C3554373[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440016	NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)	CHD8 (M2150I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1497702	NM_001170629.2(CHD8):c.7117A>G (p.Lys2373Glu)	CHD8 (K2094E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1755467	NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2440010	NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)	CHD8 (S1900del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440008	NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)	CHD8 (G1856R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1254644	NM_001170629.2(CHD8):c.6243TTC[3] (p.Ser2094del)	CHD8 (S1815del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440004	NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)	CHD8 (Y1762C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440011	NM_001170629.2(CHD8):c.5894T>A (p.Met1965Lys)	CHD8 (M1686K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2440015	NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)	CHD8 (D1667A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 981314	NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)	CHD8 (R1555* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 2440003	NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)	CHD8 (S1480C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2439084	NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)	CHD8 (R1394* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly +1 more	GPathogenic/Likely pathogenic
Select item 2440012	NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)	CHD8 (T1126M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440007	NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)	CHD8 (P476S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440013	NM_001170629.2(CHD8):c.2105A>G (p.Lys702Arg)	CHD8 (K423R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 2440009	NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)	CHD8 (S358N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1780600	NM_001170629.2(CHD8):c.1811T>C (p.Val604Ala)	CHD8 (V325A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 2440014	NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)	CHD8 (R303Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 284182	NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	CHD8 (G163E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1678816	NM_001170629.2(CHD8):c.1315C>T (p.His439Tyr)	CHD8 (H160Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439079	NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)	CHD8 (P368fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1350253	NM_001170629.2(CHD8):c.1093C>G (p.Gln365Glu)	CHD8 (Q365E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 930650	NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)	CHD8 (V344M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 2440005	NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)	CHD8 (Q21P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440006	NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)	CHD8 (P213S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25