"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DYNC2H1 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1983801	NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)	DYNC2H1 (M1V)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 934203	NM_001377.3(DYNC2H1):c.2del (p.Met1fs)	DYNC2H1 (M1fs)	Deletion (frameshift variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1598290	NM_001377.3(DYNC2H1):c.9C>T (p.Asn3=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2855499	NM_001377.3(DYNC2H1):c.15T>C (p.Thr5=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301995	NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 506321	NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 193155	NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 2159867	NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)	DYNC2H1 (F12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1937036	NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)	DYNC2H1 (T15S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2980221	NM_001377.3(DYNC2H1):c.45T>C (p.Thr15=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2830729	NM_001377.3(DYNC2H1):c.51C>A (p.Thr17=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1522304	NM_001377.3(DYNC2H1):c.54G>T (p.Gln18His)	DYNC2H1 (Q18H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2748903	NM_001377.3(DYNC2H1):c.60C>T (p.Tyr20=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 698370	NM_001377.3(DYNC2H1):c.64G>C (p.Gly22Arg)	DYNC2H1 (G22R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2914096	NM_001377.3(DYNC2H1):c.66G>T (p.Gly22=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2180472	NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)	DYNC2H1 (M24I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2985107	NM_001377.3(DYNC2H1):c.108T>C (p.Cys36=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2721172	NM_001377.3(DYNC2H1):c.132T>C (p.Asp44=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2881363	NM_001377.3(DYNC2H1):c.138C>T (p.Gly46=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2740000	NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)	DYNC2H1 (M49L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
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 739999	NM_001377.3(DYNC2H1):c.163C>A (p.Arg55=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885697	NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)	DYNC2H1 (A58P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1719919	NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)	DYNC2H1 (A58G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 704982	NM_001377.3(DYNC2H1):c.183C>G (p.Ser61=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2115130	NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)	DYNC2H1 (N64K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2799294	NM_001377.3(DYNC2H1):c.195+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 528899	NM_001377.3(DYNC2H1):c.195+5G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2767343	NM_001377.3(DYNC2H1):c.195+7T>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301996	NM_001377.3(DYNC2H1):c.195+7T>C	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2991114	NM_001377.3(DYNC2H1):c.195+12T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2718137	NM_001377.3(DYNC2H1):c.195+14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2896535	NM_001377.3(DYNC2H1):c.195+16C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2160909	NM_001377.3(DYNC2H1):c.195+19C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2906500	NM_001377.3(DYNC2H1):c.196-17A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2730448	NM_001377.3(DYNC2H1):c.196-9T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2733655	NM_001377.3(DYNC2H1):c.196-7A>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1345798	NM_001377.3(DYNC2H1):c.196-6C>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2744337	NM_001377.3(DYNC2H1):c.196-5T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2002527	NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)	DYNC2H1 (K72N)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2724256	NM_001377.3(DYNC2H1):c.219T>C (p.Asp73=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 665199	NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu)	DYNC2H1 (V85E)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2905400	NM_001377.3(DYNC2H1):c.255A>G (p.Val85=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2152393	NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)	DYNC2H1 (N90S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 2840683	NM_001377.3(DYNC2H1):c.270T>C (p.Asn90=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301999	NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2705973	NM_001377.3(DYNC2H1):c.298_299del (p.Met100fs)	DYNC2H1 (M100fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 2995181	NM_001377.3(DYNC2H1):c.315T>A (p.Ile105=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 992905	NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)	DYNC2H1 (S106N)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 2861556	NM_001377.3(DYNC2H1):c.324T>G (p.Leu108=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 446610	NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)	DYNC2H1 (Y109*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 2753208	NM_001377.3(DYNC2H1):c.336A>G (p.Val112=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2865996	NM_001377.3(DYNC2H1):c.342A>G (p.Gln114=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1405958	NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser)	DYNC2H1 (F116S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 511923	NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2979427	NM_001377.3(DYNC2H1):c.354A>G (p.Pro118=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2878580	NM_001377.3(DYNC2H1):c.360G>A (p.Leu120=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2102791	NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)	DYNC2H1 (K122T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2956660	NM_001377.3(DYNC2H1):c.366+8A>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 302001	NM_001377.3(DYNC2H1):c.366+10G>A	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 1597334	NM_001377.3(DYNC2H1):c.366+12A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2055957	NM_001377.3(DYNC2H1):c.366+16G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2852888	NM_001377.3(DYNC2H1):c.366+18C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1670348	NM_001377.3(DYNC2H1):c.366+19A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1596105	NM_001377.3(DYNC2H1):c.366+27dup	DYNC2H1	Duplication (intron variant)	Jeune thoracic dystrophy	GBenign
Select item 1989421	NM_001377.3(DYNC2H1):c.366+27del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy	GBenign
Select item 3019883	NM_001377.3(DYNC2H1):c.367-14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2700127	NM_001377.3(DYNC2H1):c.367-11T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2797995	NM_001377.3(DYNC2H1):c.367-5T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 591376	NM_001377.3(DYNC2H1):c.367-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3013461	NM_001377.3(DYNC2H1):c.372G>A (p.Gln124=)	DYNC2H1	Single nucleotide variant (synonymous 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 3018017	NM_001377.3(DYNC2H1):c.384A>G (p.Arg128=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 302002	NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His)	DYNC2H1 (D131H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GUncertain significance
Select item 1999581	NM_001377.3(DYNC2H1):c.408T>C (p.Asn136=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2861569	NM_001377.3(DYNC2H1):c.423A>G (p.Leu141=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3000581	NM_001377.3(DYNC2H1):c.433T>C (p.Leu145=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2701011	NM_001377.3(DYNC2H1):c.435G>A (p.Leu145=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2860097	NM_001377.3(DYNC2H1):c.438T>G (p.Gly146=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1433860	NM_001377.3(DYNC2H1):c.439A>G (p.Ile147Val)	DYNC2H1 (I147V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 3022890	NM_001377.3(DYNC2H1):c.448C>T (p.Arg150Ter)	DYNC2H1 (R150*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 2072968	NM_001377.3(DYNC2H1):c.456A>G (p.Ser152=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2149941	NM_001377.3(DYNC2H1):c.459C>T (p.Asp153=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2145483	NM_001377.3(DYNC2H1):c.463A>C (p.Asn155His)	DYNC2H1 (N155H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 459279	NM_001377.3(DYNC2H1):c.466T>A (p.Leu156Ile)	DYNC2H1 (L156I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 993931	NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)	DYNC2H1 (L159S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 1939028	NM_001377.3(DYNC2H1):c.489A>G (p.Glu163=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 3008752	NM_001377.3(DYNC2H1):c.495C>T (p.Asp165=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1944224	NM_001377.3(DYNC2H1):c.496A>G (p.Thr166Ala)	DYNC2H1 (T166A)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 1962584	NM_001377.3(DYNC2H1):c.499C>A (p.Arg167=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1333515	NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter)	DYNC2H1 (R167*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 1898777	NM_001377.3(DYNC2H1):c.500G>A (p.Arg167Gln)	DYNC2H1 (R167Q)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2883300	NM_001377.3(DYNC2H1):c.502+9C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2809406	NM_001377.3(DYNC2H1):c.502+11A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2730362	NM_001377.3(DYNC2H1):c.502+13A>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2785172	NM_001377.3(DYNC2H1):c.502+20T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2749138	NM_001377.3(DYNC2H1):c.503-20T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2825245	NM_001377.3(DYNC2H1):c.503-19C>T	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 511587	NM_001377.3(DYNC2H1):c.503-18C>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign

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