCh38/hg38 16p11.2(chr16:29513831-30206791)x1	ALDOA, ASPHD1 +110 more	Copy number loss	See cases	GUncertain significance
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 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 3062345	GRCh38/hg38 16p11.2(chr16:29642391-30204353)	LOC121587541, LOC121847976 +105 more	Copy number loss	Epilepsy syndrome	GPathogenic, low penetrance
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
Select item 2380212	NM_001014999.3(SLX1A):c.199C>G (p.Leu67Val)	SLX1A, SLX1A-SULT1A3 (L67V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320602	NM_001014999.3(SLX1A):c.232G>A (p.Ala78Thr)	SLX1A, SLX1A-SULT1A3 (A78T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166184	NM_001014999.3(SLX1A):c.238C>G (p.Arg80Gly)	SLX1A, SLX1A-SULT1A3 (R80G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320605	NM_001014999.3(SLX1A):c.262C>A (p.Pro88Thr)	SLX1A, SLX1A-SULT1A3 (P88T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3166185	NM_001014999.3(SLX1A):c.269C>A (p.Ala90Asp)	SLX1A, SLX1A-SULT1A3 (A90D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2357024	NM_001014999.3(SLX1A):c.278G>T (p.Arg93Leu)	SLX1A, SLX1A-SULT1A3 (R93L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2347701	NM_001014999.3(SLX1A):c.305G>A (p.Arg102Gln)	SLX1A, SLX1A-SULT1A3 (R102Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3320603	NM_001014999.3(SLX1A):c.317C>G (p.Ala106Gly)	SLX1A, SLX1A-SULT1A3 (A106G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3166186	NM_001014999.3(SLX1A):c.351G>A (p.Met117Ile)	SLX1A, SLX1A-SULT1A3 (M117I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2363815	NM_001014999.3(SLX1A):c.358G>A (p.Ala120Thr)	SLX1A, SLX1A-SULT1A3 (A120T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2355080	NM_001014999.3(SLX1A):c.413G>A (p.Arg138His)	SLX1A, SLX1A-SULT1A3 (R138H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411110	NM_001014999.3(SLX1A):c.670G>A (p.Glu224Lys)	SLX1A, SLX1A-SULT1A3 (E110K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320606	NM_001014999.3(SLX1A):c.682C>T (p.Leu228Phe)	SLX1A, SLX1A-SULT1A3 (L228F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320601	NM_001014999.3(SLX1A):c.713G>C (p.Cys238Ser)	SLX1A, SLX1A-SULT1A3 (C238S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2646381	NM_001014999.3(SLX1A):c.738C>T (p.Asp246=)	SLX1A, SLX1A-SULT1A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2646382	NM_001014999.3(SLX1A):c.756G>A (p.Gln252=)	SLX1A, SLX1A-SULT1A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3024603	GRCh37/hg19 16p11.2(chr16:29472703-30256894)x1	ALDOA, ASPHD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 2685573	GRCh37/hg19 16p11.2(chr16:29589674-30226930)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2684803	GRCh37/hg19 16p11.2(chr16:29597823-30321320)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 2672674	GRCh37/hg19 16p11.2(chr16:29495010-30212427)x1	ASPHD1, ALDOA +28 more	Copy number loss	not provided	GPathogenic
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2576522	GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 2570962	GRCh37/hg19 16p11.2(chr16:29675050-30218384)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 2506560	GRCh37/hg19 16p11.2(chr16:29495011-30206548)	ALDOA, ASPHD1 +27 more	Copy number loss	Infantile convulsions and choreoathetosis	GPathogenic
Select item 2425683	NC_000016.9:g.(?_30199895)_(30237215_?)del	BOLA2B, CORO1A +2 more	Deletion	Severe combined immunodeficiency due to CORO1A deficiency	GUncertain significance
Select item 1810304	GRCh37/hg19 16p11.2(chr16:29670770-30207956)x3	MVP, YPEL3 +27 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1808476	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 1808472	GRCh37/hg19 16p11.2(chr16:29567296-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1808204	GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	YPEL3, ZG16 +31 more	Copy number loss	not provided	GPathogenic
Select item 1807842	GRCh37/hg19 16p11.2(chr16:29622758-30240227)x3	ALDOA, ASPHD1 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1703600	GRCh37/hg19 16p11.2(chr16:29628661-30306955)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1339950	GRCh37/hg19 16p11.2(chr16:29567295-30320307)x1	ALDOA, ASPHD1 +28 more	Copy number loss	Chromosome 16p11.2 duplication syndrome	Gnot provided
Select item 1330201	GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3	ALDOA, ASPHD1 +42 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 1330167	GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	ALDOA, ASPHD1 +31 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1330157	GRCh37/hg19 16p11.2(chr16:29974415-30596982)x1	ALDOA, BOLA2B +29 more	Copy number loss	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1199403	GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1	YPEL3, MAZ +28 more	Copy number loss	See cases	GPathogenic
Select item 1176677	GRCh37/hg19 16p11.2(chr16:29675050-30218221)x1	ALDOA, ASPHD1 +28 more	Copy number loss	not provided	GPathogenic
Select item 1172563	GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1	ALDOA, ASPHD1 +28 more	Copy number loss	See cases	GPathogenic
Select item 1077186	Single allele	GDPD3, ALDOA +28 more	Deletion	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 992652	GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	MAPK3, SLX1A +31 more	Copy number gain	not provided	GPathogenic
Select item 983165	GRCh37/hg19 16p11.2(chr16:29448001-30302100)	KIF22, TBX6 +31 more	Copy number gain	See cases	GPathogenic
Select item 974579	Single allele	DOC2A, GDPD3 +31 more	Deletion	Proximal 16p11.2 microdeletion syndrome	Grisk factor
Select item 929398	GRCh37/hg19 16p11.2(chr16:29595483-30215621)x1	ALDOA, ASPHD1 +28 more	Copy number loss	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 625603	GRCh37/hg19 16p11.2(chr16:29532264-30271237)	ALDOA, ASPHD1 +28 more	Copy number gain	Chromosome 16p11.2 duplication syndrome	GPathogenic
Select item 564326	GRCh37/hg19 16p11.2(chr16:29591078-30243606)x3	HIRIP3, MVP +28 more	Copy number gain	not provided	GPathogenic
Select item 564323	GRCh37/hg19 16p11.2(chr16:29567295-30344958)x1	CORO1A, INO80E +28 more	Copy number loss	not provided	GPathogenic
Select item 564322	GRCh37/hg19 16p11.2(chr16:29567295-30240227)x3	ZG16, TLCD3B +28 more	Copy number gain	not provided	GPathogenic
Select item 564320	GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1	INO80E, KCTD13 +31 more	Copy number loss	not provided	GPathogenic
Select item 564317	GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 443147	GRCh37/hg19 16p11.2(chr16:29571473-30243606)x3	ALDOA, ASPHD1 +28 more	Copy number gain	See cases	GLikely pathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic

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