"GeneDx"[submitter] AND "LOC130059495"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 58252	GRCh38/hg38 16q23.2(chr16:81083563-81219270)x1	GCSH, LOC112486210 +3 more	Copy number loss	See cases	GUncertain significance
Select item 1275956	NM_004483.5(GCSH):c.148+148dup	GCSH, LOC130059495	Duplication (intron variant)	not provided	GBenign
Select item 1278379	NM_004483.5(GCSH):c.148+146T>C	GCSH, LOC130059495	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294758	NM_004483.5(GCSH):c.148+87C>T	GCSH, LOC130059495	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 462910	NM_004483.5(GCSH):c.90C>G (p.Pro30=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 531790	NM_004483.5(GCSH):c.84G>A (p.Pro28=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	Non-ketotic hyperglycinemia +1 more	GBenign/Likely benign
Select item 1164317	NM_004483.5(GCSH):c.62C>T (p.Ser21Leu)	GCSH, LOC130059495 (S21L)	Single nucleotide variant (missense variant +1 more)	Non-ketotic hyperglycinemia +1 more	GBenign
Select item 695849	NM_004483.5(GCSH):c.33C>T (p.Ala11=)	GCSH, LOC130059495	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 265685	NM_004483.5(GCSH):c.1A>G (p.Met1Val)	GCSH, LOC130059495 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 808113	NM_004483.5(GCSH):c.-4G>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1278715	NM_004483.5(GCSH):c.-37C>T	GCSH, LOC130059495	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign