MIAT[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 145620	GRCh38/hg38 22q11.23-12.1(chr22:25003092-28634004)x1	LOC130067151, LOC130067152 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 147324	GRCh38/hg38 22q12.1(chr22:25685148-28217405)x1	ASPHD2, CPMER +85 more	Copy number loss	See cases	GUncertain significance
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 151022	GRCh38/hg38 22q12.1(chr22:26535859-27296063)x1	CRYBA4, CRYBB1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 1022	Multiple alleles	MIAT	Single nucleotide variant (non-coding transcript variant)	Myocardial infarction, susceptibility to	Grisk factor
Select item 2691795	NR_033320.3(MIAT):n.952G>A	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3057049	NR_033320.3(MIAT):n.1248G>A	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 2691796	NR_033320.3(MIAT):n.1325G>A	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3035661	NR_033320.3(MIAT):n.1410G>T	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3056260	NR_033320.3(MIAT):n.3297G>C	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3037110	NR_033320.3(MIAT):n.3408G>C	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GLikely benign
Select item 3055781	NR_033320.3(MIAT):n.3597dup	MIAT	Duplication (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3036351	NR_033320.3(MIAT):n.4128_4131dup	MIAT	Duplication (non-coding transcript variant)	MIAT-related disorder	GLikely benign
Select item 2653010	NR_033320.3(MIAT):n.4297T>C	MIAT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3060877	NR_033320.3(MIAT):n.4786G>T	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3059963	NR_033320.3(MIAT):n.5354C>T	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3056598	NR_033320.3(MIAT):n.5614A>T	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3046181	NR_033320.3(MIAT):n.5715C>T	MIAT	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 3057060	NR_033320.3(MIAT):n.6816G>T	MIAT, MIATNB	Single nucleotide variant (non-coding transcript variant)	MIAT-related disorder	GBenign
Select item 2653011	NR_033320.3(MIAT):n.7816T>C	MIAT, MIATNB	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816215	GRCh37/hg19 22q12.1(chr22:26337910-28489947)x1	HPS4, MIAT +11 more	Copy number loss	not provided	GPathogenic
Select item 816197	GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	HIC2, HIRA +133 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 393743	GRCh37/hg19 22q12.1(chr22:27019157-27061978)x1	CRYBA4, MIAT	Copy number loss	See cases	GLikely benign
Select item 369847	hg19chr22:g.26995597_27074524dup	CRYBA4, CRYBB1 +1 more	Duplication	Developmental cataract	GLikely pathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 253473	GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	ADA2, ADORA2A +135 more	Copy number gain	See cases	GPathogenic
Select item 253022	GRCh37/hg19 22q12.1(chr22:27069493-29046492)x1	PITPNB, TTC28 +2 more	Copy number loss	Intellectual disability	GUncertain significance

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Items: 42