"Eurofins Ntd Llc (ga)"[submitter] AND "TRIP11"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 289662	NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 314925	NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA +1 more	GConflicting classifications of pathogenicity
Select item 449194	NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)	TRIP11 (P1877T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 281931	NM_004239.4(TRIP11):c.5574+19C>A	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA +1 more	GConflicting classifications of pathogenicity
Select item 288207	NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile)	TRIP11 (T1846I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194954	NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser)	TRIP11 (G1827S +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1 +3 more	GBenign
Select item 594202	NM_004239.4(TRIP11):c.5335G>T (p.Val1779Leu)	TRIP11 (V1779L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 194742	NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn)	TRIP11 (K1766N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +3 more	GConflicting classifications of pathogenicity
Select item 194506	NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)	TRIP11 (E1713Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 502475	NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281613	NM_004239.4(TRIP11):c.5051A>G (p.Gln1684Arg)	TRIP11 (Q1684R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194216	NM_004239.4(TRIP11):c.4892+10del	TRIP11	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499894	NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His)	TRIP11 (R1571H +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1 +2 more	GUncertain significance
Select item 289864	NM_004239.4(TRIP11):c.4691A>C (p.Gln1564Pro)	TRIP11 (Q1564P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283129	NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 314942	NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=)	TRIP11	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 498875	NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met)	TRIP11 (V1469M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 282691	NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193874	NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr)	TRIP11 (S1355T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290765	NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His)	TRIP11 (N1202H +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 288047	NM_004239.4(TRIP11):c.2584A>C (p.Asn862His)	TRIP11 (N862H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5511	NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser)	TRIP11 (N701S +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 597741	NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala)	TRIP11 (V651A +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +1 more	GConflicting classifications of pathogenicity
Select item 598400	NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del)	TRIP11 (E619del +1 more)	Microsatellite (inframe_deletion)	Achondrogenesis, type IA +1 more	GLikely benign
Select item 314966	NM_004239.4(TRIP11):c.1774C>T (p.Leu592=)	TRIP11	Single nucleotide variant (synonymous variant)	TRIP11-related condition +2 more	GConflicting classifications of pathogenicity
Select item 314970	NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser)	TRIP11 (L427S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289693	NM_004239.4(TRIP11):c.1191C>G (p.Ala397=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501068	NM_004239.4(TRIP11):c.1159G>T (p.Val387Leu)	TRIP11 (V387L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 282580	NM_004239.4(TRIP11):c.950A>T (p.Asp317Val)	TRIP11 (D317V +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GUncertain significance
Select item 598402	NM_004239.4(TRIP11):c.660A>G (p.Glu220=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 197229	NM_004239.4(TRIP11):c.499A>G (p.Ile167Val)	TRIP11 (I167V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197230	NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)	TRIP11 (A128S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +2 more	GConflicting classifications of pathogenicity

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Items: 32