ClinVar for Gene (Select 677765) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3391821	GRCh37/hg19 5q14.1-15(chr5:80522053-92353965)x3	POLR3G, TMEM167A +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 2685160	GRCh37/hg19 5q14.2(chr5:82300022-82443506)x1	SCARNA18, TMEM167A +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527175	GRCh37/hg19 5q14.2-14.3(chr5:82185951-90110454)	ADGRV1, CCNH +15 more	Copy number loss	not specified	GPathogenic
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563084	GRCh37/hg19 5q14.2(chr5:82355242-82603880)x1	TMEM167A, XRCC4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441883	GRCh37/hg19 5q14.2(chr5:82095432-82688973)x3	SCARNA18, TMEM167A +1 more	Copy number gain	See cases	GUncertain significance
Select item 395412	GRCh37/hg19 5q14.2(chr5:82207342-82631072)x3	SCARNA18, TMEM167A +1 more	Copy number gain	See cases	GUncertain significance
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic