C3810406[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323579	NM_001080517.3(SETD5):c.889_890del (p.Leu297fs)	SETD5 (L199fs +1 more)	Microsatellite (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GPathogenic
Select item 1325055	NM_001080517.3(SETD5):c.891delinsAAG (p.Ile298fs)	SETD5 (I200fs +1 more)	Indel (frameshift variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 450307	NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp)	SETD5 (R348W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 1476892	NM_001080517.3(SETD5):c.1340A>G (p.Lys447Arg)	SETD5 (K349R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2690484	NM_001080517.3(SETD5):c.1451A>G (p.Asn484Ser)	SETD5 (N386S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely benign
Select item 2435873	NM_001080517.3(SETD5):c.1976C>G (p.Pro659Arg)	SETD5 (P561R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1325054	NM_001080517.3(SETD5):c.2104-1G>T	SETD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GLikely pathogenic
Select item 2435875	NM_001080517.3(SETD5):c.2228T>C (p.Ile743Thr)	SETD5 (I645T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2435871	NM_001080517.3(SETD5):c.2321A>G (p.Asp774Gly)	SETD5 (D676G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1031047	NM_001080517.3(SETD5):c.2346+3A>G	SETD5	Single nucleotide variant (intron variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 2689951	NM_001080517.3(SETD5):c.2395G>A (p.Val799Ile)	SETD5 (V701I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	GUncertain significance
Select item 1182565	NM_001080517.3(SETD5):c.2614G>C (p.Gly872Arg)	SETD5 (G774R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2435874	NM_001080517.3(SETD5):c.2641T>A (p.Cys881Ser)	SETD5 (C783S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GUncertain significance
Select item 493356	NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter)	SETD5 (R882* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1353131	NM_001080517.3(SETD5):c.2878A>G (p.Ser960Gly)	SETD5 (S960G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2200969	NM_001080517.3(SETD5):c.2977A>G (p.Met993Val)	SETD5 (M895V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 2435870	NM_001080517.3(SETD5):c.3326A>G (p.Asp1109Gly)	SETD5 (D1011G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1612118	NM_001080517.3(SETD5):c.3458C>T (p.Ser1153Leu)	SETD5 (S1055L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429547	NM_001080517.3(SETD5):c.3647A>G (p.Glu1216Gly)	SETD5 (E1216G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance