"GeneDx"[submitter] AND "LOC126806192"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1316411	NC_000002.12:g.37231511C>G	CEBPZ, LOC126806192 +1 more (E19D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1291456	NC_000002.12:g.37231525G>A	CEBPZ, LOC126806192 +1 more (P15S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1262599	NC_000002.12:g.37231568G>A	CEBPZ, LOC126806192 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241731	NM_144736.5(NDUFAF7):c.-37_-36delinsC	LOC126806192, NDUFAF7	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 214756	NM_144736.5(NDUFAF7):c.-37del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 418379	NM_144736.5(NDUFAF7):c.-36del	LOC126806192, NDUFAF7	Deletion (5 prime UTR variant +1 more)	not specified	GBenign
Select item 138466	NM_144736.5(NDUFAF7):c.-36G>C	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 681600	NM_144736.5(NDUFAF7):c.-11C>T	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 214757	NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr)	LOC126806192, NDUFAF7 (S7T)	Single nucleotide variant (missense variant +1 more)	not specified	GConflicting classifications of pathogenicity
Select item 214761	NM_144736.5(NDUFAF7):c.23G>A (p.Gly8Asp)	LOC126806192, NDUFAF7 (G8D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 138467	NM_144736.5(NDUFAF7):c.50G>A (p.Arg17His)	LOC126806192, NDUFAF7 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1268049	NM_144736.5(NDUFAF7):c.56-66C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673729	NM_144736.5(NDUFAF7):c.56-41C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign