Related gene-specific medical variations for Gene (Select 89891) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372463	NM_001122821.2(SET):c.58C>A (p.Pro20Thr)	DYNC2I2, SET (P20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3086548	NM_052844.4(DYNC2I2):c.847C>T (p.Arg283Cys)	DYNC2I2, LOC126860772 (R283C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3025809	NM_001122821.2(SET):c.65T>C (p.Leu22Pro)	DYNC2I2, SET (L22P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3011209	NM_052844.4(DYNC2I2):c.782C>T (p.Thr261Met)	DYNC2I2, LOC126860772 (T261M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2917234	NM_052844.4(DYNC2I2):c.704-26_704-14del	DYNC2I2, LOC126860772	Deletion (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2913428	NM_052844.4(DYNC2I2):c.795C>T (p.His265=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2899243	NM_052844.4(DYNC2I2):c.1171dup (p.His391fs)	DYNC2I2, LOC126860772 (H391fs)	Duplication (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2891355	NM_052844.4(DYNC2I2):c.783G>A (p.Thr261=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2865959	NM_052844.4(DYNC2I2):c.871_873del (p.Thr291del)	DYNC2I2, LOC126860772 (T291del)	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2865297	NM_052844.4(DYNC2I2):c.888A>C (p.Leu296=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2856454	NM_052844.4(DYNC2I2):c.906G>A (p.Gly302=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2847483	NM_052844.4(DYNC2I2):c.813+12G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2819127	NM_052844.4(DYNC2I2):c.927A>G (p.Thr309=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2818909	NM_052844.4(DYNC2I2):c.1003G>T (p.Val335Leu)	DYNC2I2, LOC126860772 (V335L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2802937	NM_052844.4(DYNC2I2):c.855G>A (p.Gln285=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2752574	NM_052844.4(DYNC2I2):c.814-10G>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2730135	NM_052844.4(DYNC2I2):c.780G>A (p.Leu260=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2729297	NM_052844.4(DYNC2I2):c.982-9T>C	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2727562	NM_052844.4(DYNC2I2):c.813+19G>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2716795	NM_052844.4(DYNC2I2):c.813+11G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2703022	NM_052844.4(DYNC2I2):c.1098T>C (p.Ala366=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2630985	NM_052844.4(DYNC2I2):c.877G>T (p.Gly293Trp)	DYNC2I2, LOC126860772 (G293W)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder	GUncertain significance
Select item 2553738	NM_052844.4(DYNC2I2):c.721G>A (p.Glu241Lys)	DYNC2I2, LOC126860772 (E241K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2438570	NM_052844.4(DYNC2I2):c.805G>C (p.Val269Leu)	DYNC2I2, LOC126860772 (V269L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2421294	NM_052844.4(DYNC2I2):c.952C>G (p.Gln318Glu)	DYNC2I2, LOC126860772 (Q318E)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2418432	NM_052844.4(DYNC2I2):c.1169C>G (p.Pro390Arg)	DYNC2I2, LOC126860772 (P390R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2415796	NM_052844.4(DYNC2I2):c.1062G>A (p.Thr354=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2202646	NM_052844.4(DYNC2I2):c.1115C>T (p.Thr372Met)	DYNC2I2, LOC126860772 (T372M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2200128	NM_052844.4(DYNC2I2):c.1173C>T (p.His391=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2196544	NM_052844.4(DYNC2I2):c.937G>A (p.Ala313Thr)	DYNC2I2, LOC126860772 (A313T)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2193775	NM_052844.4(DYNC2I2):c.743G>A (p.Ser248Asn)	DYNC2I2, LOC126860772 (S248N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2187704	NM_052844.4(DYNC2I2):c.834T>A (p.Pro278=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2184285	NM_052844.4(DYNC2I2):c.929A>G (p.Glu310Gly)	DYNC2I2, LOC126860772 (E310G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2167074	NM_052844.4(DYNC2I2):c.936C>T (p.Phe312=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2160994	NM_052844.4(DYNC2I2):c.1024T>C (p.Phe342Leu)	DYNC2I2, LOC126860772 (F342L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2159297	NM_052844.4(DYNC2I2):c.1191T>A (p.Ser397=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2158517	NM_052844.4(DYNC2I2):c.1089C>T (p.Ser363=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2153405	NM_052844.4(DYNC2I2):c.1076C>T (p.Pro359Leu)	DYNC2I2, LOC126860772 (P359L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2152142	NM_052844.4(DYNC2I2):c.1118G>A (p.Arg373Gln)	DYNC2I2, LOC126860772 (R373Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2145295	NM_052844.4(DYNC2I2):c.1077G>A (p.Pro359=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2143872	NM_052844.4(DYNC2I2):c.716G>T (p.Ser239Ile)	DYNC2I2, LOC126860772 (S239I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2142450	NM_052844.4(DYNC2I2):c.1112T>G (p.Leu371Arg)	DYNC2I2, LOC126860772 (L371R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2135097	NM_052844.4(DYNC2I2):c.1108G>T (p.Ala370Ser)	DYNC2I2, LOC126860772 (A370S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2132318	NM_052844.4(DYNC2I2):c.1189T>C (p.Ser397Pro)	LOC126860772, DYNC2I2 (S397P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2123888	NM_052844.4(DYNC2I2):c.1097C>G (p.Ala366Gly)	DYNC2I2, LOC126860772 (A366G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2123459	NM_052844.4(DYNC2I2):c.982-12A>G	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2119155	NM_052844.4(DYNC2I2):c.965G>A (p.Ser322Asn)	DYNC2I2, LOC126860772 (S322N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2109789	NM_052844.4(DYNC2I2):c.1186T>C (p.Tyr396His)	DYNC2I2, LOC126860772 (Y396H)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2109376	NM_052844.4(DYNC2I2):c.955del (p.Leu319fs)	DYNC2I2, LOC126860772 (L319fs)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2108466	NM_052844.4(DYNC2I2):c.1135C>T (p.Pro379Ser)	DYNC2I2, LOC126860772 (P379S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2105172	NM_052844.4(DYNC2I2):c.906G>T (p.Gly302=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2102116	NM_052844.4(DYNC2I2):c.1201T>C (p.Ser401Pro)	DYNC2I2, LOC126860772 (S401P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2100592	NM_052844.4(DYNC2I2):c.706G>A (p.Gly236Arg)	DYNC2I2, LOC126860772 (G236R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2095491	NM_052844.4(DYNC2I2):c.1165_1167del (p.Ser389del)	DYNC2I2, LOC126860772 (S389del)	Deletion (inframe_deletion)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2087009	NM_052844.4(DYNC2I2):c.869C>T (p.Ala290Val)	DYNC2I2, LOC126860772 (A290V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2086038	NM_052844.4(DYNC2I2):c.829G>A (p.Glu277Lys)	DYNC2I2, LOC126860772 (E277K)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2081548	NM_052844.4(DYNC2I2):c.1141C>T (p.Arg381Trp)	DYNC2I2, LOC126860772 (R381W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2081312	NM_052844.4(DYNC2I2):c.1176C>T (p.Gly392=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2074253	NM_052844.4(DYNC2I2):c.1171C>A (p.His391Asn)	DYNC2I2, LOC126860772 (H391N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2073299	NM_052844.4(DYNC2I2):c.858G>A (p.Val286=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2062451	NM_052844.4(DYNC2I2):c.758C>T (p.Pro253Leu)	LOC126860772, DYNC2I2 (P253L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2057434	NM_052844.4(DYNC2I2):c.1117_1118del (p.Arg373fs)	DYNC2I2, LOC126860772 (R373fs)	Microsatellite (frameshift variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GPathogenic
Select item 2049281	NM_052844.4(DYNC2I2):c.1155G>C (p.Gln385His)	DYNC2I2, LOC126860772 (Q385H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2048814	NM_052844.4(DYNC2I2):c.903C>G (p.Ile301Met)	DYNC2I2, LOC126860772 (I301M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2037720	NM_052844.4(DYNC2I2):c.1171C>T (p.His391Tyr)	DYNC2I2, LOC126860772 (H391Y)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2036052	NM_052844.4(DYNC2I2):c.1182C>T (p.Pro394=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 2019031	NM_052844.4(DYNC2I2):c.946A>T (p.Met316Leu)	DYNC2I2, LOC126860772 (M316L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2018074	NM_052844.4(DYNC2I2):c.806T>C (p.Val269Ala)	DYNC2I2, LOC126860772 (V269A)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2015481	NM_052844.4(DYNC2I2):c.1178G>A (p.Gly393Asp)	DYNC2I2, LOC126860772 (G393D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 2003231	NM_052844.4(DYNC2I2):c.981+4C>G	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1989554	NM_052844.4(DYNC2I2):c.1063G>C (p.Glu355Gln)	DYNC2I2, LOC126860772 (E355Q)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1989088	NM_052844.4(DYNC2I2):c.981+14C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1983826	NM_052844.4(DYNC2I2):c.813+17C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1964952	NM_052844.4(DYNC2I2):c.791C>T (p.Thr264Ile)	DYNC2I2, LOC126860772 (T264I)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1948025	NM_052844.4(DYNC2I2):c.1125C>A (p.Pro375=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1904635	NM_052844.4(DYNC2I2):c.981+12C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1683457	NM_052844.4(DYNC2I2):c.1150G>C (p.Ala384Pro)	DYNC2I2, LOC126860772 (A384P)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681231	NM_052844.4(DYNC2I2):c.738C>T (p.Asp246=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GBenign
Select item 1681230	NM_052844.4(DYNC2I2):c.741G>A (p.Leu247=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681229	NM_052844.4(DYNC2I2):c.745C>T (p.Arg249Cys)	DYNC2I2, LOC126860772 (R249C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681228	NM_052844.4(DYNC2I2):c.746G>A (p.Arg249His)	DYNC2I2, LOC126860772 (R249H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1681227	NM_052844.4(DYNC2I2):c.769C>T (p.Arg257Cys)	DYNC2I2, LOC126860772 (R257C)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 1681226	NM_052844.4(DYNC2I2):c.813+18C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681225	NM_052844.4(DYNC2I2):c.813+19G>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681224	NM_052844.4(DYNC2I2):c.814-16C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681223	NM_052844.4(DYNC2I2):c.814-8T>C	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681222	NM_052844.4(DYNC2I2):c.842G>A (p.Ser281Asn)	DYNC2I2, LOC126860772 (S281N)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681221	NM_052844.4(DYNC2I2):c.856G>A (p.Val286Met)	DYNC2I2, LOC126860772 (V286M)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 1681220	NM_052844.4(DYNC2I2):c.899G>T (p.Gly300Val)	DYNC2I2, LOC126860772 (G300V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681219	NM_052844.4(DYNC2I2):c.904G>A (p.Gly302Arg)	DYNC2I2, LOC126860772 (G302R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1681218	NM_052844.4(DYNC2I2):c.911G>T (p.Gly304Val)	DYNC2I2, LOC126860772 (G304V)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681217	NM_052844.4(DYNC2I2):c.961C>T (p.Arg321Trp)	DYNC2I2, LOC126860772 (R321W)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 1681216	NM_052844.4(DYNC2I2):c.981+4C>T	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681215	NM_052844.4(DYNC2I2):c.981+15G>A	LOC126860772, DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681214	NM_052844.4(DYNC2I2):c.982-20C>A	DYNC2I2, LOC126860772	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681213	NM_052844.4(DYNC2I2):c.988C>T (p.Arg330Cys)	DYNC2I2, LOC126860772 (R330C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1681212	NM_052844.4(DYNC2I2):c.990C>T (p.Arg330=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681211	NM_052844.4(DYNC2I2):c.991G>A (p.Gly331Arg)	DYNC2I2, LOC126860772 (G331R)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance
Select item 1681210	NM_052844.4(DYNC2I2):c.999C>T (p.Thr333=)	DYNC2I2, LOC126860772	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GLikely benign
Select item 1681209	NM_052844.4(DYNC2I2):c.1006G>A (p.Gly336Ser)	DYNC2I2, LOC126860772 (G336S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly	GUncertain significance

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