Related gene-specific medical variations for Gene (Select 26038) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067854	NM_015557.3(CHD5):c.5047A>C (p.Asn1683His)	CHD5 (N1683H)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3065865	NM_015557.3(CHD5):c.2916C>A (p.Asn972Lys)	CHD5 (N972K)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3065712	NM_015557.3(CHD5):c.2453A>G (p.Lys818Arg)	CHD5 (K818R)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 2672145	NM_015557.3(CHD5):c.4640C>T (p.Pro1547Leu)	CHD5 (P1547L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 2582553	NM_015557.3(CHD5):c.4319G>T (p.Gly1440Val)	CHD5 (G1440V)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 2575947	NM_015557.3(CHD5):c.2247A>C (p.Lys749Asn)	CHD5 (K749N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497742	NM_015557.3(CHD5):c.1490_1496del (p.Leu497fs)	CHD5 (L497fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2441727	NM_015557.3(CHD5):c.146A>C (p.Lys49Thr)	CHD5 (K49T)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 1701636	NM_015557.3(CHD5):c.3779C>T (p.Ala1260Val)	CHD5 (A1260V)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 1700078	NM_015557.3(CHD5):c.4171+1G>A	CHD5	Single nucleotide variant (splice donor variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696598	NM_015557.3(CHD5):c.2926G>T (p.Gly976Cys)	CHD5 (G976C)	Single nucleotide variant (missense variant)	CHD5-associated Neurodevelopmental disorder	GUncertain significance
Select item 1342521	NM_015557.3(CHD5):c.5204T>A (p.Ile1735Asn)	CHD5 (I1735N)	Single nucleotide variant (missense variant)	CHD5-related Neurodevelopmental disorder	GUncertain significance
Select item 1342418	NM_015557.3(CHD5):c.2043+4A>T	CHD5	Single nucleotide variant (intron variant)	Harel-Yoon syndrome	GUncertain significance