ClinVar for MedGen (Select 1788942) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066319	NM_001136157.2(OTUD5):c.1121A>G (p.Gln374Arg)	OTUD5 (Q157R +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 2524659	NM_001136157.2(OTUD5):c.58C>A (p.Pro20Thr)	OTUD5 (P20T)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 2434530	NM_001136157.2(OTUD5):c.657G>C (p.Lys219Asn)	OTUD5 (K219N +1 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 2434529	NM_001136157.2(OTUD5):c.1375C>A (p.His459Asn)	OTUD5 (H242N +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 2204087	NM_001136157.2(OTUD5):c.1543C>T (p.Arg515Trp)	OTUD5 (R520W +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked +2 more	GConflicting classifications of pathogenicity
Select item 1801720	NM_001136157.2(OTUD5):c.655A>G (p.Lys219Glu)	OTUD5 (K219E +1 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 1710154	NM_001136157.2(OTUD5):c.1511C>T (p.Pro504Leu)	OTUD5 (P287L +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 1699370	NM_001136157.2(OTUD5):c.491G>A (p.Gly164Asp)	OTUD5 (G164D)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 1696524	NM_001136157.2(OTUD5):c.151G>A (p.Asp51Asn)	OTUD5 (D51N)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GUncertain significance
Select item 1174501	NM_001136157.2(OTUD5):c.1477C>T (p.Gln493Ter)	OTUD5 (Q276* +2 more)	Single nucleotide variant (nonsense)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic
Select item 996326	NM_001136157.2(OTUD5):c.1195C>T (p.Arg399Trp)	OTUD5 (R404W +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic
Select item 996325	NM_001136157.2(OTUD5):c.820C>T (p.Arg274Trp)	OTUD5 (R274W +1 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic
Select item 996324	NM_001136157.2(OTUD5):c.1040T>C (p.Leu347Pro)	OTUD5 (L352P +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic
Select item 996323	NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser)	OTUD5 (G494S +2 more)	Single nucleotide variant (missense variant)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic
Select item 996322	NM_001136157.2(OTUD5):c.598G>A (p.Glu200Lys)	OTUD5 (E200K)	Single nucleotide variant (missense variant +1 more)	Multiple congenital anomalies-neurodevelopmental syndrome, X-linked	GPathogenic