101928991[Gene ID] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	ABR, ABR-AS1 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	LOC130059869, LOC130059870 +243 more	Copy number loss	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	LOC130059930, LOC130059931 +352 more	Copy number loss	See cases	GPathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	INPP5K, CCDC92B +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	LOC130059937, LOC130059938 +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	ASPA, ATP2A3 +166 more	Copy number gain	See cases	GPathogenic
Select item 151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	CCDC92B, CLUH +38 more	Copy number loss	See cases	GPathogenic
Select item 58677	GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3	ANKFY1, ASPA +126 more	Copy number gain	See cases	GPathogenic
Select item 154132	GRCh38/hg38 17p13.3(chr17:2403263-2960737)x3	CCDC92B, CLUH +24 more	Copy number gain	See cases	GLikely pathogenic
Select item 145988	GRCh38/hg38 17p13.3(chr17:2414781-2722552)x3	CCDC92B, CLUH +17 more	Copy number gain	See cases	GPathogenic
Select item 59562	GRCh38/hg38 17p13.3-13.2(chr17:2527510-3467165)x1	CCDC92B, CLUH +36 more	Copy number loss	See cases	GPathogenic
Select item 146397	GRCh38/hg38 17p13.3(chr17:2581219-2767565)x1	CCDC92B, CLUH +13 more	Copy number loss	See cases	GPathogenic
Select item 983494	NC_000017.11:g.2688360_2784321del	CCDC92B, CLUH +10 more	Deletion	Chromosome 15q11.2 deletion syndrome	GLikely pathogenic

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Items: 25