ClinVar for MedGen (Select 462795) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2149890	NM_001099274.3(TINF2):c.1249A>G (p.Lys417Glu)	TINF2 (K382E +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 1516884	NM_001099274.3(TINF2):c.1285C>A (p.Leu429Ile)	TINF2 (L394I +1 more)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +3 more	GUncertain significance
Select item 1385538	NM_001099274.3(TINF2):c.802G>C (p.Val268Leu)	TINF2 (V268L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +4 more	GUncertain significance
Select item 992554	NM_001099274.3(TINF2):c.494_502del (p.Pro165_Ala167del)	TINF2	Deletion (inframe_deletion)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 977087	NM_001099274.3(TINF2):c.503A>G (p.Gln168Arg)	TINF2 (Q133R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 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 883336	NM_001099274.3(TINF2):c.607T>C (p.Cys203Arg)	TINF2 (C168R +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 3 +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 882556	NM_001099274.3(TINF2):c.622T>C (p.Ser208Pro)	TINF2 (S173P +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +2 more	GUncertain significance
Select item 882334	NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 3 +3 more	GConflicting classifications of pathogenicity
Select item 880974	NM_001099274.3(TINF2):c.253C>G (p.His85Asp)	TINF2 (H85D)	Single nucleotide variant (missense variant +1 more)	Revesz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 880922	NM_001099274.3(TINF2):c.*33C>T	TINF2	Single nucleotide variant (3 prime UTR variant)	Revesz syndrome +1 more	GBenign/Likely benign
Select item 863456	NM_001099274.3(TINF2):c.517G>A (p.Val173Met)	TINF2 (V173M +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +2 more	GUncertain significance
Select item 846888	NM_001099274.3(TINF2):c.318G>C (p.Lys106Asn)	TINF2 (K106N +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 841738	NM_001099274.3(TINF2):c.1139C>T (p.Pro380Leu)	TINF2 (P345L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 696832	NM_001099274.3(TINF2):c.315G>A (p.Arg105=)	TINF2	Single nucleotide variant (synonymous variant)	Revesz syndrome +2 more	GLikely benign
Select item 662182	NM_001099274.3(TINF2):c.1307C>T (p.Ala436Val)	TINF2 (A401V +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GConflicting classifications of pathogenicity
Select item 655611	NM_001099274.3(TINF2):c.1030C>T (p.Pro344Ser)	TINF2 (P309S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +3 more	GUncertain significance
Select item 646280	NM_001099274.3(TINF2):c.1292del (p.Pro431fs)	TINF2 (P431fs +1 more)	Deletion (frameshift variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 640207	NM_001099274.3(TINF2):c.922G>C (p.Glu308Gln)	TINF2 (E308Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 572348	NM_001099274.3(TINF2):c.403C>T (p.Leu135Phe)	TINF2 (L135F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 437005	NM_001099274.3(TINF2):c.896T>G (p.Val299Gly)	TINF2 (V299G +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 417880	NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)	LOC130055403, TINF2 (C27*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 312967	NM_001099274.3(TINF2):c.-277C>G	TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GUncertain significance
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)	TINF2-related condition +4 more	GBenign/Likely benign
Select item 312955	NM_001099274.3(TINF2):c.359A>G (p.Gln120Arg)	TINF2 (Q120R +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +3 more	GBenign/Likely benign
Select item 312953	NM_001099274.3(TINF2):c.507+5C>T	TINF2	Single nucleotide variant (intron variant)	Revesz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 312951	NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)	TINF2 (G237D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 312949	NM_001099274.3(TINF2):c.771C>T (p.His257=)	TINF2	Single nucleotide variant (synonymous variant)	Revesz syndrome +4 more	GBenign/Likely benign
Select item 312948	NM_001099274.3(TINF2):c.1074T>C (p.Asp358=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 312947	NM_001099274.3(TINF2):c.1092G>A (p.Leu364=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	TINF2-related condition +5 more	GBenign/Likely benign
Select item 312946	NM_001099274.3(TINF2):c.1140G>A (p.Pro380=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 312945	NM_001099274.3(TINF2):c.1290C>G (p.Pro430=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GBenign/Likely benign
Select item 312944	NM_001099274.3(TINF2):c.*53G>A	TINF2	Single nucleotide variant (3 prime UTR variant)	Dyskeratosis congenita, autosomal dominant 3 +1 more	GUncertain significance
Select item 312943	NM_001099274.3(TINF2):c.*91T>C	TINF2	Single nucleotide variant (3 prime UTR variant)	Revesz syndrome +1 more	GBenign
Select item 280299	NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)	TINF2 (Y312* +1 more)	Single nucleotide variant (nonsense)	Revesz syndrome +4 more	GUncertain significance
Select item 238288	NM_001099274.3(TINF2):c.1236C>T (p.Asn412=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 38918	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	TINF2, TGM1 (E281K +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 38916	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	TINF2 (S245Y +1 more)	Single nucleotide variant (missense variant)	Revesz syndrome +4 more	GBenign/Likely benign
Select item 38915	NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	TINF2 (P236S +1 more)	Single nucleotide variant (missense variant)	TINF2-related condition +4 more	GBenign/Likely benign
Select item 37090	NM_001099274.3(TINF2):c.826del (p.Arg276fs)	TINF2 (R276fs +1 more)	Deletion (frameshift variant)	Dyskeratosis congenita, autosomal dominant 3	GPathogenic
Select item 31543	NM_001099274.3(TINF2):c.811C>T (p.Gln271Ter)	TINF2 (Q271* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 3	GPathogenic
Select item 31541	NM_001099274.3(TINF2):c.805C>T (p.Gln269Ter)	TINF2 (Q269* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita, autosomal dominant 3	GPathogenic
Select item 5627	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	TINF2 (R282C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 5626	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	TINF2 (R282S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GPathogenic
Select item 5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2 (R282H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +4 more	GPathogenic
Select item 5624	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	TINF2 (K280E +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 57