ClinVar for MedGen (Select 1784281) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065105	NM_004239.4(TRIP11):c.4894C>T (p.His1632Tyr)	TRIP11 (H1631Y +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GUncertain significance
Select item 2504576	NM_004239.4(TRIP11):c.5343-314T>C	TRIP11	Single nucleotide variant (intron variant)	Odontochondrodysplasia 1	GUncertain significance
Select item 1261817	NM_004239.4(TRIP11):c.1527+41A>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA +2 more	GBenign
Select item 1251990	NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val)	TRIP11 (G1806V +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 1178934	NM_004239.4(TRIP11):c.5260+24T>C	TRIP11	Single nucleotide variant (intron variant)	Odontochondrodysplasia 1 +2 more	GBenign
Select item 959981	NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys)	TRIP11 (R1575C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +2 more	GUncertain significance
Select item 885425	NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn)	TRIP11 (K1353N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +1 more	GConflicting classifications of pathogenicity
Select item 619114	NM_004239.4(TRIP11):c.1622del (p.Lys541fs)	TRIP11 (K541fs +1 more)	Deletion (frameshift variant)	Odontochondrodysplasia 1	GPathogenic
Select item 619113	NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs)	TRIP11 (I710fs +1 more)	Deletion (frameshift variant)	Odontochondrodysplasia 1 +1 more	GPathogenic
Select item 619112	NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val)	TRIP11 (M1806V +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 619111	NM_004239.4(TRIP11):c.4815_4818del (p.Glu1606fs)	TRIP11 (E1605fs +1 more)	Microsatellite (frameshift variant)	Odontochondrodysplasia 1	GPathogenic
Select item 619110	NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr)	TRIP11 (D410Y +1 more)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 619109	NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter)	TRIP11 (Q1512* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1	GLikely pathogenic
Select item 619108	NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs)	TRIP11 (K997fs +1 more)	Deletion (frameshift variant)	Odontochondrodysplasia 1	GPathogenic
Select item 619107	NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter)	TRIP11 (Q196* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 522813	NM_004239.4(TRIP11):c.4557+1G>T	TRIP11	Single nucleotide variant (splice donor variant)	Odontochondrodysplasia 1	GPathogenic
Select item 522812	NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter)	TRIP11 (E680* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1	GPathogenic
Select item 499894	NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His)	TRIP11 (R1571H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 314991	NM_004239.4(TRIP11):c.-333G>A	TRIP11	Single nucleotide variant (5 prime UTR variant)	Achondrogenesis, type IA +1 more	GUncertain significance
Select item 314981	NM_004239.4(TRIP11):c.107A>T (p.Asp36Val)	TRIP11 (D36V)	Single nucleotide variant (missense variant)	Odontochondrodysplasia 1 +3 more	GBenign/Likely benign
Select item 314969	NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly)	TRIP11 (E430G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 314964	NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys)	TRIP11 (E712K +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +4 more	GBenign/Likely benign
Select item 194954	NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser)	TRIP11 (G1827S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 5508	NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter)	TRIP11 (R264* +1 more)	Single nucleotide variant (nonsense)	Odontochondrodysplasia 1 +1 more	GPathogenic

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Items: 24