ClinVar for MedGen (Select 167105) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065393	NM_005816.5(CD96):c.505T>C (p.Ser169Pro)	CD96 (S169P)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 2498215	NM_005816.5(CD96):c.1181-12T>C	CD96	Single nucleotide variant (intron variant)	C syndrome	GUncertain significance
Select item 2439821	NM_005816.5(CD96):c.1249+1G>A	CD96	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1646850	NM_005816.5(CD96):c.807+14A>C	CD96	Single nucleotide variant (intron variant)	C syndrome +1 more	GBenign/Likely benign
Select item 1199409	NM_005816.5(CD96):c.934del (p.Asp312fs)	CD96 (D312fs +1 more)	Deletion (frameshift variant +1 more)	C syndrome	GUncertain significance
Select item 1064615	NM_005816.5(CD96):c.544-1477_544-1459del	CD96	Deletion (splice donor variant +1 more)	C syndrome	GUncertain significance
Select item 1028428	NM_005816.5(CD96):c.794A>G (p.Asp265Gly)	CD96 (D265G +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 1028427	NM_005816.5(CD96):c.1618C>T (p.Pro540Ser)	CD96 (P540S +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 1028426	NM_005816.5(CD96):c.1390A>G (p.Asn464Asp)	CD96 (N464D +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GUncertain significance
Select item 816889	NM_005816.5(CD96):c.718dup (p.Ile240fs)	CD96 (I256fs +1 more)	Duplication (frameshift variant +1 more)	C syndrome	GUncertain significance
Select item 342589	NM_005816.5(CD96):c.*2094del	CD96	Deletion (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342587	NM_005816.5(CD96):c.2092_2093insGAAAGAA	CD96	Insertion (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342586	NM_005816.5(CD96):c.2092_2093insGAA	CD96	Insertion (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342585	NM_005816.5(CD96):c.2093_2097del	CD96	Deletion (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342584	NM_005816.5(CD96):c.*2093del	CD96	Deletion (3 prime UTR variant)	C syndrome	GBenign
Select item 342583	NM_005816.5(CD96):c.*2076del	CD96	Deletion (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342571	NM_005816.5(CD96):c.*1364G>A	CD96	Single nucleotide variant (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342566	NM_005816.5(CD96):c.*869G>C	CD96	Single nucleotide variant (3 prime UTR variant)	C syndrome	GLikely benign
Select item 342565	NM_005816.5(CD96):c.*844A>G	CD96	Single nucleotide variant (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 342552	NM_005816.5(CD96):c.*172G>T	CD96	Single nucleotide variant (3 prime UTR variant)	C syndrome	GUncertain significance
Select item 225311	NM_005816.5(CD96):c.54dup (p.Val19fs)	CD96 (V19fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4640	NM_005816.5(CD96):c.791C>T (p.Thr264Met)	CD96 (T280M +1 more)	Single nucleotide variant (missense variant +1 more)	C syndrome	GPathogenic
Select item 4639	46,XY t(3;18)(q13.13;q12.1)	CD96	Translocation	C syndrome	GPathogenic

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Items: 23