"GeneDx"[submitter] AND "SND1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 776259	NM_022143.5(LRRC4):c.1635T>C (p.Ile545=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1266302	NM_022143.5(LRRC4):c.1110A>G (p.Ala370=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1258265	NM_022143.5(LRRC4):c.837T>A (p.Ser279=)	LRRC4, SND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic

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