LOC129390761[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 59433	GRCh38/hg38 16p13.3-13.2(chr16:5589104-8091212)x1	LINC01570, LOC105371069 +22 more	Copy number loss	See cases	GPathogenic
Select item 59462	GRCh38/hg38 16p13.3(chr16:6327243-7195429)x1	LOC126862276, LOC126862277 +2 more	Copy number loss	See cases	GPathogenic
Select item 545209	NC_000016.10:g.(?_6631947)_(7029167_?)del	LOC129390761, RBFOX1	Deletion	Schizophrenia	GLikely pathogenic
Select item 59463	GRCh38/hg38 16p13.3(chr16:6698766-7028200)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 153397	GRCh38/hg38 16p13.3(chr16:6700078-7072768)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 148375	GRCh38/hg38 16p13.3(chr16:6704660-7072614)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 59465	GRCh38/hg38 16p13.3(chr16:6717241-7051313)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GPathogenic
Select item 59464	GRCh38/hg38 16p13.3(chr16:6717241-7051313)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GUncertain significance
Select item 154948	GRCh38/hg38 16p13.3(chr16:6723517-7136821)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152601	GRCh38/hg38 16p13.3(chr16:6735606-7038925)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 152587	GRCh38/hg38 16p13.3(chr16:6735606-7051254)x3	LOC129390761, RBFOX1	Copy number gain	See cases	GLikely benign
Select item 146416	GRCh38/hg38 16p13.3(chr16:6735606-7051313)x3	LOC129390761, RBFOX1	Copy number gain	See cases	Gconflicting data from submitters
Select item 154855	GRCh38/hg38 16p13.3(chr16:6815898-7055053)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 149699	GRCh38/hg38 16p13.3(chr16:6819368-7066203)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 58247	GRCh38/hg38 16p13.3(chr16:6870911-7020688)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 2665050	NC_000016.10:g.6905044_7356822del	LOC125146396, LOC126862276 +5 more	Deletion	not provided	GUncertain significance
Select item 155124	GRCh38/hg38 16p13.3(chr16:6922247-7055053)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 150017	GRCh38/hg38 16p13.3(chr16:6976343-7082652)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 155292	GRCh38/hg38 16p13.3(chr16:6984266-7093878)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 152590	GRCh38/hg38 16p13.3(chr16:6996159-7051254)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GLikely benign
Select item 153331	GRCh38/hg38 16p13.3(chr16:7002372-7146613)x1	LOC129390761, RBFOX1	Copy number loss	See cases	GUncertain significance
Select item 155148	GRCh38/hg38 16p13.3(chr16:7003812-7188664)x1	LOC126862276, LOC126862277 +2 more	Copy number loss	See cases	GUncertain significance

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Items: 28