"GeneDx"[submitter] AND "LOC130066639"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59249	GRCh38/hg38 21q22.12-22.2(chr21:36396699-38951223)x3	CHAF1B, CLDN14 +99 more	Copy number gain	See cases	GPathogenic
Select item 59250	GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3	DSCR9, DYRK1A +34 more	Copy number gain	See cases	GPathogenic
Select item 1246270	NM_000411.8(HLCS):c.-393+88A>G	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287591	NM_000411.8(HLCS):c.-393+39T>C	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291347	NM_000411.8(HLCS):c.-393+26A>G	HLCS, LOC130066639	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137553	NM_000411.8(HLCS):c.-393+11G>T	HLCS, LOC130066639	Single nucleotide variant (intron variant)	Holocarboxylase synthetase deficiency +2 more	GBenign
Select item 137552	NM_000411.8(HLCS):c.-405T>C	HLCS, LOC130066639	Single nucleotide variant (5 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency +2 more	GBenign
Select item 339982	NM_000411.8(HLCS):c.-433C>T	HLCS, LOC130066639	Single nucleotide variant (5 prime UTR variant +1 more)	Holocarboxylase synthetase deficiency +1 more	GBenign
Select item 339983	NM_000411.7(HLCS):c.-466A>G	HLCS, LOC130066639	Single nucleotide variant	Holocarboxylase synthetase deficiency +1 more	GBenign
Select item 339984	NM_000411.7(HLCS):c.-471A>G	HLCS, LOC130066639	Single nucleotide variant	Holocarboxylase synthetase deficiency +1 more	GBenign
Select item 369362	NM_000411.7(HLCS):c.-480-12A>G	HLCS, LOC130066639	Single nucleotide variant	Holocarboxylase synthetase deficiency +1 more	GBenign