ClinVar for MedGen (Select 163210) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064959	NM_005333.5(HCCS):c.2T>C (p.Met1Thr)	HCCS (M1T)	Single nucleotide variant (missense variant +1 more)	Linear skin defects with multiple congenital anomalies 1	GLikely pathogenic
Select item 2689196	NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)	HCCS (A174S)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 2581140	NM_005333.5(HCCS):c.334G>A (p.Ala112Thr)	HCCS (A112T)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	Gnot provided
Select item 2573195	NM_005333.5(HCCS):c.608+5G>C	HCCS	Single nucleotide variant (intron variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 1710275	NM_005333.5(HCCS):c.253-3T>G	HCCS	Single nucleotide variant (intron variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 1320309	NM_005333.5(HCCS):c.736C>T (p.Arg246Cys)	HCCS (R246C)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 987889	NM_005333.5(HCCS):c.308_309insAGT (p.Val103dup)	HCCS	Insertion (inframe_insertion)	Linear skin defects with multiple congenital anomalies 1	GLikely pathogenic
Select item 638355	NM_001135998.3(NDUFB11):c.359G>A (p.Arg120His)	NDUFB11 (R130H +1 more)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
Select item 522980	NM_005333.5(HCCS):c.199C>A (p.Pro67Thr)	HCCS (P67T)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	GUncertain significance
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
Select item 21444	NM_005333.5(HCCS):c.475G>A (p.Glu159Lys)	HCCS (E159K)	Single nucleotide variant (missense variant)	Linear skin defects with multiple congenital anomalies 1	Gnot provided
Select item 11671	NM_005333.5(HCCS):c.649C>T (p.Arg217Cys)	HCCS (R217C)	Single nucleotide variant (missense variant)	HCCS-related disorder	GLikely pathogenic
Select item 11670	NM_005333.5(HCCS):c.589C>T (p.Arg197Ter)	HCCS (R197*)	Single nucleotide variant (nonsense)	Linear skin defects with multiple congenital anomalies 1	GPathogenic
Select item 11669	NC_000023.11:g.11106247_11114917del	HCCS, HCCS-DT +1 more	Deletion	Linear skin defects with multiple congenital anomalies 1	GPathogenic