"CHD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2655604	NM_001270.4(CHD1):c.4949C>T (p.Thr1650Met)	CHD1 (T1650M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 787038	NM_001270.4(CHD1):c.4855T>C (p.Leu1619=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2655605	NM_001270.4(CHD1):c.4854T>C (p.Asn1618=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2655607	NM_001270.4(CHD1):c.4681C>T (p.His1561Tyr)	CHD1 (H1561Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2394573	NM_001270.4(CHD1):c.4579G>A (p.Val1527Met)	CHD1 (V1527M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2629580	NM_001270.4(CHD1):c.4577-7C>A	CHD1	Single nucleotide variant (intron variant)	CHD1-related disorder	GUncertain significance
Select item 3035532	NM_001270.4(CHD1):c.4562T>C (p.Val1521Ala)	CHD1 (V1521A +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GLikely benign
Select item 3058813	NM_001270.4(CHD1):c.4535A>G (p.Asp1512Gly)	CHD1 (D1512G +1 more)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GLikely benign
Select item 3053862	NM_001270.4(CHD1):c.4008T>G (p.Ala1336=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	CHD1-related disorder	GLikely benign
Select item 2655610	NM_001270.4(CHD1):c.3921C>T (p.Asp1307=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2655613	NM_001270.4(CHD1):c.3507A>G (p.Gly1169=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2630827	NM_001270.4(CHD1):c.3247A>G (p.Asn1083Asp)	CHD1 (N1083D)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 2632978	NM_001270.4(CHD1):c.2499A>C (p.Arg833Ser)	CHD1 (R833S)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 3059935	NM_001270.4(CHD1):c.2302C>T (p.Pro768Ser)	CHD1 (P768S)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 2655616	NM_001270.4(CHD1):c.2235C>T (p.Thr745=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3058666	NM_001270.4(CHD1):c.1779T>C (p.Tyr593=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	CHD1-related disorder	GLikely benign
Select item 3042175	NM_001270.4(CHD1):c.1725A>G (p.Glu575=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	CHD1-related disorder	GLikely benign
Select item 2629911	NM_001270.4(CHD1):c.1426C>T (p.His476Tyr)	CHD1 (H476Y)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 3033802	NM_001270.4(CHD1):c.1388T>C (p.Phe463Ser)	CHD1 (F463S)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GUncertain significance
Select item 3043656	NM_001270.4(CHD1):c.828A>G (p.Arg276=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	CHD1-related disorder	GLikely benign
Select item 3061572	NM_001270.4(CHD1):c.398A>G (p.Asp133Gly)	CHD1 (D133G)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder	GLikely benign
Select item 1675988	NM_001270.4(CHD1):c.396C>T (p.Ser132=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2655624	NM_001270.4(CHD1):c.286G>A (p.Val96Ile)	CHD1 (V96I)	Single nucleotide variant (missense variant +1 more)	CHD1-related disorder +1 more	GBenign
Select item 3049992	NM_001270.4(CHD1):c.256-4A>G	CHD1	Single nucleotide variant (intron variant)	CHD1-related disorder	GLikely benign

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Items: 24