RNU12[gene] - ClinVar - NCBI

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Items: 17

	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 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 2443787	NR_029422.2(RNU12):n.75A>G	RNU12	Single nucleotide variant (non-coding transcript variant)	Craniosynostosis-anal anomalies-porokeratosis syndrome	GPathogenic
Select item 2443786	NR_029422.2(RNU12):n.77T>G	RNU12	Single nucleotide variant (non-coding transcript variant)	Craniosynostosis-anal anomalies-porokeratosis syndrome	GPathogenic
Select item 2443785	NR_029422.2(RNU12):n.77T>A	RNU12	Single nucleotide variant (non-coding transcript variant)	Craniosynostosis-anal anomalies-porokeratosis syndrome	GPathogenic
Select item 2443782	NR_029422.2(RNU12):n.84C>T	RNU12	Single nucleotide variant (non-coding transcript variant)	Spinocerebellar ataxia, autosomal recessive 33	GPathogenic
Select item 2443784	NR_029422.2(RNU12):n.86G>A	RNU12	Single nucleotide variant (non-coding transcript variant)	Craniosynostosis-anal anomalies-porokeratosis syndrome	GPathogenic
Select item 2443783	NC_000022.11:g.42615396C>T	RNU12	Single nucleotide variant	Craniosynostosis-anal anomalies-porokeratosis syndrome	GPathogenic