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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382657	NM_015557.3(CHD5):c.2552G>A (p.Arg851His)	CHD5 (R851H)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3362738	NM_015557.3(CHD5):c.3644C>T (p.Pro1215Leu)	CHD5 (P1215L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3362289	NM_015557.3(CHD5):c.1716C>A (p.Asp572Glu)	CHD5 (D572E)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
Select item 3362288	NM_015557.3(CHD5):c.1732A>T (p.Met578Leu)	CHD5 (M578L)	Single nucleotide variant (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3360047	NM_015557.3(CHD5):c.1717C>T (p.Pro573Ser)	CHD5 (P573S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251946	NM_015557.3(CHD5):c.5596_5597delinsTT (p.Glu1866Leu)	CHD5 (E1866L)	Indel (missense variant)	Parenti-mignot neurodevelopmental syndrome	GLikely pathogenic
Select item 3236602	NM_015557.3(CHD5):c.79+5G>A	CHD5	Single nucleotide variant (intron variant)	Parenti-mignot neurodevelopmental syndrome	GUncertain significance
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)	not provided +1 more	GUncertain significance

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Links from Gene

Items: 20