C0013261[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024399	NM_005735.4(ACTR1B):c.1006C>G (p.Arg336Gly)	ACTR1B (R336G)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3024400	NM_005735.4(ACTR1B):c.633T>A (p.Phe211Leu)	ACTR1B (F211L)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3024402	NM_004522.3(KIF5C):c.2615C>T (p.Thr872Met)	KIF5C (T872M)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024401	NM_004522.3(KIF5C):c.2680C>T (p.Arg894Cys)	KIF5C (R894C)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 17446	NM_000094.4(COL7A1):c.6091G>A (p.Gly2031Ser)	COL7A1 (G2031S)	Single nucleotide variant (missense variant)	Duane retraction syndrome +8 more	GConflicting classifications of pathogenicity
Select item 3061823	NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)	FOXL2 (P318Q)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3024397	NM_005246.4(FER):c.1883C>T (p.Thr628Ile)	FER (T259I +2 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024398	NM_005246.4(FER):c.1887A>C (p.Gln629His)	FER (Q260H +2 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024404	NM_181552.4(CUX1):c.691A>G (p.Met231Val)	CUX1 (M196V +4 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 1676075	NM_181552.4(CUX1):c.3760G>A (p.Glu1254Lys)	CUX1 (E1254K +1 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome +1 more	GUncertain significance
Select item 2674591	NM_181552.4(CUX1):c.3820A>G (p.Ile1274Val)	CUX1 (I1274V +1 more)	Single nucleotide variant (missense variant +1 more)	Duane retraction syndrome +1 more	GUncertain significance
Select item 3061835	NM_002834.5(PTPN11):c.1565T>C (p.Ile522Thr)	PTPN11 (I521T +2 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 3024405	NM_016592.5(GNAS):c.304G>C (p.Glu102Gln)	GNAS, GNAS-AS1 (E102Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 3024406	NM_016592.5(GNAS):c.713G>A (p.Gly238Glu)	GNAS, GNAS-AS1 (G238E)	Single nucleotide variant (5 prime UTR variant +1 more)	Duane retraction syndrome	GUncertain significance
Select item 2355015	NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)	GNAS (P531S)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3024407	NM_080425.4(GNAS):c.1717G>C (p.Asp573His)	GNAS (D573H)	Single nucleotide variant (synonymous variant +2 more)	Duane retraction syndrome	GUncertain significance
Select item 3061828	NM_018943.3(TUBA8):c.512T>G (p.Ile171Ser)	TUBA8 (I105S +1 more)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance