"Baylor Genetics"[submitter] AND "CHD4"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033399	NM_001273.5(CHD4):c.4982-11A>G	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	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 2497818	NM_001273.5(CHD4):c.4621C>G (p.Pro1541Ala)	CHD4 (P1528A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030328	NM_001273.5(CHD4):c.3977A>T (p.Gln1326Leu)	CHD4 (Q1319L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1030327	NM_001273.5(CHD4):c.3548G>A (p.Arg1183His)	CHD4 (R1170H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1030326	NM_001273.5(CHD4):c.3539T>G (p.Val1180Gly)	CHD4 (V1167G +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1030325	NM_001273.5(CHD4):c.3517C>T (p.Arg1173Trp)	CHD4 (R1160W +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1033398	NM_001273.5(CHD4):c.3308A>C (p.Asn1103Thr)	CHD4 (N1096T +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 266124	NM_001273.5(CHD4):c.3203G>A (p.Arg1068His)	CHD4 (R1068H +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome +1 more	GPathogenic
Select item 2441891	NM_001273.5(CHD4):c.995C>T (p.Ser332Phe)	CHD4 (S325F +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1030329	NM_001273.5(CHD4):c.446A>T (p.Lys149Ile)	CHD4 (K142I +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 3238839	NM_001273.5(CHD4):c.244C>G (p.Leu82Val)	CHD4 (L75V +1 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1033397	NM_001273.5(CHD4):c.239G>A (p.Arg80Gln)	CHD4 (R80Q)	Single nucleotide variant (missense variant +1 more)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 1033396	NM_001273.5(CHD4):c.100+11C>G	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic