Related gene-specific medical variations for Gene (Select 1108) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3065316	NM_001273.5(CHD4):c.5695C>T (p.Arg1899Trp)	CHD4 (R1889W +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2584569	NM_001273.5(CHD4):c.5119+6G>C	CHD4	Single nucleotide variant (intron variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
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 2439989	NM_001273.5(CHD4):c.4883_4884del (p.Glu1628fs)	CHD4 (E1615fs +2 more)	Microsatellite (frameshift variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439988	NM_001273.5(CHD4):c.4810G>A (p.Asp1604Asn)	CHD4 (D1591N +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439987	NM_001273.5(CHD4):c.4138C>T (p.Arg1380Cys)	CHD4 (R1367C +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439985	NM_001273.5(CHD4):c.5472G>C (p.Glu1824Asp)	CHD4 (E1813D +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 2439063	NM_001273.5(CHD4):c.3017T>G (p.Val1006Gly)	CHD4 (V1006G +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1676558	NM_001273.5(CHD4):c.430G>T (p.Asp144Tyr)	CHD4 (D137Y +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1324066	NM_001273.5(CHD4):c.2313+2T>C	CHD4	Single nucleotide variant (splice donor variant)	Sifrim-Hitz-Weiss syndrome	GLikely pathogenic
Select item 1174082	NM_001273.5(CHD4):c.673_693del (p.Ser225_Ala231del)	CHD4	Deletion (inframe_deletion)	Global developmental delay	GUncertain significance
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 996999	NM_001273.5(CHD4):c.5669G>T (p.Arg1890Leu)	CHD4 (R1880L +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 975669	NM_001273.5(CHD4):c.85C>T (p.Pro29Ser)	CHD4 (P29S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931924	NM_001273.5(CHD4):c.4674A>G (p.Pro1558=)	CHD4	Single nucleotide variant (synonymous variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance
Select item 931910	NM_001273.5(CHD4):c.2478T>G (p.Asn826Lys)	CHD4 (N819K +2 more)	Single nucleotide variant (missense variant)	Sifrim-Hitz-Weiss syndrome	GUncertain significance