"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NDUFB11"[g - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1437660	NM_001135998.3(NDUFB11):c.415T>G (p.Ser139Ala)	NDUFB11 (S139A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1879761	NM_001135998.3(NDUFB11):c.404C>T (p.Pro135Leu)	NDUFB11 (P135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704717	NM_001135998.3(NDUFB11):c.338+22G>A	NDUFB11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1012863	NM_001135998.3(NDUFB11):c.327G>C (p.Leu109=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734370	NM_001135998.3(NDUFB11):c.283G>A (p.Val95Ile)	NDUFB11 (V95I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2660395	NM_001135998.3(NDUFB11):c.282C>G (p.Gly94=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 703984	NM_001135998.3(NDUFB11):c.250G>A (p.Val84Ile)	NDUFB11 (V84I)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2660396	NM_001135998.3(NDUFB11):c.124G>T (p.Ala42Ser)	NDUFB11 (A42S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660397	NM_001135998.3(NDUFB11):c.69G>A (p.Pro23=)	NDUFB11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499133	NM_001135998.3(NDUFB11):c.34del (p.Arg12fs)	NDUFB11 (R12fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance