"PreventionGenetics, part of Exact Sciences"[submitter] AND "CHD3"[gen - ClinVar

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

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055294	NM_001005273.3(CHD3):c.8C>T (p.Ala3Val)	CHD3 (A3V)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GBenign
Select item 3050085	NM_001005273.3(CHD3):c.67C>T (p.Pro23Ser)	CHD3 (P23S)	Single nucleotide variant (missense variant +1 more)	CHD3-related disorder	GLikely benign
Select item 2628956	NM_001005273.3(CHD3):c.75_76delinsGTGACAGGA (p.Leu26Ter)	CHD3 (L26*)	Indel (nonsense +1 more)	CHD3-related disorder	GLikely pathogenic
Select item 2429975	NM_001005273.3(CHD3):c.107A>T (p.Asp36Val)	CHD3 (D36V +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder +1 more	GConflicting classifications of pathogenicity
Select item 3044891	NM_001005273.3(CHD3):c.214-9T>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3037427	NM_001005273.3(CHD3):c.633G>A (p.Ala211=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 1694826	NM_001005273.3(CHD3):c.711C>G (p.Ser237=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder +1 more	GBenign
Select item 3042436	NM_001005273.3(CHD3):c.720C>T (p.Pro240=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 2647423	NM_001005273.3(CHD3):c.721G>A (p.Ala241Thr)	CHD3 (A241T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2647424	NM_001005273.3(CHD3):c.793+4G>A	CHD3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3056554	NM_001005273.3(CHD3):c.793+10T>A	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GBenign
Select item 3032672	NM_001005273.3(CHD3):c.842G>A (p.Arg281His)	CHD3, LOC126862484 (R281H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3057398	NM_001005273.3(CHD3):c.924+6dup	CHD3, LOC126862484	Duplication (intron variant)	CHD3-related disorder	GLikely benign
Select item 2241299	NM_001005273.3(CHD3):c.977T>A (p.Leu326Gln)	CHD3, LOC126862484 (L385Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2567607	NM_001005273.3(CHD3):c.1235G>A (p.Arg412Gln)	CHD3, LOC126862484 (R471Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3051581	NM_001005273.3(CHD3):c.1381G>A (p.Val461Ile)	CHD3 (V461I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2631119	NM_001005273.3(CHD3):c.1580C>G (p.Pro527Arg)	CHD3 (P527R +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3047878	NM_001005273.3(CHD3):c.1616C>G (p.Pro539Arg)	CHD3 (P539R +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 2632907	NM_001005273.3(CHD3):c.1646_1647del (p.Glu549fs)	CHD3 (E549fs +1 more)	Microsatellite (frameshift variant)	CHD3-related disorder	GLikely pathogenic
Select item 781253	NM_001005273.3(CHD3):c.1815C>T (p.Asp605=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2636724	NM_001005273.3(CHD3):c.1820G>A (p.Arg607His)	CHD3 (R607H +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3055117	NM_001005273.3(CHD3):c.1896C>T (p.Thr632=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 2647428	NM_001005273.3(CHD3):c.2085C>A (p.Pro695=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3050516	NM_001005273.3(CHD3):c.2148T>C (p.Asn716=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3052807	NM_001005273.3(CHD3):c.2232G>A (p.Leu744=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 2471929	NM_001005273.3(CHD3):c.2344-4C>T	CHD3	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3041931	NM_001005273.3(CHD3):c.2344-3C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 2631023	NM_001005273.3(CHD3):c.2627G>T (p.Arg876Leu)	CHD3 (R876L +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3051004	NM_001005273.3(CHD3):c.2742A>G (p.Pro914=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3031695	NM_001005273.3(CHD3):c.3028C>T (p.Arg1010Ter)	CHD3 (R1010* +1 more)	Single nucleotide variant (nonsense)	CHD3-related disorder	GLikely pathogenic
Select item 2277898	NM_001005273.3(CHD3):c.3174G>A (p.Ser1058=)	CHD3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3030750	NM_001005273.3(CHD3):c.3221A>G (p.Glu1074Gly)	CHD3 (E1074G +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 788747	NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3038116	NM_001005273.3(CHD3):c.3462T>C (p.Phe1154=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3035064	NM_001005273.3(CHD3):c.3798G>A (p.Arg1266=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3054905	NM_001005273.3(CHD3):c.3805G>C (p.Asp1269His)	CHD3 (D1269H +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 2633249	NM_001005273.3(CHD3):c.3865G>A (p.Ala1289Thr)	CHD3 (A1289T +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 3035512	NM_001005273.3(CHD3):c.3873C>T (p.Tyr1291=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 2635258	NM_001005273.3(CHD3):c.4034del (p.Lys1345fs)	CHD3 (K1345fs +1 more)	Deletion (frameshift variant)	CHD3-related disorder	GLikely pathogenic
Select item 3042191	NM_001005273.3(CHD3):c.4092G>A (p.Ser1364=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 982879	NM_001005273.3(CHD3):c.4357_4358+2del	CHD3	Deletion (splice donor variant)	CHD3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3047603	NM_001005273.3(CHD3):c.4358+7G>A	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 2637217	NM_001005273.3(CHD3):c.4472G>A (p.Arg1491His)	CHD3 (R1491H +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GUncertain significance
Select item 2647431	NM_001005273.3(CHD3):c.4569C>T (p.Ala1523=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3041379	NM_001005273.3(CHD3):c.4641C>G (p.Thr1547=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3035975	NM_001005273.3(CHD3):c.4666+7A>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3037059	NM_001005273.3(CHD3):c.4667-7C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3035943	NM_001005273.3(CHD3):c.4735C>G (p.Gln1579Glu)	CHD3 (Q1579E +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 3049260	NM_001005273.3(CHD3):c.4789-10C>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GBenign
Select item 3047835	NM_001005273.3(CHD3):c.4870G>T (p.Val1624Leu)	CHD3 (V1624L +1 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 2647432	NM_001005273.3(CHD3):c.4872G>T (p.Val1624=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder +1 more	GLikely benign
Select item 3036615	NM_001005273.3(CHD3):c.4925-10C>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 1700227	NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	CHD3 (D1671fs +1 more)	Deletion (frameshift variant +1 more)	Snijders Blok-Campeau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2439979	NM_001005273.3(CHD3):c.5027-3C>T	CHD3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3057310	NM_001005273.3(CHD3):c.5045G>A (p.Arg1682Gln)	CHD3 (R1648Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3042207	NM_001005273.3(CHD3):c.5136C>T (p.Ala1712=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 3053423	NM_001005273.3(CHD3):c.5139T>C (p.Asp1713=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GBenign
Select item 3048894	NM_001005273.3(CHD3):c.5262-9C>T	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3034503	NM_001005273.3(CHD3):c.5448G>A (p.Leu1816=)	CHD3	Single nucleotide variant (synonymous variant)	CHD3-related disorder	GLikely benign
Select item 790176	NM_001005273.3(CHD3):c.5591-10C>T	CHD3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3051872	NM_001005273.3(CHD3):c.5755-10T>G	CHD3	Single nucleotide variant (intron variant)	CHD3-related disorder	GLikely benign
Select item 3036533	NM_001005273.3(CHD3):c.5765C>T (p.Pro1922Leu)	CHD3 (P1888L +2 more)	Single nucleotide variant (missense variant)	CHD3-related disorder	GLikely benign
Select item 1175902	NM_001005273.3(CHD3):c.5798C>T (p.Ala1933Val)	CHD3 (A1899V +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2647441	NM_001005273.3(CHD3):c.5835C>T (p.Ala1945=)	CHD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1675173	NM_001005273.3(CHD3):c.5950G>A (p.Gly1984Arg)	CHD3 (G1950R +2 more)	Single nucleotide variant (missense variant)	Snijders Blok-Campeau syndrome +1 more	GConflicting classifications of pathogenicity

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: 65