"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261123	NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1211154	NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)	CYP21A2, LOC106780803 +1 more (M4116L +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 190375	NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)	LOC106780803, TNXB (R4073H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702306	NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702305	NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro)	LOC106780803, TNXB (L4054P +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 261119	NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GLikely benign
Select item 1702304	NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr)	LOC106780803, TNXB (A290T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702303	NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1208037	NM_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg)	LOC106780803, TNXB (Q235R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 261107	NM_001365276.2(TNXB):c.11387-9T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1702302	NM_001365276.2(TNXB):c.11387-10A>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702301	NM_001365276.2(TNXB):c.11349G>A (p.Ala3783=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 989243	NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn)	LOC106780803, TNXB (D172N +2 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1335621	NM_001365276.2(TNXB):c.10812C>T (p.Gly3604=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702300	NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702299	NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu)	LOC106780803, TNXB	Duplication (inframe_insertion +1 more)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702298	NM_001365276.2(TNXB):c.10623_10624del (p.Pro3542fs)	LOC106780803, TNXB (P3540fs +1 more)	Microsatellite (frameshift variant +1 more)	Ehlers-Danlos syndrome +1 more	GLikely pathogenic
Select item 1702297	NM_001365276.2(TNXB):c.10555G>A (p.Gly3519Arg)	TNXB (G3517R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1291596	NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign
Select item 1702296	NM_001365276.2(TNXB):c.10537T>A (p.Tyr3513Asn)	TNXB (Y3511N +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1311769	NM_001365276.2(TNXB):c.10499G>A (p.Arg3500His)	TNXB (R3498H +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 423635	NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu)	TNXB (V3455L +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 261095	NM_001365276.2(TNXB):c.10368C>T (p.Thr3456=)	TNXB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1254667	NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys)	TNXB (S3382C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1205097	NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met)	TNXB (V3369M +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1243603	NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser)	TNXB (P3352S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 809896	NM_001365276.2(TNXB):c.10046-4C>T	TNXB	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1199051	NM_001365276.2(TNXB):c.10018G>A (p.Gly3340Ser)	TNXB (G3338S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1702365	NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys)	TNXB (R3322C +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 432511	NM_001365276.2(TNXB):c.9946G>A (p.Ala3316Thr)	TNXB (A3314T +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702364	NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg)	TNXB (Q3298R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1217637	NM_001365276.2(TNXB):c.9897G>A (p.Ala3299=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1196939	NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 1205063	NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +4 more	GBenign/Likely benign
Select item 261181	NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign
Select item 1702363	NM_001365276.2(TNXB):c.9668dup (p.Leu3224fs)	TNXB (L3222fs +1 more)	Duplication (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1207698	NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 209196	NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)	TNXB (V3219M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1238266	NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys)	TNXB (E3213K +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 261180	NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val)	TNXB (G3212V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 209197	NM_001365276.2(TNXB):c.9637A>G (p.Arg3213Gly)	TNXB (R3211G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 261179	NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly)	TNXB (R3209G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1209938	NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1702362	NM_001365276.2(TNXB):c.9579C>T (p.Phe3193=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1702361	NM_001365276.2(TNXB):c.9511G>T (p.Glu3171Ter)	TNXB (E3169* +1 more)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702360	NM_001365276.2(TNXB):c.9498_9499del (p.Glu3166fs)	TNXB (E3164fs +1 more)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1702359	NM_001365276.2(TNXB):c.9497A>T (p.Glu3166Val)	TNXB (E3164V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1300638	NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly)	TNXB (A3161G +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702358	NM_001365276.2(TNXB):c.9474T>G (p.Thr3158=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 261176	NM_001365276.2(TNXB):c.9440-12_9440-10del	TNXB	Deletion (intron variant)	not provided +2 more	GBenign
Select item 809898	NM_001365276.2(TNXB):c.9439+8A>G	TNXB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 809899	NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1254801	NM_001365276.2(TNXB):c.9421T>A (p.Ser3141Thr)	TNXB (S3139T +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance
Select item 1187828	NM_001365276.2(TNXB):c.9333C>T (p.Asp3111=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 623663	NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)	TNXB (R3103Q +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GLikely benign
Select item 1311018	NM_001365276.2(TNXB):c.9271C>G (p.Leu3091Val)	TNXB (L3089V +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 870832	NM_001365276.2(TNXB):c.9255C>G (p.Gly3085=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1702357	NM_001365276.2(TNXB):c.9188T>G (p.Leu3063Arg)	TNXB (L3061R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 871703	NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)	TNXB (K3039E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1205429	NM_001365276.2(TNXB):c.9072C>T (p.His3024=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 261173	NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)	TNXB (K3015R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign
Select item 1263255	NM_001365276.2(TNXB):c.9040T>C (p.Cys3014Arg)	TNXB (C3012R +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 425369	NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)	TNXB (R2995H +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1702356	NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys)	TNXB (R2987K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702355	NM_001365276.2(TNXB):c.8865G>A (p.Leu2955=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 261172	NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr)	TNXB (P2947T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1187338	NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser)	TNXB (G2912S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1213170	NM_001365276.2(TNXB):c.8726A>G (p.Lys2909Arg)	TNXB (K2907R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1290218	NM_001365276.2(TNXB):c.8680G>A (p.Glu2894Lys)	TNXB (E2892K +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 261170	NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign
Select item 1264528	NM_001365276.2(TNXB):c.8598C>T (p.Val2866=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign
Select item 1266597	NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr)	TNXB (M2863T +1 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GBenign/Likely benign
Select item 261169	NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg)	TNXB (G2846R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1189846	NM_001365276.2(TNXB):c.8484A>C (p.Ala2828=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1211759	NM_001365276.2(TNXB):c.8468-1G>A	TNXB	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 871704	NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)	TNXB (R2811Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1702354	NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His)	TNXB (R2798H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1702353	NM_001365276.2(TNXB):c.8290G>A (p.Asp2764Asn)	TNXB (D2764N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702352	NM_001365276.2(TNXB):c.8247del (p.Asp2750fs)	TNXB (D2750fs)	Deletion (frameshift variant)	Ehlers-Danlos syndrome	GLikely pathogenic
Select item 1699695	NM_001365276.2(TNXB):c.8200C>G (p.Pro2734Ala)	TNXB (P2734A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1702351	NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu)	TNXB (P2731L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702350	NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met)	TNXB (T2714M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261167	NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)	TNXB (I2711T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 1702349	NM_001365276.2(TNXB):c.8112C>T (p.Arg2704=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702348	NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser)	TNXB (G2701S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 871705	NM_001365276.2(TNXB):c.8012C>T (p.Ala2671Val)	TNXB (A2671V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1193624	NM_001365276.2(TNXB):c.7995G>A (p.Gly2665=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1210080	NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys)	TNXB (E2652K)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1186026	NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val)	TNXB (M2636V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1209333	NM_001365276.2(TNXB):c.7866C>T (p.Thr2622=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 521772	NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu)	TNXB (P2619L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1336312	NM_001365276.2(TNXB):c.7812C>T (p.Ala2604=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1254703	NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)	TNXB (R2584C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1182904	NM_001365276.2(TNXB):c.7633C>T (p.Pro2545Ser)	TNXB (P2545S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GLikely benign
Select item 1702346	NM_001365276.2(TNXB):c.7534C>A (p.Pro2512Thr)	TNXB (P2512T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1190129	NM_001365276.2(TNXB):c.7492+8G>A	TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome +1 more	GLikely benign
Select item 261161	NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser)	TNXB (G2495S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1702345	NM_001365276.2(TNXB):c.7449C>T (p.His2483=)	TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GConflicting classifications of pathogenicity
Select item 261158	NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 261157	NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile)	TNXB (V2433I)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign

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