"GeneDx"[submitter] AND "CLP1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 512573	NM_006831.3(CLP1):c.-34C>T	CLP1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514937	NM_006831.3(CLP1):c.-23+14dup	CLP1	Duplication (intron variant)	not specified	GLikely benign
Select item 1183423	NM_006831.3(CLP1):c.-22-216A>G	CLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391528	NM_006831.3(CLP1):c.552G>C (p.Leu184=)	CLP1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 668099	NM_006831.3(CLP1):c.607-282T>C	CLP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422519	NM_006831.3(CLP1):c.644G>A (p.Cys215Tyr)	CLP1 (C215Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508038	NM_006831.3(CLP1):c.650T>C (p.Val217Ala)	CLP1 (V217A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 388996	NM_006831.3(CLP1):c.798G>A (p.Leu266=)	CLP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 420322	NM_006831.3(CLP1):c.862C>T (p.Arg288Cys)	CLP1 (R288C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380076	NM_006831.3(CLP1):c.898C>T (p.Arg300Cys)	CLP1 (R300C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 388997	NM_006831.3(CLP1):c.951C>T (p.Phe317=)	CLP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign