C1969562[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373711	NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)	MBD5 (C7S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 206064	NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)	MBD5 (T295S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 206065	NM_001378120.1(MBD5):c.961A>G (p.Met321Val)	MBD5 (M321V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 536675	NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)	MBD5 (V400I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1037268	NM_001378120.1(MBD5):c.1259G>A (p.Gly420Glu)	MBD5 (G420E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 513684	NM_001378120.1(MBD5):c.1489A>G (p.Ile497Val)	MBD5 (I497V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 536680	NM_001378120.1(MBD5):c.1537G>A (p.Asp513Asn)	MBD5 (D513N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GConflicting classifications of pathogenicity
Select item 1094926	NM_001378120.1(MBD5):c.1663C>A (p.Pro555Thr)	MBD5 (P555T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GConflicting classifications of pathogenicity
Select item 833956	NM_001378120.1(MBD5):c.2109G>C (p.Gln703His)	MBD5 (Q703H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GConflicting classifications of pathogenicity
Select item 2433663	NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)	MBD5 (V769I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2433661	NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)	MBD5 (N805I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 845870	NM_001378120.1(MBD5):c.2569G>A (p.Ala857Thr)	MBD5 (A857T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95902	NM_001378120.1(MBD5):c.2711G>A (p.Ser904Asn)	MBD5 (S904N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 206091	NM_001378120.1(MBD5):c.3680C>T (p.Ala1227Val)	MBD5 (A994V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433659	NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)	MBD5 (N1007D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433657	NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)	MBD5 (H1154R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433662	NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)	MBD5 (R1230W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433660	NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)	MBD5 (I1247T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 374769	NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys)	MBD5 (Y1269C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 653248	NM_001378120.1(MBD5):c.4519A>G (p.Met1507Val)	MBD5 (M1274V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance

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Items: 20