"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC106780803"[ - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379654	NM_001365276.2(TNXB):c.12560G>A (p.Arg4187Gln)	LOC106780803, TNXB (R4185Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 190377	NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn)	LOC106780803, TNXB (S4175N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 190376	NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn)	LOC106780803, TNXB (D4172N +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 449837	NM_001365276.2(TNXB):c.12469+2T>C	LOC106780803, TNXB	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 3379655	NM_001365276.2(TNXB):c.12379G>A (p.Glu4127Lys)	LOC106780803, TNXB (E4125K +3 more)	Single nucleotide variant (missense variant)	not provided	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 1210015	NM_001365276.2(TNXB):c.12210+5G>A	LOC106780803, TNXB	Single nucleotide variant (intron variant)	Vesicoureteral reflux 8 +2 more	GConflicting classifications of pathogenicity
Select item 190374	NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp)	LOC106780803, TNXB (C4058W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2682923	NM_001365276.2(TNXB):c.12167del (p.Leu4056fs)	LOC106780803, TNXB (L4054fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3379656	NM_001365276.2(TNXB):c.12062G>A (p.Gly4021Glu)	LOC106780803, TNXB (G4019E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379657	NM_001365276.2(TNXB):c.11930T>A (p.Ile3977Asn)	LOC106780803, TNXB (I3975N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379658	NM_001365276.2(TNXB):c.11925+6C>G	LOC106780803, TNXB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3379659	NM_001365276.2(TNXB):c.11831T>C (p.Val3944Ala)	LOC106780803, TNXB (V373A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682924	NM_001365276.2(TNXB):c.11610T>A (p.Asn3870Lys)	LOC106780803, TNXB (N299K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3381004	NM_001365276.2(TNXB):c.11441_11530+30del	LOC106780803, TNXB	Deletion (splice donor variant)	not provided	GPathogenic
Select item 3379660	NM_001365276.2(TNXB):c.11527A>G (p.Thr3843Ala)	LOC106780803, TNXB (T272A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682925	NM_001365276.2(TNXB):c.11245G>A (p.Ala3749Thr)	LOC106780803, TNXB (A178T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379661	NM_001365276.2(TNXB):c.11171G>A (p.Arg3724His)	LOC106780803, TNXB (R153H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379662	NM_001365276.2(TNXB):c.10970G>A (p.Arg3657His)	LOC106780803, TNXB (R3655H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379663	NM_001365276.2(TNXB):c.10856C>G (p.Pro3619Arg)	LOC106780803, TNXB (P3617R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379664	NM_001365276.2(TNXB):c.10624C>T (p.Pro3542Ser)	LOC106780803, TNXB (P3540S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 22