"GeneDx"[submitter] AND "LOC126861140"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224155	NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)	CTR9, LOC126861140 (E376K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1878756	NM_014633.5(CTR9):c.1194+1G>T	CTR9, LOC126861140	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1317506	NM_014633.5(CTR9):c.1194+56A>G	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168009	NM_014633.5(CTR9):c.1233T>C (p.Asp411=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1806792	NM_014633.4(CTR9):c.1286del	CTR9, LOC126861140	Deletion	not provided	GUncertain significance
Select item 3372109	NM_014633.5(CTR9):c.1315C>T (p.Arg439Ter)	CTR9, LOC126861140 (R439*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1274118	NM_014633.5(CTR9):c.1413+41_1413+45dup	CTR9, LOC126861140	Duplication (intron variant)	not provided	GBenign
Select item 1810628	NM_014633.5(CTR9):c.1448C>G (p.Ala483Gly)	CTR9, LOC126861140 (A483G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166401	NM_014633.5(CTR9):c.1461C>T (p.His487=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1165251	NM_014633.5(CTR9):c.1494C>T (p.Thr498=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1168010	NM_014633.5(CTR9):c.1557G>A (p.Leu519=)	CTR9, LOC126861140	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1175567	NM_014633.5(CTR9):c.1597+207G>C	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317208	NM_014633.5(CTR9):c.1597+212T>A	CTR9, LOC126861140	Single nucleotide variant (intron variant)	not provided	GLikely benign