ClinVar for MedGen (Select 231230) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 998239	NM_001099274.3(TINF2):c.371C>T (p.Ala124Val)	TINF2 (A124V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 997489	NM_001099274.3(TINF2):c.1084G>C (p.Asp362His)	TINF2 (D327H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 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 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 +3 more	GUncertain significance
Select item 882334	NM_001099274.3(TINF2):c.30A>G (p.Ala10=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +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)	Dyskeratosis congenita +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)	Dyskeratosis congenita +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)	Dyskeratosis congenita +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 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 417880	NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)	LOC130055403, TINF2 (C27*)	Single nucleotide variant (nonsense)	Dyskeratosis congenita +1 more	GConflicting classifications of pathogenicity
Select item 312968	NM_012461.3(TINF2):c.-316G>A	TINF2	Single nucleotide variant (5 prime UTR variant)	Revesz syndrome +1 more	GUncertain significance
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)	Dyskeratosis congenita, autosomal dominant 3 +2 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)	Dyskeratosis congenita, autosomal dominant 3 +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, autosomal dominant 3 +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 +3 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)	not provided +4 more	GBenign/Likely benign
Select item 312954	NM_001099274.3(TINF2):c.400-5del	TINF2	Deletion (intron variant)	Dyskeratosis Congenita, Dominant +2 more	GConflicting classifications of pathogenicity
Select item 312953	NM_001099274.3(TINF2):c.507+5C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita, autosomal dominant 3 +2 more	GConflicting classifications of pathogenicity
Select item 312952	NM_001099274.3(TINF2):c.682C>T (p.His228Tyr)	TINF2 (H228Y +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis Congenita, Dominant +1 more	GUncertain significance
Select item 312951	NM_001099274.3(TINF2):c.710G>A (p.Gly237Asp)	TINF2 (G237D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 312950	NM_001099274.3(TINF2):c.767G>A (p.Arg256Gln)	TINF2 (R256Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis Congenita, Dominant +3 more	GUncertain significance
Select item 312949	NM_001099274.3(TINF2):c.771C>T (p.His257=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita +3 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)	Dyskeratosis congenita +4 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 provided +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 +3 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)	not provided +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 +4 more	GBenign/Likely benign
Select item 38918	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	TGM1, TINF2 (E281K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 1 +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)	Dyskeratosis congenita +5 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)	not specified +3 more	GBenign/Likely benign
Select item 31542	NM_001099274.3(TINF2):c.839del (p.Lys280fs)	TINF2 (K245fs +1 more)	Deletion (frameshift variant)	Revesz syndrome	GPathogenic
Select item 5625	NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	TINF2 (R282H +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic

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Items: 54