ClinVar for MedGen (Select 906997) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064543	NM_001135998.3(NDUFB11):c.261G>A (p.Met87Ile)	NDUFB11 (M87I)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
Select item 2584528	NM_001135998.3(NDUFB11):c.385C>T (p.Arg129Ter)	NDUFB11 (R129* +1 more)	Single nucleotide variant (nonsense)	Linear skin defects with multiple congenital anomalies 3 +1 more	GLikely pathogenic
Select item 1299427	NM_001135998.3(NDUFB11):c.83G>T (p.Arg28Leu)	NDUFB11 (R28L)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
Select item 1048558	NM_001135998.3(NDUFB11):c.2T>A (p.Met1Lys)	NDUFB11 (M1K)	Single nucleotide variant (missense variant +1 more)	Linear skin defects with multiple congenital anomalies 3	GUncertain significance
Select item 372149	NM_001135998.3(NDUFB11):c.361G>A (p.Glu121Lys)	NDUFB11 (E121K +1 more)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 3 +1 more	GPathogenic/Likely pathogenic
Select item 190303	NM_001135998.3(NDUFB11):c.372del (p.Arg124fs)	NDUFB11 (R124fs +1 more)	Deletion (frameshift variant)	Linear skin defects with multiple congenital anomalies 3	GPathogenic
Select item 190302	NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)	NDUFB11 (R88*)	Single nucleotide variant (nonsense)	Mitochondrial complex I deficiency, nuclear type 1 +3 more	GPathogenic

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