"GeneDx"[submitter] AND "LOC130006838"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1182469	NM_174934.4(SCN4B):c.62-79C>A	SCN4B, LOC130006838	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 403418	NM_174934.4(SCN4B):c.62-95C>T	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 403419	NM_174934.4(SCN4B):c.62-124G>A	LOC130006838, SCN4B	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign

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