ClinVar for MedGen (Select 78546) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358864	NM_004239.4(TRIP11):c.1438G>T (p.Glu480Ter)	TRIP11 (E480* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 3243957	NC_000014.8:g.(?_92436017)_(92436257_?)del	TRIP11	Deletion	Achondrogenesis, type IA	GLikely pathogenic
Select item 3236470	TRIP11, ASN701SERfsTER13	TRIP11	Variation	Achondrogenesis, type IA	GPathogenic
Select item 3022640	NM_004239.4(TRIP11):c.4558-5A>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 3017280	NM_004239.4(TRIP11):c.4392A>T (p.Glu1464Asp)	TRIP11 (E1463D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3016685	NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 3013551	NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr)	TRIP11 (I317T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3012935	NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser)	TRIP11 (N1426S +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 3006422	NM_004239.4(TRIP11):c.5343-1G>C	TRIP11	Single nucleotide variant (splice acceptor variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 3004397	NM_004239.4(TRIP11):c.2875T>C (p.Leu959=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2999774	NM_004239.4(TRIP11):c.4761T>C (p.His1587=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2997495	NM_004239.4(TRIP11):c.4557+15G>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2991772	NM_004239.4(TRIP11):c.4551_4554del (p.Lys1517fs)	TRIP11 (K1517fs +1 more)	Microsatellite (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2988761	NM_004239.4(TRIP11):c.2605T>C (p.Leu869=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2975249	NM_004239.4(TRIP11):c.5057-1G>A	TRIP11	Single nucleotide variant (splice acceptor variant)	Achondrogenesis, type IA	GLikely pathogenic
Select item 2974518	NM_004239.4(TRIP11):c.1887G>A (p.Gln629=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2973569	NM_004239.4(TRIP11):c.3783T>A (p.Ser1261=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2973001	NM_004239.4(TRIP11):c.2421A>G (p.Thr807=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2967934	NM_004239.4(TRIP11):c.863A>G (p.Tyr288Cys)	TRIP11 (Y287C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2962830	NM_004239.4(TRIP11):c.4558-11C>A	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2918880	NM_004239.4(TRIP11):c.5026C>T (p.Leu1676=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2917949	NM_004239.4(TRIP11):c.4892+19T>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2911466	NM_004239.4(TRIP11):c.4698+17_4698+22del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2908528	NM_004239.4(TRIP11):c.1191C>T (p.Ala397=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2907693	NM_004239.4(TRIP11):c.1580G>A (p.Ser527Asn)	TRIP11 (S526N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2906595	NM_004239.4(TRIP11):c.2821G>A (p.Asp941Asn)	TRIP11 (D940N +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2905337	NM_004239.4(TRIP11):c.2985A>G (p.Gln995=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2905134	NM_004239.4(TRIP11):c.567C>T (p.Gly189=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2904253	NM_004239.4(TRIP11):c.4432_4433del (p.Glu1478fs)	TRIP11 (E1478fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2899451	NM_004239.4(TRIP11):c.202-5del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GBenign
Select item 2897117	NM_004239.4(TRIP11):c.5433C>T (p.Gly1811=)	TRIP11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2888511	NM_004239.4(TRIP11):c.4006G>C (p.Glu1336Gln)	TRIP11 (E1335Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2888419	NM_004239.4(TRIP11):c.429A>G (p.Ser143=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2883730	NM_004239.4(TRIP11):c.2247A>G (p.Ala749=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2877411	NM_004239.4(TRIP11):c.384T>C (p.Ala128=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2874887	NM_004239.4(TRIP11):c.312+14_312+15del	TRIP11	Microsatellite (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2874753	NM_004239.4(TRIP11):c.3660A>G (p.Lys1220=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2869550	NM_004239.4(TRIP11):c.2547G>A (p.Glu849=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2864137	NM_004239.4(TRIP11):c.1993A>G (p.Asn665Asp)	TRIP11 (N664D +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2853029	NM_004239.4(TRIP11):c.2883G>A (p.Lys961=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2851824	NM_004239.4(TRIP11):c.4557+13T>A	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2843452	NM_004239.4(TRIP11):c.3268C>T (p.Gln1090Ter)	TRIP11 (Q1090* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 2838267	NM_004239.4(TRIP11):c.981T>A (p.Asn327Lys)	TRIP11 (N326K +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2835481	NM_004239.4(TRIP11):c.2147T>C (p.Met716Thr)	TRIP11 (M715T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2833369	NM_004239.4(TRIP11):c.3104_3105insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGATTAAACTTCT (p.Leu1035_Asn1036insPhePhePhePhePhePheXaaXaaXaaXaaSerThrArgLeuGlyLeuProLysCysTrpAspTyrArgArgGluProProArgProAlaGluIleLysLeuLeu)	TRIP11	Insertion (inframe_insertion)	Achondrogenesis, type IA	GPathogenic
Select item 2814011	NM_004239.4(TRIP11):c.2911dup (p.Thr971fs)	TRIP11 (T970fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2813857	NM_004239.4(TRIP11):c.4968G>T (p.Ala1656=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2811996	NM_004239.4(TRIP11):c.5838T>C (p.Leu1946=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2811857	NM_004239.4(TRIP11):c.3270A>G (p.Gln1090=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2807798	NM_004239.4(TRIP11):c.5719+13A>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2803820	NM_004239.4(TRIP11):c.1731C>T (p.Thr577=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2797272	NM_004239.4(TRIP11):c.5346C>T (p.Val1782=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2793739	NM_004239.4(TRIP11):c.4604T>C (p.Met1535Thr)	TRIP11 (M1534T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2791084	NM_004239.4(TRIP11):c.3507del (p.Asp1170fs)	TRIP11 (D1169fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2790260	NM_004239.4(TRIP11):c.1527+9G>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2782159	NM_004239.4(TRIP11):c.1315-14T>C	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2782021	NM_004239.4(TRIP11):c.4817A>G (p.Glu1606Gly)	TRIP11 (E1605G +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2780109	NM_004239.4(TRIP11):c.4416C>T (p.Tyr1472=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2768462	NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter)	TRIP11 (S1839* +1 more)	Single nucleotide variant (nonsense)	Achondrogenesis, type IA	GPathogenic
Select item 2768141	NM_004239.4(TRIP11):c.944_948del (p.Ile315fs)	TRIP11 (I314fs +1 more)	Microsatellite (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2766007	NM_004239.4(TRIP11):c.1622dup (p.Arg542fs)	TRIP11 (R542fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2762212	NM_004239.4(TRIP11):c.201+14_201+15del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2753557	NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu)	TRIP11 (P1850L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GLikely benign
Select item 2748881	NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg)	TRIP11	Microsatellite (inframe_insertion)	Achondrogenesis, type IA	GUncertain significance
Select item 2739332	NM_004239.4(TRIP11):c.1186+18C>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2738828	NM_004239.4(TRIP11):c.5343-18C>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2733115	NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu)	TRIP11 (P1920L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2730960	NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)	TRIP11 (D461Y +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GBenign
Select item 2728918	NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys)	TRIP11 (E1340K +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2725135	NM_004239.4(TRIP11):c.589-11_589-10del	TRIP11	Deletion (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2724225	NM_004239.4(TRIP11):c.1186+10C>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2716215	NM_004239.4(TRIP11):c.75C>T (p.Ser25=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2715885	NM_004239.4(TRIP11):c.5261-7A>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2702312	NM_004239.4(TRIP11):c.3173del (p.Thr1058fs)	TRIP11 (T1057fs +1 more)	Deletion (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2698626	NM_004239.4(TRIP11):c.2853C>T (p.Asn951=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2698353	NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu)	TRIP11 (K320E +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2698352	NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly)	TRIP11 (E1744G +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2635180	NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter)	TRIP11 (R252* +1 more)	Single nucleotide variant (nonsense)	TRIP11-related disorder	GPathogenic
Select item 2437321	NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu)	TRIP11 (P1887L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 2416088	NM_004239.4(TRIP11):c.877dup (p.Thr293fs)	TRIP11 (T292fs +1 more)	Duplication (frameshift variant)	Achondrogenesis, type IA	GPathogenic
Select item 2415319	NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2414138	NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu)	TRIP11 (P1961L +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2260383	NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln)	TRIP11 (R1804Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA +1 more	GUncertain significance
Select item 2199984	NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln)	TRIP11 (K737Q +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2196639	NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr)	TRIP11 (K1055T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2196362	NM_004239.4(TRIP11):c.5161-18T>C	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2192559	NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala)	TRIP11 (P1843A +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2184535	NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe)	TRIP11 (L556F +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2182452	NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2170483	NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu)	TRIP11 (K1607E +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2169692	NM_004239.4(TRIP11):c.5458-15A>G	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2166358	NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala)	TRIP11 (D1761A +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2164984	NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr)	TRIP11 (A880T +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2163245	NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg)	TRIP11 (Q1667R +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2162837	NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys)	TRIP11 (S1317C +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2162835	NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His)	TRIP11 (R1584H +1 more)	Single nucleotide variant (missense variant)	Achondrogenesis, type IA	GUncertain significance
Select item 2162788	NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=)	TRIP11	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IA	GLikely benign
Select item 2159312	NM_004239.4(TRIP11):c.1315-12T>C	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign
Select item 2158330	NM_004239.4(TRIP11):c.4558-18A>T	TRIP11	Single nucleotide variant (intron variant)	Achondrogenesis, type IA	GLikely benign

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