C5436574[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689949	NM_001353345.2(SETD1B):c.17C>G (p.Pro6Arg)	SETD1B (P6R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2438172	NM_001353345.2(SETD1B):c.62C>A (p.Ser21Ter)	SETD1B (S21*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with seizures and language delay	GPathogenic
Select item 1727208	NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)	SETD1B (R30K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435853	NM_001353345.2(SETD1B):c.273+2T>C	SETD1B	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435852	NM_001353345.2(SETD1B):c.931C>T (p.Arg311Trp)	SETD1B (R311W)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435847	NM_001353345.2(SETD1B):c.1004C>T (p.Ala335Val)	SETD1B (A335V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +1 more	GConflicting classifications of pathogenicity
Select item 2435854	NM_001353345.2(SETD1B):c.1424A>T (p.Glu475Val)	SETD1B (E475V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2433311	NM_001353345.2(SETD1B):c.2241del (p.Pro749fs)	SETD1B (P749fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 2435855	NM_001353345.2(SETD1B):c.2402C>T (p.Ala801Val)	SETD1B (A801V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435849	NM_001353345.2(SETD1B):c.2776G>C (p.Asp926His)	SETD1B (D926H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2115050	NM_001353345.2(SETD1B):c.3017C>A (p.Pro1006His)	SETD1B (P1006H)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay +2 more	GUncertain significance
Select item 2689950	NM_001353345.2(SETD1B):c.3671C>T (p.Ala1224Val)	SETD1B (A1224V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435848	NM_001353345.2(SETD1B):c.4133C>T (p.Thr1378Met)	SETD1B (T1378M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2433313	NM_001353345.2(SETD1B):c.4170del (p.Gly1392fs)	SETD1B (G1392fs)	Deletion (frameshift variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1696466	NM_001353345.2(SETD1B):c.4465G>A (p.Val1489Ile)	SETD1B (V1489I)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435850	NM_001353345.2(SETD1B):c.4630G>A (p.Ala1544Thr)	SETD1B (A1544T)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance
Select item 2435851	NM_001353345.2(SETD1B):c.4673C>A (p.Thr1558Asn)	SETD1B (T1558N)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GUncertain significance