LOC121587601[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 324047	NM_000023.4(SGCA):c.*90A>G	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324048	NM_000023.4(SGCA):c.*92C>T	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GBenign
Select item 324049	NM_000023.4(SGCA):c.*134del	LOC121587601, SGCA	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 324050	NM_000023.4(SGCA):c.*148G>A	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance
Select item 324051	NM_000023.4(SGCA):c.*166A>G	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GBenign
Select item 324052	NM_000023.4(SGCA):c.*227G>A	LOC121587601, SGCA	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcoglycanopathy	GUncertain significance