"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC106780 - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 36