C0238339[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 258914	NM_001379610.1(SPINK1):c.231G>A (p.Gly77=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 132716	NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)	SPINK1 (R67H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 440297	NM_001379610.1(SPINK1):c.195-21T>A	SPINK1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 239506	NM_001379610.1(SPINK1):c.194+184T>A	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign
Select item 445689	NM_001379610.1(SPINK1):c.194+90A>T	SPINK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258913	NM_001379610.1(SPINK1):c.174C>T (p.Cys58=)	SPINK1	Single nucleotide variant (synonymous variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 13760	NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)	SPINK1 (N34S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 239508	NM_001379610.1(SPINK1):c.88-23A>T	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis +2 more	GBenign/Likely benign
Select item 416320	NM_001379610.1(SPINK1):c.75C>T (p.Ser25=)	SPINK1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 239507	NM_001379610.1(SPINK1):c.56-37T>C	SPINK1	Single nucleotide variant (intron variant)	Hereditary pancreatitis +1 more	GBenign/Likely benign; risk factor
Select item 36781	NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe)	SPINK1 (L12F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 440295	NM_001379610.1(SPINK1):c.33C>T (p.Ala11=)	SPINK1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 258912	NM_001379610.1(SPINK1):c.-41G>A	SPINK1	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1052271	NM_002769.5(PRSS1):c.203G>T (p.Arg68Leu)	PRSS1, TRB (R68L)	Single nucleotide variant (missense variant)	Hereditary pancreatitis	GUncertain significance
Select item 416608	NM_002769.5(PRSS1):c.279C>T (p.Ile93=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 239391	NM_002769.5(PRSS1):c.486T>C (p.Asp162=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 416609	NM_002769.5(PRSS1):c.567T>C (p.Leu189=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 258800	NM_002769.5(PRSS1):c.592-11C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 416610	NM_002769.5(PRSS1):c.592-8C>T	PRSS1, TRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258803	NM_002769.5(PRSS1):c.738T>C (p.Asn246=)	PRSS1, TRB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

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Items: 20