"GeneDx"[submitter] AND "LOC112543434"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
Select item 151490	GRCh38/hg38 18p11.31-11.23(chr18:6913063-7354636)x3	ARHGAP28, LAMA1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1696951	NM_005559.4(LAMA1):c.1427A>G (p.Asn476Ser)	LAMA1, LOC112543434 (N476S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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