ClinVar for MedGen (Select 78548) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255315	NM_001377.3(DYNC2H1):c.3404A>T (p.Glu1135Val)	DYNC2H1 (E1135V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3246846	NC_000003.11:g.(?_159986181)_(160021797_?)del	IFT80	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244579	NC_000011.9:g.(?_103128360)_(103282954_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244578	NC_000011.9:g.(?_103020818)_(103025478_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3244577	NC_000011.9:g.(?_103013977)_(103102095_?)dup	DYNC2H1	Duplication	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3244576	NC_000011.9:g.(?_103306651)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244575	NC_000011.9:g.(?_103270371)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244574	NC_000011.9:g.(?_103270371)_(103306780_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244572	NC_000011.9:g.(?_103228951)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244571	NC_000011.9:g.(?_103191738)_(103339453_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244570	NC_000011.9:g.(?_103173802)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244569	NC_000011.9:g.(?_103151057)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244568	NC_000011.9:g.(?_103126124)_(103128500_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244567	NC_000011.9:g.(?_103112236)_(103116123_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244566	NC_000011.9:g.(?_103090624)_(103092902_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244565	NC_000011.9:g.(?_103055605)_(103063013_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244564	NC_000011.9:g.(?_103349803)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244563	NC_000011.9:g.(?_103123994)_(103124197_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244561	NC_000011.9:g.(?_103115960)_(103116123_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244560	NC_000011.9:g.(?_103036607)_(103036797_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3075735	NM_001377.3:c.[5971A>T];[6010A>G]			Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3023895	NM_001377.3(DYNC2H1):c.11095+7G>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023499	NM_001377.3(DYNC2H1):c.8312-9A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023033	NM_001377.3(DYNC2H1):c.503-18C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3023023	NM_001377.3(DYNC2H1):c.4379-5T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022890	NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)	DYNC2H1 (R150*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3022875	NM_001377.3(DYNC2H1):c.12366+16C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022738	NM_001377.3(DYNC2H1):c.6893+17C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022664	NM_001377.3(DYNC2H1):c.4611+14C>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022528	NM_001377.3(DYNC2H1):c.11256+1G>T	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3022332	NM_001377.3(DYNC2H1):c.8311+7G>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022140	NM_001377.3(DYNC2H1):c.7840-20T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3022126	NM_001377.3(DYNC2H1):c.6582G>A (p.Arg2194=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3021585	NM_001377.3(DYNC2H1):c.7806A>G (p.Leu2602=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3021542	NM_001377.3(DYNC2H1):c.993T>A (p.Leu331=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020826	NM_001377.3(DYNC2H1):c.6649C>T (p.Arg2217Ter)	DYNC2H1 (R2217*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3020722	NM_001377.3(DYNC2H1):c.9107+15T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020690	NM_001377.3(DYNC2H1):c.11808C>T (p.Asp3936=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020669	NM_001377.3(DYNC2H1):c.12765+18A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020665	NM_001377.3(DYNC2H1):c.3573+19T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020660	NM_001377.3(DYNC2H1):c.11367G>A (p.Leu3789=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020651	NM_001377.3(DYNC2H1):c.12157-18A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020646	NM_001377.3(DYNC2H1):c.375A>G (p.Glu125=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020613	NM_001377.3(DYNC2H1):c.12861A>G (p.Pro4287=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020231	NM_001377.3(DYNC2H1):c.2919T>C (p.Tyr973=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020205	NM_001377.3(DYNC2H1):c.11494-16T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3020057	NM_001377.3(DYNC2H1):c.2203C>T (p.Gln735Ter)	DYNC2H1 (Q735*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3020026	NM_001377.3(DYNC2H1):c.2187A>G (p.Leu729=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019990	NM_001377.3(DYNC2H1):c.5469G>A (p.Glu1823=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019950	NM_001377.3(DYNC2H1):c.7741_7744del (p.Asn2581fs)	DYNC2H1 (N2581fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 3019889	NM_001377.3(DYNC2H1):c.2568A>G (p.Gln856=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019883	NM_001377.3(DYNC2H1):c.367-14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019876	NM_001377.3(DYNC2H1):c.1248+10T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019871	NM_001377.3(DYNC2H1):c.6808C>T (p.Arg2270Ter)	DYNC2H1 (R2270*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3019848	NM_001377.3(DYNC2H1):c.3458+17A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019597	NM_001377.3(DYNC2H1):c.11340G>A (p.Lys3780=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019584	NM_001377.3(DYNC2H1):c.8311+15A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019502	NM_001377.3(DYNC2H1):c.11257-17T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019461	NM_001377.3(DYNC2H1):c.8268A>G (p.Ser2756=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019398	NM_001377.3(DYNC2H1):c.11096-8T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019310	NM_001377.3(DYNC2H1):c.1647C>T (p.Ser549=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019150	NM_001377.3(DYNC2H1):c.10252C>T (p.Gln3418Ter)	DYNC2H1 (Q3425* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3019140	NM_001377.3(DYNC2H1):c.9819+18A>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019130	NM_001377.3(DYNC2H1):c.3574-19T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3019129	NM_001377.3(DYNC2H1):c.3574-20del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018617	NM_001377.3(DYNC2H1):c.6510G>A (p.Gly2170=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018399	NM_001377.3(DYNC2H1):c.3093C>T (p.Asp1031=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018385	NM_001377.3(DYNC2H1):c.4701G>A (p.Leu1567=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018259	NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018203	NM_001377.3(DYNC2H1):c.8833-10A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018114	NM_001377.3(DYNC2H1):c.1569C>T (p.Leu523=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018083	NM_001377.3(DYNC2H1):c.4155C>T (p.Asp1385=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3018017	NM_001377.3(DYNC2H1):c.384A>G (p.Arg128=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017959	NM_001377.3(DYNC2H1):c.9232-16C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017948	NM_001377.3(DYNC2H1):c.11494-18T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017939	NM_001377.3(DYNC2H1):c.4379-16T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017935	NM_001377.3(DYNC2H1):c.9870G>A (p.Trp3290Ter)	DYNC2H1 (W3297* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3017598	NM_001377.3(DYNC2H1):c.12457-6C>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017477	NM_001377.3(DYNC2H1):c.6579A>C (p.Ile2193=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017405	NM_001377.3(DYNC2H1):c.10884A>G (p.Thr3628=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017199	NM_001377.3(DYNC2H1):c.3123A>G (p.Lys1041=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3017056	NM_001377.3(DYNC2H1):c.5178A>G (p.Arg1726=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016785	NM_001377.3(DYNC2H1):c.6612A>C (p.Ser2204=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016773	NM_001377.3(DYNC2H1):c.4413A>G (p.Lys1471=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016727	NM_001377.3(DYNC2H1):c.10891-7T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016295	NM_001377.3(DYNC2H1):c.3574-19T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016266	NM_001377.3(DYNC2H1):c.1245G>A (p.Gln415=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016162	NM_001377.3(DYNC2H1):c.1485+7A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3016132	NM_001377.3(DYNC2H1):c.3745-7T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015998	NM_001377.3(DYNC2H1):c.8820A>G (p.Thr2940=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015861	NM_001377.3(DYNC2H1):c.12649-7A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015404	NM_001377.3(DYNC2H1):c.12649-16T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015326	NM_001377.3(DYNC2H1):c.5679T>C (p.Asn1893=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015188	NM_001377.3(DYNC2H1):c.2548T>C (p.Leu850=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3015182	NM_001377.3(DYNC2H1):c.4716G>A (p.Glu1572=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3014603	NM_001377.3(DYNC2H1):c.8540-14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3014563	NM_001377.3(DYNC2H1):c.12218T>C (p.Leu4073Pro)	DYNC2H1 (L4080P +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3014537	NM_001377.3(DYNC2H1):c.3145C>T (p.Gln1049Ter)	DYNC2H1 (Q1049*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 3014530	NM_001377.3(DYNC2H1):c.12366+17T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3014515	NM_001377.3(DYNC2H1):c.2818+10C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign

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