ClinVar for Gene (Select 26277) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238739	NM_001099274.3(TINF2):c.248_249del (p.Leu83fs)	TINF2 (L83fs)	Deletion (frameshift variant +1 more)	Long telomere syndrome	GPathogenic
Select item 3238738	NM_001099274.3(TINF2):c.591del (p.Trp198fs)	TINF2 (W163fs +1 more)	Deletion (frameshift variant)	Long telomere syndrome	GPathogenic
Select item 3238737	NM_001099274.3(TINF2):c.1A>G (p.Met1Val)	TINF2 (M1V)	Single nucleotide variant (missense variant +1 more)	Long telomere syndrome	GPathogenic
Select item 3237357	NM_001099274.3(TINF2):c.865C>G (p.Pro289Ala)	TINF2 (P254A +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita, autosomal dominant 3	GLikely pathogenic
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 3046956	NM_001099274.3(TINF2):c.1208del (p.Gln403fs)	TINF2 (Q368fs +1 more)	Deletion (frameshift variant +1 more)	TINF2-related disorder	GUncertain significance
Select item 3037164	NM_001099274.3(TINF2):c.1353G>A (p.Leu451=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	TINF2-related disorder	GLikely benign
Select item 3025489	NM_001099274.3(TINF2):c.934T>C (p.Tyr312His)	TINF2 (Y277H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016503	NM_001099274.3(TINF2):c.507+12G>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 3015705	NM_001099274.3(TINF2):c.1166T>G (p.Ile389Arg)	TINF2 (I389R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 3013572	NM_001099274.3(TINF2):c.298-15C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3007473	NM_001099274.3(TINF2):c.399+9G>C	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 3006842	NM_001099274.3(TINF2):c.954G>C (p.Met318Ile)	TINF2 (M283I +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	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 2999216	NM_001099274.3(TINF2):c.487C>T (p.Pro163Ser)	TINF2 (P163S +1 more)	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 2979765	NM_001099274.3(TINF2):c.389C>G (p.Ser130Trp)	TINF2 (S130W +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2979519	NM_001099274.3(TINF2):c.926A>T (p.His309Leu)	TINF2 (H309L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2975844	NM_001099274.3(TINF2):c.1062-2A>G	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2974211	NM_001099274.3(TINF2):c.564C>G (p.Ala188=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2973758	NM_001099274.3(TINF2):c.801A>C (p.Arg267Ser)	TINF2 (R232S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2969339	NM_001099274.3(TINF2):c.508-10C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2968521	NM_001099274.3(TINF2):c.605-20G>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2968106	NM_001099274.3(TINF2):c.1292C>A (p.Pro431His)	TINF2 (P431H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2961301	NM_001099274.3(TINF2):c.459G>A (p.Glu153=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2958070	NM_001099274.3(TINF2):c.948A>G (p.Leu316=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2919943	NM_001099274.3(TINF2):c.529A>T (p.Met177Leu)	TINF2 (M142L +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2919851	NM_001099274.3(TINF2):c.1062-19_1062-18del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2917942	NM_001099274.3(TINF2):c.1010dup (p.Arg338fs)	TINF2 (R338fs +1 more)	Duplication (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 2914644	NM_001099274.3(TINF2):c.307G>C (p.Asp103His)	TINF2 (D68H +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2914027	NM_001099274.3(TINF2):c.968C>T (p.Ala323Val)	TINF2 (A323V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2913873	NM_001099274.3(TINF2):c.604+15G>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2913147	NM_001099274.3(TINF2):c.1250A>C (p.Lys417Thr)	TINF2 (K417T +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2911913	NM_001099274.3(TINF2):c.789A>T (p.Leu263=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2904843	NM_001099274.3(TINF2):c.1136C>G (p.Pro379Arg)	TINF2 (P344R +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2904025	NM_001099274.3(TINF2):c.604G>C (p.Glu202Gln)	TINF2 (E167Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2902976	NM_001099274.3(TINF2):c.867C>T (p.Pro289=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2894784	NM_001099274.3(TINF2):c.1289C>T (p.Pro430Leu)	TINF2 (P430L +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2887404	NM_001099274.3(TINF2):c.193-7C>T	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2885490	NM_001099274.3(TINF2):c.239T>C (p.Leu80Pro)	TINF2 (L80P)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2885288	NM_001099274.3(TINF2):c.16G>C (p.Val6Leu)	TINF2 (V6L)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2885254	NM_001099274.3(TINF2):c.414G>A (p.Glu138=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2881410	NM_001099274.3(TINF2):c.1010G>A (p.Gly337Glu)	TINF2 (G337E +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2880545	NM_001099274.3(TINF2):c.900A>G (p.Ile300Met)	TINF2 (I265M +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2876815	NM_001099274.3(TINF2):c.295G>C (p.Ala99Pro)	TINF2 (A99P)	Single nucleotide variant (intron variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2874926	NM_001099274.3(TINF2):c.1061+8_1061+9del	TINF2	Deletion (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2869096	NM_001099274.3(TINF2):c.297+18C>A	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2865763	NM_001099274.3(TINF2):c.919del (p.Glu307fs)	TINF2 (E307fs +1 more)	Deletion (frameshift variant)	Dyskeratosis congenita	GUncertain significance
Select item 2861644	NM_001099274.3(TINF2):c.415T>G (p.Tyr139Asp)	TINF2 (Y139D +1 more)	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 2846374	NM_001099274.3(TINF2):c.31G>C (p.Ala11Pro)	TINF2 (A11P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2838061	NM_001099274.3(TINF2):c.450G>C (p.Leu150=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2837415	NM_001099274.3(TINF2):c.1062-15T>C	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2835108	NM_001099274.3(TINF2):c.297+1G>A	TINF2	Single nucleotide variant (splice donor variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2834886	NM_001099274.3(TINF2):c.604+13T>C	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2831590	NM_001099274.3(TINF2):c.831A>G (p.Gly277=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2827373	NM_001099274.3(TINF2):c.297+4A>G	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2818922	NM_001099274.3(TINF2):c.1130-7C>T	TINF2	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2805016	NM_001099274.3(TINF2):c.400-11C>G	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2803084	NM_001099274.3(TINF2):c.914G>A (p.Ser305Asn)	TINF2 (S305N +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2792370	NM_001099274.3(TINF2):c.1329C>T (p.Asp443=)	TINF2	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2783281	NM_001099274.3(TINF2):c.209T>C (p.Ile70Thr)	TINF2 (I70T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2782682	NM_001099274.3(TINF2):c.1035T>C (p.Val345=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2779978	NM_001099274.3(TINF2):c.1302C>A (p.His434Gln)	TINF2 (H434Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2772821	NM_001099274.3(TINF2):c.525T>C (p.Ser175=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2772246	NM_001099274.3(TINF2):c.667C>G (p.Gln223Glu)	TINF2 (Q223E +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2763643	NM_001099274.3(TINF2):c.1307C>G (p.Ala436Gly)	TINF2 (A401G +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2758100	NM_001099274.3(TINF2):c.1188TGA[1] (p.Asp397del)	TINF2 (D362del +1 more)	Microsatellite (inframe_deletion +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2750382	NM_001099274.3(TINF2):c.298-19T>C	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2744816	NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)	TINF2 (F255S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GLikely pathogenic
Select item 2743777	NM_001099274.3(TINF2):c.9G>C (p.Thr3=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2742636	NM_001099274.3(TINF2):c.766C>T (p.Arg256Ter)	TINF2 (R221* +1 more)	Single nucleotide variant (nonsense)	Dyskeratosis congenita	GUncertain significance
Select item 2742139	NM_001099274.3(TINF2):c.567G>T (p.Trp189Cys)	TINF2 (W154C +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2733765	NM_001099274.3(TINF2):c.631C>T (p.Leu211=)	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 2732500	NM_001099274.3(TINF2):c.293A>C (p.Lys98Thr)	TINF2 (K98T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2732392	NM_001099274.3(TINF2):c.297+18C>G	TINF2	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2731523	NM_001099274.3(TINF2):c.747C>T (p.His249=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2730584	NM_001099274.3(TINF2):c.1070_1078dup (p.Cys359_Tyr360insLeuAspCys)	TINF2	Duplication (inframe_insertion +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2725414	NM_001099274.3(TINF2):c.927T>G (p.His309Gln)	TINF2 (H309Q +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2721396	NM_001099274.3(TINF2):c.386C>T (p.Ala129Val)	TINF2 (A129V +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2716541	NM_001099274.3(TINF2):c.1231G>C (p.Glu411Gln)	TINF2 (E411Q +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2714428	NM_001099274.3(TINF2):c.1047C>T (p.Ala349=)	TINF2	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita	GLikely benign
Select item 2714377	NM_001099274.3(TINF2):c.1288C>G (p.Pro430Ala)	TINF2 (P395A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2712854	NM_001099274.3(TINF2):c.1209G>T (p.Gln403His)	TINF2 (Q403H +1 more)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 2709704	NM_001099274.3(TINF2):c.648A>C (p.Glu216Asp)	TINF2 (E181D +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
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 2704434	NM_001099274.3(TINF2):c.686A>G (p.Asn229Ser)	TINF2 (N194S +1 more)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2703804	NM_001099274.3(TINF2):c.43G>C (p.Ala15Pro)	TINF2 (A15P)	Single nucleotide variant (missense variant)	Dyskeratosis congenita	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2633179	NM_001099274.3(TINF2):c.857dup (p.Met286fs)	TINF2 (M251fs +1 more)	Duplication (frameshift variant)	TINF2-related disorder	GLikely pathogenic
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 2504720	NM_001099274.3(TINF2):c.416A>G (p.Tyr139Cys)	TINF2 (Y104C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446323	NM_001099274.3(TINF2):c.763G>C (p.Gly255Arg)	TINF2 (G220R +1 more)	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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance

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