"Ambry Genetics"[submitter] AND "TCTN3"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194415	NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)	TCTN3 (L592V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1411675	NM_015631.6(TCTN3):c.1705G>A (p.Asp569Asn)	TCTN3 (D421N +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 499913	NM_015631.6(TCTN3):c.1591-5C>T	TCTN3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2186977	NM_015631.6(TCTN3):c.1580A>G (p.Gln527Arg)	TCTN3 (Q495R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1481960	NM_015631.6(TCTN3):c.1538C>T (p.Pro513Leu)	TCTN3 (P513L +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 1419103	NM_015631.6(TCTN3):c.1474T>A (p.Cys492Ser)	TCTN3 (C492S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1521263	NM_015631.6(TCTN3):c.1403C>T (p.Ala468Val)	TCTN3 (A468V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1416283	NM_015631.6(TCTN3):c.1402G>C (p.Ala468Pro)	TCTN3 (A320P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1407976	NM_015631.6(TCTN3):c.1396G>C (p.Asp466His)	TCTN3 (D318H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 473271	NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly)	TCTN3 (V424G +1 more)	Single nucleotide variant (missense variant)	Joubert syndrome 18 +2 more	GUncertain significance
Select item 641338	NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)	TCTN3 (S399N +1 more)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 1343672	NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys)	TCTN3 (R363C)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 18 +3 more	GUncertain significance
Select item 1489764	NM_015631.6(TCTN3):c.1060G>A (p.Ala354Thr)	TCTN3 (A354T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2231961	NM_015631.6(TCTN3):c.1004G>C (p.Gly335Ala)	TCTN3 (G335A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1400642	NM_015631.6(TCTN3):c.977A>G (p.Tyr326Cys)	TCTN3 (Y326C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2475913	NM_015631.6(TCTN3):c.953A>G (p.Gln318Arg)	TCTN3 (Q336R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2027808	NM_015631.6(TCTN3):c.910dup (p.Thr304fs)	TCTN3 (T304fs)	Duplication (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2483725	NM_015631.6(TCTN3):c.616T>C (p.Ser206Pro)	TCTN3 (S206P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 506786	NM_015631.6(TCTN3):c.500-6T>C	TCTN3	Single nucleotide variant (intron variant)	Orofacial-digital syndrome IV +3 more	GBenign/Likely benign
Select item 2332580	NM_015631.6(TCTN3):c.343A>T (p.Arg115Trp)	TCTN3 (R115W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1382357	NM_015631.6(TCTN3):c.326G>A (p.Cys109Tyr)	TCTN3 (C109Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2235809	NM_015631.6(TCTN3):c.262C>A (p.Pro88Thr)	TCTN3 (P88T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1511128	NM_015631.6(TCTN3):c.223G>A (p.Ala75Thr)	LOC130004408, TCTN3 (A75T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1357692	NM_015631.6(TCTN3):c.181C>A (p.Pro61Thr)	LOC130004408, TCTN3 (P61T)	Single nucleotide variant (missense variant)	Orofacial-digital syndrome IV +2 more	GUncertain significance
Select item 2231332	NM_015631.6(TCTN3):c.28C>A (p.Gln10Lys)	LOC130004408, TCTN3 (Q10K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 25