Related gene-specific medical variations for Gene (Select 26277) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236558	NM_012461.3(TINF2):c.*259GT[2]	TINF2	Microsatellite (3 prime UTR variant +1 more)	Dyskeratosis congenita, autosomal dominant 3	GUncertain significance
Select item 3001449	NM_001099274.3(TINF2):c.73G>A (p.Gly25Arg)	LOC130055403, TINF2 (G25R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2982058	NM_001099274.3(TINF2):c.93T>G (p.Phe31Leu)	LOC130055403, TINF2 (F31L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2846632	NM_001099274.3(TINF2):c.138T>C (p.Pro46=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2733451	NM_001099274.3(TINF2):c.192+9G>A	LOC130055403, TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2709565	NM_001099274.3(TINF2):c.95C>T (p.Pro32Leu)	LOC130055403, TINF2 (P32L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2584667	NM_001099274.3(TINF2):c.1338_1339del (p.Asp446fs)	TINF2 (D411fs +1 more)	Deletion (frameshift variant +1 more)	Revesz syndrome	GUncertain significance
Select item 2581871	NM_001099274.3(TINF2):c.136C>T (p.Pro46Ser)	LOC130055403, TINF2 (P46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437095	NM_001099274.3(TINF2):c.186G>A (p.Lys62=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2437094	NM_001099274.3(TINF2):c.851C>A (p.Thr284Lys)	TINF2 (T249K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437093	NM_001099274.3(TINF2):c.1082T>C (p.Met361Thr)	TINF2 (M326T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2163431	NM_001099274.3(TINF2):c.63G>A (p.Gln21=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2163430	NM_001099274.3(TINF2):c.120T>C (p.Ser40=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2162115	NM_001099274.3(TINF2):c.64G>A (p.Val22Ile)	LOC130055403, TINF2 (V22I)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2071846	NM_001099274.3(TINF2):c.138del (p.Gly47fs)	LOC130055403, TINF2 (G47fs)	Deletion (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 2068346	NM_001099274.3(TINF2):c.126C>T (p.Arg42=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2048176	NM_001099274.3(TINF2):c.82G>C (p.Val28Leu)	LOC130055403, TINF2 (V28L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2047435	NM_001099274.3(TINF2):c.131T>C (p.Val44Ala)	TINF2, LOC130055403 (V44A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2001205	NM_001099274.3(TINF2):c.169del (p.Leu57fs)	LOC130055403, TINF2 (L57fs)	Deletion (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 1692545	NM_001099274.3(TINF2):c.146T>C (p.Val49Ala)	LOC130055403, TINF2 (V49A)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1569421	NM_001099274.3(TINF2):c.192+13G>A	LOC130055403, TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1507998	NM_001099274.3(TINF2):c.176T>C (p.Met59Thr)	LOC130055403, TINF2 (M59T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1483521	NM_001099274.3(TINF2):c.144G>C (p.Leu48Phe)	LOC130055403, TINF2 (L48F)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1467172	NM_001099274.3(TINF2):c.128C>A (p.Ala43Asp)	LOC130055403, TINF2 (A43D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1431261	NM_001099274.3(TINF2):c.144_145insTT (p.Val49fs)	LOC130055403, TINF2 (V49fs)	Insertion (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 1422121	NM_001099274.3(TINF2):c.166C>G (p.Arg56Gly)	LOC130055403, TINF2 (R56G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1402923	NM_001099274.3(TINF2):c.131T>A (p.Val44Asp)	LOC130055403, TINF2 (V44D)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1337860	NM_001099274.3(TINF2):c.83T>A (p.Val28Glu)	TINF2, LOC130055403 (V28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1249976	NM_001099274.3(TINF2):c.192+58C>T	LOC130055403, TINF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1109149	NM_001099274.3(TINF2):c.69G>A (p.Val23=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 1057678	NM_001099274.3(TINF2):c.70C>T (p.Arg24Cys)	LOC130055403, TINF2 (R24C)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1052166	NM_001099274.3(TINF2):c.104T>C (p.Leu35Pro)	LOC130055403, TINF2 (L35P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1023969	NM_001099274.3(TINF2):c.73G>C (p.Gly25Arg)	LOC130055403, TINF2 (G25R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 1003577	NM_001099274.3(TINF2):c.79T>C (p.Cys27Arg)	LOC130055403, TINF2 (C27R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 964587	NM_001099274.3(TINF2):c.163G>A (p.Glu55Lys)	TINF2, LOC130055403 (E55K)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 941440	NM_001099274.3(TINF2):c.141C>T (p.Gly47=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 933741	NM_001099274.3(TINF2):c.167G>A (p.Arg56His)	LOC130055403, TINF2 (R56H)	Single nucleotide variant (missense variant)	TINF2-related disorder +2 more	GUncertain significance
Select item 883384	NM_001099274.3(TINF2):c.-233T>G	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GUncertain significance
Select item 882601	NM_001099274.3(TINF2):c.-130A>G	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GUncertain significance
Select item 760336	NM_001099274.3(TINF2):c.129T>C (p.Ala43=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 639361	NM_001099274.3(TINF2):c.115C>G (p.Arg39Gly)	LOC130055403, TINF2 (R39G)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 577018	NM_001099274.3(TINF2):c.127G>A (p.Ala43Thr)	LOC130055403, TINF2 (A43T)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 529203	NM_001099274.3(TINF2):c.159C>T (p.His53=)	LOC130055403, TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 417880	NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)	TINF2, LOC130055403 (C27*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312966	NM_001099274.3(TINF2):c.-266G>A	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +2 more	GBenign/Likely benign
Select item 312965	NM_001099274.3(TINF2):c.-260G>C	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GBenign/Likely benign
Select item 312964	NM_001099274.3(TINF2):c.-225G>A	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GBenign
Select item 312963	NM_001099274.3(TINF2):c.-223C>G	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 312962	NM_001099274.3(TINF2):c.-172A>C	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GBenign
Select item 312961	NM_001099274.3(TINF2):c.-161G>A	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GLikely benign
Select item 312960	NM_001099274.3(TINF2):c.-93T>C	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 312959	NM_001099274.3(TINF2):c.-91C>T	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +2 more	GBenign/Likely benign
Select item 312958	NM_001099274.3(TINF2):c.-50A>G	LOC130055404, TINF2	Single nucleotide variant (5 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 312957	NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg)	LOC130055403, TINF2 (Q21R)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +3 more	GConflicting classifications of pathogenicity
Select item 312956	NM_001099274.3(TINF2):c.74G>C (p.Gly25Ala)	LOC130055403, TINF2 (G25A)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 38928	NM_001099274.3(TINF2):c.892del (p.Gln298fs)	TINF2 (Q263fs +1 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided
Select item 38927	NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)	TINF2 (R291G +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided
Select item 38926	NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)	TINF2 (P254S +1 more)	Indel (missense variant)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided
Select item 38925	NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)	TINF2 (F288L +1 more)	Single nucleotide variant (missense variant)	Aplastic anemia	Gnot provided
Select item 38921	NM_001099274.3(TINF2):c.848C>A (p.Pro283His)	TINF2 (P283H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided
Select item 38919	NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)	TINF2 (P283A +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided
Select item 38917	NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	TINF2 (K280* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 1	Gnot provided

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Links from Gene

Items: 62