ClinVar for Gene (Select 130060171) - ClinVar - NCBI

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Links from Gene

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 665658	NC_000017.10:g.(?_7576843)_(7591611_?)dup	LOC126862483, LOC130060171 +3 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 659585	NC_000017.11:g.(?_7669599)_(7688293_?)del	LOC130060172, LOC126862483 +3 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC129390832, LOC130060171 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 528288	NC_000017.10:g.(?_7576847)_(7591611_?)dup	LOC126862483, LOC130060171 +3 more	Duplication	Li-Fraumeni syndrome	GUncertain significance
Select item 523161	GRCh38/hg38 17p13.1(chr17:7603519-7768486)x1	ATP1B2, DNAH2 +17 more	Copy number loss	Vascular endothelial growth factor (VEGF) inhibitor response	Gdrug response
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060192, LOC130060193 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 237937	NC_000017.11:g.(?_7668402)_(7687550_?)del	LOC126862483, LOC130060171 +3 more	Deletion	Li-Fraumeni syndrome	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 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	SPEM3, TEKT1 +229 more	Copy number loss	See cases	GPathogenic