"CHD4-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633407	NM_001273.5(CHD4):c.5695C>G (p.Arg1899Gly)	CHD4 (R1889G +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 3030743	NM_001273.5(CHD4):c.5558-9C>T	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 3037369	NM_001273.5(CHD4):c.5362-3C>T	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 770409	NM_001273.5(CHD4):c.5292T>C (p.Pro1764=)	CHD4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 3053892	NM_001273.5(CHD4):c.5289G>A (p.Glu1763=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 2208744	NM_001273.5(CHD4):c.5285A>G (p.Asn1762Ser)	CHD4 (N1755S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 982182	NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys)	CHD4 (Y1747C +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 761282	NM_001273.5(CHD4):c.5229-3T>C	CHD4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 789212	NM_001273.5(CHD4):c.5217C>T (p.Ala1739=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder +1 more	GBenign/Likely benign
Select item 728490	NM_001273.5(CHD4):c.5178T>C (p.Tyr1726=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2629324	NM_001273.5(CHD4):c.4801G>T (p.Ala1601Ser)	CHD4 (A1588S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 1030330	NM_001273.5(CHD4):c.4780T>C (p.Cys1594Arg)	CHD4 (C1587R +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GUncertain significance
Select item 3056524	NM_001273.5(CHD4):c.4780-4del	CHD4	Deletion (intron variant)	CHD4-related disorder	GLikely benign
Select item 742040	NM_001273.5(CHD4):c.4515+6C>T	CHD4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3053308	NM_001273.5(CHD4):c.4288C>T (p.Arg1430Ter)	CHD4 (R1417* +2 more)	Single nucleotide variant (nonsense)	CHD4-related disorder	GUncertain significance
Select item 1420880	NM_001273.5(CHD4):c.4281A>C (p.Ala1427=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029223	NM_001273.5(CHD4):c.4092C>A (p.Ser1364=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 3033659	NM_001273.5(CHD4):c.3704-4A>C	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 2966857	NM_001273.5(CHD4):c.3585G>A (p.Thr1195=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder +1 more	GLikely benign
Select item 2637282	NM_001273.5(CHD4):c.3509T>C (p.Met1170Thr)	CHD4 (M1157T +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 3029660	NM_001273.5(CHD4):c.3401A>G (p.Asn1134Ser)	CHD4 (N1121S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GLikely pathogenic
Select item 1510663	NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr)	CHD4 (I1096T +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2633887	NM_001273.5(CHD4):c.3202C>A (p.Arg1068Ser)	CHD4 (R1055S +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GLikely pathogenic
Select item 1372628	NM_001273.5(CHD4):c.3088A>G (p.Met1030Val)	CHD4 (M1030V +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3040982	NM_001273.5(CHD4):c.2856G>A (p.Pro952=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 3047348	NM_001273.5(CHD4):c.2713T>C (p.Leu905=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 3046274	NM_001273.5(CHD4):c.2706G>C (p.Gly902=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 745855	NM_001273.5(CHD4):c.2692C>T (p.Leu898=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 713993	NM_001273.5(CHD4):c.2610C>T (p.Leu870=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder +1 more	GBenign/Likely benign
Select item 1613129	NM_001273.5(CHD4):c.2409C>T (p.Val803=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder +1 more	GLikely benign
Select item 1963359	NM_001273.5(CHD4):c.2125A>G (p.Thr709Ala)	CHD4 (T696A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3031788	NM_001273.5(CHD4):c.2034G>A (p.Met678Ile)	CHD4 (M665I +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 1443437	NM_001273.5(CHD4):c.2025-3T>C	CHD4	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 733701	NM_001273.5(CHD4):c.1686+9A>G	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder +1 more	GBenign/Likely benign
Select item 2636690	NM_001273.5(CHD4):c.1607A>T (p.Glu536Val)	CHD4 (E523V +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +1 more	GUncertain significance
Select item 3051934	NM_001273.5(CHD4):c.1506G>A (p.Val502=)	CHD4	Single nucleotide variant (synonymous variant)	CHD4-related disorder	GLikely benign
Select item 1573678	NM_001273.5(CHD4):c.1483-5C>T	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder +1 more	GBenign
Select item 2630626	NM_001273.5(CHD4):c.1310T>C (p.Val437Ala)	CHD4 (V424A +2 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 3058035	NM_001273.5(CHD4):c.1243-6C>T	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 3058619	NM_001273.5(CHD4):c.1242+8_1242+11del	CHD4	Deletion (intron variant)	CHD4-related disorder	GLikely benign
Select item 761283	NM_001273.5(CHD4):c.1209G>A (p.Lys403=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1581944	NM_001273.5(CHD4):c.1064G>A (p.Gly355Asp)	CHD4 (G348D +1 more)	Single nucleotide variant (missense variant +1 more)	CHD4-related disorder +1 more	GLikely benign
Select item 2635329	NM_001273.5(CHD4):c.979A>T (p.Asn327Tyr)	CHD4 (N320Y +1 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 3058201	NM_001273.5(CHD4):c.799+7T>C	CHD4	Single nucleotide variant (intron variant)	CHD4-related disorder	GLikely benign
Select item 746216	NM_001273.5(CHD4):c.687G>A (p.Ala229=)	CHD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2642630	NM_001273.5(CHD4):c.418GAT[4] (p.Asp144del)	CHD4 (D137del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 715881	NM_001273.5(CHD4):c.420T>G (p.Asp140Glu)	CHD4 (D133E +1 more)	Single nucleotide variant (missense variant)	CHD4-related disorder +2 more	GBenign
Select item 1509624	NM_001273.5(CHD4):c.399GGA[6] (p.Glu139del)	CHD4 (E132del +1 more)	Microsatellite (inframe_deletion)	CHD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3055242	NM_001273.5(CHD4):c.340AAG[5] (p.Lys119del)	CHD4 (K112del +1 more)	Microsatellite (inframe deletion)	CHD4-related disorder	GLikely benign
Select item 2628931	NM_001273.5(CHD4):c.247G>A (p.Gly83Arg)	CHD4 (G76R +1 more)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance
Select item 2892274	NM_001273.5(CHD4):c.231C>T (p.Leu77=)	CHD4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3053699	NM_001273.5(CHD4):c.212A>G (p.Gln71Arg)	CHD4 (Q71R)	Single nucleotide variant (missense variant)	CHD4-related disorder	GUncertain significance

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Items: 52