"Invitae"[submitter] AND "CHMP4B"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772436	NM_176812.5(CHMP4B):c.191-5C>T	CHMP4B	Single nucleotide variant (intron variant)	CHMP4B-related condition +1 more	GBenign/Likely benign
Select item 2841293	NM_176812.5(CHMP4B):c.200A>G (p.Gln67Arg)	CHMP4B (Q67R)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GLikely pathogenic
Select item 1105604	NM_176812.5(CHMP4B):c.240G>A (p.Ala80=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GLikely benign
Select item 2188536	NM_176812.5(CHMP4B):c.270G>A (p.Glu90=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GBenign
Select item 2985085	NM_176812.5(CHMP4B):c.310G>A (p.Glu104Lys)	CHMP4B (E104K)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 1602809	NM_176812.5(CHMP4B):c.368+15G>A	CHMP4B	Single nucleotide variant (intron variant)	Cataract 31 multiple types	GLikely benign
Select item 2190916	NM_176812.5(CHMP4B):c.450G>A (p.Ser150=)	CHMP4B	Single nucleotide variant (synonymous variant)	Cataract 31 multiple types	GBenign
Select item 1473882	NM_176812.5(CHMP4B):c.481G>C (p.Glu161Gln)	CHMP4B (E161Q)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 534366	NM_176812.5(CHMP4B):c.558C>T (p.Pro186=)	CHMP4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 836756	NM_176812.5(CHMP4B):c.586T>G (p.Ser196Ala)	CHMP4B (S196A)	Single nucleotide variant (missense variant)	Cataract 31 multiple types	GUncertain significance
Select item 1457888	NC_000020.10:g.(?_31189994)_(34287210_?)del	ACSS2, ACTL10 +53 more	Deletion	not provided	GPathogenic
Select item 584348	NC_000020.10:g.(?_31996293)_(33338342_?)del	ASIP, C20orf144 +17 more	Deletion	Long QT syndrome	GUncertain significance
Select item 583982	NC_000020.10:g.(?_31996293)_(33761838_?)del	MAP1LC3A, MIR499A +25 more	Deletion	Long QT syndrome	GUncertain significance