"PreventionGenetics, part of Exact Sciences"[submitter] AND "TNXB"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12154	NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)	CYP21A2, LOC106780800 +1 more (S269T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 12169	NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)	CYP21A2, LOC106780800 +1 more (Q319* +2 more)	Single nucleotide variant (nonsense)	CYP21A2-related disorder +3 more	GPathogenic
Select item 12152	NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)	CYP21A2, LOC106780800 +1 more (R357W +2 more)	Single nucleotide variant (missense variant)	CYP21A2-related disorder +2 more	GPathogenic
Select item 256285	NM_000500.9(CYP21A2):c.1125C>T (p.Ser375=)	CYP21A2, LOC106780800 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261093	NM_001365276.2(TNXB):c.*39G>A	CYP21A2, TNXB	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GLikely benign
Select item 449837	NM_001365276.2(TNXB):c.12469+2T>C	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +2 more	GUncertain significance
Select item 2632002	NM_001365276.2(TNXB):c.12437G>A (p.Arg4146His)	LOC106780803, TNXB (R4144H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 261123	NM_001365276.2(TNXB):c.12378C>T (p.Asp4126=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +1 more	GLikely benign
Select item 3037178	NM_001365276.2(TNXB):c.12356G>A (p.Arg4119His)	LOC106780803, TNXB (R4117H +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 3057557	NM_001365276.2(TNXB):c.12259G>A (p.Glu4087Lys)	LOC106780803, TNXB (E4085K +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 261122	NM_001365276.2(TNXB):c.12210+43T>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261121	NM_001365276.2(TNXB):c.12210+39dup	LOC106780803, TNXB	Duplication (intron variant)	not specified	GLikely benign
Select item 190374	NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)	LOC106780803, TNXB (C4058W +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261120	NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)	LOC106780803, TNXB (N4055I +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign
Select item 261119	NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GLikely benign
Select item 2635849	NM_001365276.2(TNXB):c.12112G>T (p.Ala4038Ser)	LOC106780803, TNXB (A4036S +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 261118	NM_001365276.2(TNXB):c.12058+11G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261117	NM_001365276.2(TNXB):c.11921A>C (p.Asn3974Thr)	LOC106780803, TNXB (N3972T +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 3028983	NM_001365276.2(TNXB):c.11845G>A (p.Ala3949Thr)	LOC106780803, TNXB (A378T +2 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	GUncertain significance
Select item 261116	NM_001365276.2(TNXB):c.11650+16G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261115	NM_001365276.2(TNXB):c.11650+10C>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 261114	NM_001365276.2(TNXB):c.11629G>A (p.Val3877Ile)	LOC106780803, TNXB (V306I +2 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 261113	NM_001365276.2(TNXB):c.11547A>G (p.Thr3849=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 261111	NM_001365276.2(TNXB):c.11531-25T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign
Select item 261112	NM_001365276.2(TNXB):c.11531-36C>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 261110	NM_001365276.2(TNXB):c.11530+46C>T	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 261109	NM_001365276.2(TNXB):c.11530+37C>T	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261108	NM_001365276.2(TNXB):c.11412T>C (p.Asp3804=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +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 261106	NM_001365276.2(TNXB):c.11387-45T>C	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GBenign
Select item 261104	NM_001365276.2(TNXB):c.11264-20G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261105	NM_001365276.2(TNXB):c.11264-48A>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 261103	NM_001365276.2(TNXB):c.11184G>A (p.Leu3728=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 261102	NM_001365276.2(TNXB):c.11142G>A (p.Thr3714=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 261101	NM_001365276.2(TNXB):c.11088T>A (p.Thr3696=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 261100	NM_001365276.2(TNXB):c.10928-16C>T	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261099	NM_001365276.2(TNXB):c.10893G>A (p.Lys3631=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 261098	NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant +1 more)	Ehlers-Danlos syndrome due to tenascin-X deficiency +3 more	GLikely benign
Select item 261097	NM_001365276.2(TNXB):c.10677A>G (p.Leu3559=)	LOC106780803, TNXB	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1205924	NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)	LOC106780803, TNXB (R3556H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 261096	NM_001365276.2(TNXB):c.10607-19C>A	LOC106780803, TNXB	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GLikely benign
Select item 1773870	NM_001365276.2(TNXB):c.10406G>T (p.Trp3469Leu)	TNXB (W3467L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 2635024	NM_001365276.2(TNXB):c.10356G>A (p.Leu3452=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GUncertain significance
Select item 261094	NM_001365276.2(TNXB):c.10200G>A (p.Pro3400=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 809896	NM_001365276.2(TNXB):c.10046-4C>T	TNXB	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1197407	NM_001365276.2(TNXB):c.10045G>C (p.Ala3349Pro)	TNXB (A3347P +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +2 more	GLikely benign
Select item 432511	NM_001365276.2(TNXB):c.9946G>A (p.Ala3316Thr)	TNXB (A3314T +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1768270	NM_001365276.2(TNXB):c.9813G>A (p.Ala3271=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 261182	NM_001365276.2(TNXB):c.9699T>C (p.His3233=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 261181	NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 261180	NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val)	TNXB (G3212V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 261179	NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly)	TNXB (R3209G +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign
Select item 1204062	NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)	TNXB (D3192N +1 more)	Single nucleotide variant (missense variant)	Vesicoureteral reflux 8 +5 more	GUncertain significance
Select item 261178	NM_001365276.2(TNXB):c.9562G>A (p.Val3188Ile)	TNXB (V3186I +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 2464075	NM_001365276.2(TNXB):c.9514T>C (p.Leu3172=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 261176	NM_001365276.2(TNXB):c.9440-12_9440-10del	TNXB	Deletion (intron variant)	not provided +2 more	GBenign
Select item 261177	NM_001365276.2(TNXB):c.9440-48G>T	TNXB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2593652	NM_001365276.2(TNXB):c.9387C>T (p.Tyr3129=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1187828	NM_001365276.2(TNXB):c.9333C>T (p.Asp3111=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1220423	NM_001365276.2(TNXB):c.9324G>A (p.Gly3108=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 623663	NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln)	TNXB (R3103Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GLikely benign
Select item 870832	NM_001365276.2(TNXB):c.9255C>G (p.Gly3085=)	TNXB	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2451183	NM_001365276.2(TNXB):c.9229A>C (p.Ser3077Arg)	TNXB (S3075R +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +1 more	GUncertain significance
Select item 1223140	NM_001365276.2(TNXB):c.9219C>A (p.Pro3073=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2636559	NM_001365276.2(TNXB):c.9174dup (p.Ile3059fs)	TNXB (I3057fs +1 more)	Duplication (frameshift variant)	TNXB-related disorder	GLikely pathogenic
Select item 871703	NM_001365276.2(TNXB):c.9121A>G (p.Lys3041Glu)	TNXB (K3039E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1197047	NM_001365276.2(TNXB):c.9083G>A (p.Arg3028His)	TNXB (R3026H +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +2 more	GUncertain significance
Select item 261173	NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg)	TNXB (K3015R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2562161	NM_001365276.2(TNXB):c.9035C>T (p.Pro3012Leu)	TNXB (P3010L +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1215704	NM_001365276.2(TNXB):c.9018C>T (p.Thr3006=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2632069	NM_001365276.2(TNXB):c.8995del (p.Arg2999fs)	TNXB (R2997fs +1 more)	Deletion (frameshift variant)	TNXB-related disorder	GPathogenic
Select item 425369	NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)	TNXB (R2995H +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +3 more	GUncertain significance
Select item 2636962	NM_001365276.2(TNXB):c.8845C>T (p.Pro2949Ser)	TNXB (P2947S +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder	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 261171	NM_001365276.2(TNXB):c.8791+35G>A	TNXB	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 827991	NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)	TNXB (V2919M +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1187338	NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser)	TNXB (G2912S +1 more)	Single nucleotide variant (missense variant)	TNXB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3047721	NM_001365276.2(TNXB):c.8679C>T (p.His2893=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder	GLikely benign
Select item 1193160	NM_001365276.2(TNXB):c.8606_8607insA (p.Gln2870fs)	TNXB (Q2868fs +1 more)	Insertion (frameshift variant)	TNXB-related disorder +1 more	GLikely pathogenic
Select item 261170	NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 2464154	NM_001365276.2(TNXB):c.8571T>C (p.Pro2857=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 261169	NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg)	TNXB (G2846R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1189846	NM_001365276.2(TNXB):c.8484A>C (p.Ala2828=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder +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 +4 more	GConflicting classifications of pathogenicity
Select item 1763472	NM_001365276.2(TNXB):c.8463G>T (p.Val2821=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 871704	NM_001365276.2(TNXB):c.8432G>A (p.Arg2811Gln)	TNXB (R2811Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1189941	NM_001365276.2(TNXB):c.8371G>A (p.Val2791Met)	TNXB (V2791M)	Single nucleotide variant (missense variant)	TNXB-related disorder +2 more	GUncertain significance
Select item 261168	NM_001365276.2(TNXB):c.8192C>G (p.Pro2731Arg)	TNXB (P2731R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 261167	NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr)	TNXB (I2711T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 261166	NM_001365276.2(TNXB):c.8111G>A (p.Arg2704His)	TNXB (R2704H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 1193624	NM_001365276.2(TNXB):c.7995G>A (p.Gly2665=)	TNXB	Single nucleotide variant (synonymous variant)	TNXB-related disorder +3 more	GLikely benign
Select item 1210080	NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys)	TNXB (E2652K)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1761235	NM_001365276.2(TNXB):c.7920C>A (p.Thr2640=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1186026	NM_001365276.2(TNXB):c.7906A>G (p.Met2636Val)	TNXB (M2636V)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1760824	NM_001365276.2(TNXB):c.7836C>A (p.Ala2612=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 261165	NM_001365276.2(TNXB):c.7797G>A (p.Leu2599=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign
Select item 261164	NM_001365276.2(TNXB):c.7790G>A (p.Arg2597Gln)	TNXB (R2597Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign
Select item 261163	NM_001365276.2(TNXB):c.7680C>T (p.Asp2560=)	TNXB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1759850	NM_001365276.2(TNXB):c.7620T>C (p.Leu2540=)	TNXB	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign

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