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

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328615	NM_000095.3(COMP):c.1590C>A (p.Asp530Glu)	COMP (D530E)	Single nucleotide variant (missense variant)	COMP-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3040220	NM_000095.3(COMP):c.1587C>T (p.Thr529=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder	GLikely benign
Select item 1224307	NM_000095.3(COMP):c.1563G>A (p.Pro521=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 597740	NM_000095.3(COMP):c.1488C>A (p.Asp496Glu)	COMP (D496E)	Single nucleotide variant (missense variant)	COMP-related disorder +2 more	GBenign/Likely benign
Select item 3031010	NM_000095.3(COMP):c.1411G>C (p.Asp471His)	COMP (D471H)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 2632794	NM_000095.3(COMP):c.1384G>T (p.Asp462Tyr)	COMP (D462Y)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 2631497	NM_000095.3(COMP):c.1317C>A (p.Asp439Glu)	COMP (D439E)	Single nucleotide variant (missense variant)	COMP-related disorder	GLikely pathogenic
Select item 737996	NM_000095.3(COMP):c.1255-5C>T	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3039199	NM_000095.3(COMP):c.964C>T (p.Pro322Ser)	COMP (P322S)	Single nucleotide variant (missense variant)	COMP-related disorder	GUncertain significance
Select item 891982	NM_000095.3(COMP):c.924C>T (p.Ile308=)	COMP	Single nucleotide variant (synonymous variant)	COMP-related disorder +2 more	GBenign/Likely benign
Select item 2903589	NM_000095.3(COMP):c.686G>A (p.Cys229Tyr)	COMP (C229Y)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1369296	NM_000095.3(COMP):c.218-6C>A	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 328626	NM_000095.3(COMP):c.218-7C>G	COMP	Single nucleotide variant (intron variant)	COMP-related disorder +4 more	GConflicting classifications of pathogenicity