"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128842	NM_000096.4(CP):c.3182-4A>G	CP, HPS3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 343750	NM_000096.4(CP):c.2998G>A (p.Gly1000Ser)	CP (G1000S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 128841	NM_000096.4(CP):c.2991T>C (p.His997=)	CP, HPS3	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 194589	NM_000096.4(CP):c.2662-12T>C	CP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 210756	NM_000096.4(CP):c.2571C>T (p.Tyr857=)	CP	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 899707	NM_000096.4(CP):c.2554+8C>T	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase	GConflicting classifications of pathogenicity
Select item 284863	NM_000096.4(CP):c.2522C>G (p.Thr841Arg)	CP (T841R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 665392	NM_000096.4(CP):c.2446G>A (p.Val816Ile)	CP (V816I)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 343757	NM_000096.4(CP):c.2310G>A (p.Lys770=)	CP	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343758	NM_000096.4(CP):c.2286-14dup	CP	Duplication (intron variant)	Deficiency of ferroxidase +1 more	GConflicting classifications of pathogenicity
Select item 343760	NM_000096.4(CP):c.2286-15del	CP	Deletion (intron variant)	not provided +1 more	GBenign
Select item 42123	NM_000096.4(CP):c.2158C>T (p.Arg720Trp)	CP (R720W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 128838	NM_000096.4(CP):c.1950A>C (p.Gly650=)	CP	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 767292	NM_000096.4(CP):c.1945G>A (p.Ala649Thr)	CP (A649T)	Single nucleotide variant (missense variant)	Deficiency of ferroxidase	GLikely benign
Select item 42125	NM_000096.4(CP):c.1652C>T (p.Thr551Ile)	CP (T551I)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 198992	NM_000096.4(CP):c.1632A>T (p.Glu544Asp)	CP (E544D)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 343770	NM_000096.4(CP):c.1348+9T>C	CP	Single nucleotide variant (intron variant)	Deficiency of ferroxidase +1 more	GBenign/Likely benign
Select item 343772	NM_000096.4(CP):c.1275T>C (p.Tyr425=)	CP	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 343776	NM_000096.4(CP):c.1104G>C (p.Gly368=)	CP	Single nucleotide variant (synonymous variant +1 more)	CP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 343782	NM_000096.4(CP):c.788A>G (p.Asn263Ser)	CP (N263S)	Single nucleotide variant (missense variant +1 more)	Deficiency of ferroxidase	GUncertain significance
Select item 343783	NM_000096.4(CP):c.782-14C>T	CP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1166233	NM_000096.4(CP):c.394+20C>T	CP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 22