C0036069[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879361	NM_001377.3(DYNC2H1):c.-148T>C	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 301993	NM_001377.3(DYNC2H1):c.-94G>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 301994	NM_001377.3(DYNC2H1):c.-33C>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 301995	NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 193155	NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 301996	NM_001377.3(DYNC2H1):c.195+7T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 301997	NM_001377.3(DYNC2H1):c.196-13T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 301998	NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly)	DYNC2H1 (E89G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 879727	NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys)	DYNC2H1 (N94K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 301999	NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 302000	NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)	DYNC2H1 (R113W)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +2 more	GUncertain significance
Select item 302001	NM_001377.3(DYNC2H1):c.366+10G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 302002	NM_001377.3(DYNC2H1):c.391G>C (p.Asp131His)	DYNC2H1 (D131H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 302003	NM_001377.3(DYNC2H1):c.539T>C (p.Ile180Thr)	DYNC2H1 (I180T)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 302004	NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 302005	NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)	DYNC2H1 (Q304L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302006	NM_001377.3(DYNC2H1):c.1000-7A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302007	NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)	DYNC2H1 (A336V)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 302008	NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)	DYNC2H1 (H341Y)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302009	NM_001377.3(DYNC2H1):c.1134+8A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302010	NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 302011	NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)	DYNC2H1 (F421L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +5 more	GConflicting classifications of pathogenicity
Select item 302012	NM_001377.3(DYNC2H1):c.1320A>C (p.Glu440Asp)	DYNC2H1 (E440D)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 878814	NM_001377.3(DYNC2H1):c.1350C>T (p.Asp450=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302013	NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)	DYNC2H1 (R456Q)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 878815	NM_001377.3(DYNC2H1):c.1384C>T (p.Arg462Trp)	DYNC2H1 (R462W)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 878816	NM_001377.3(DYNC2H1):c.1484A>G (p.Lys495Arg)	DYNC2H1 (K495R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 287980	NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)	DYNC2H1 (K495T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 302014	NM_001377.3(DYNC2H1):c.1506T>C (p.Ile502=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 501583	NM_001377.3(DYNC2H1):c.1662-3T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 879398	NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)	DYNC2H1 (R578G)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 216489	NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)	DYNC2H1 (L592F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 302015	NM_001377.3(DYNC2H1):c.2106+5A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 302016	NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 879399	NM_001377.3(DYNC2H1):c.2312A>C (p.Asn771Thr)	DYNC2H1 (N771T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 879781	NM_001377.3(DYNC2H1):c.2345+9T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302017	NM_001377.3(DYNC2H1):c.2385C>G (p.Ile795Met)	DYNC2H1 (I795M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GUncertain significance
Select item 879782	NM_001377.3(DYNC2H1):c.2439T>C (p.Phe813=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 302018	NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302019	NM_001377.3(DYNC2H1):c.2470A>G (p.Ile824Val)	DYNC2H1 (I824V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 302020	NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val)	DYNC2H1 (I827V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 879783	NM_001377.3(DYNC2H1):c.2533G>A (p.Asp845Asn)	DYNC2H1 (D845N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302021	NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 877835	NM_001377.3(DYNC2H1):c.2574+9C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 877836	NM_001377.3(DYNC2H1):c.2669A>T (p.Lys890Ile)	DYNC2H1 (K890I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302022	NM_001377.3(DYNC2H1):c.2818+13T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 877837	NM_001377.3(DYNC2H1):c.2828A>G (p.His943Arg)	DYNC2H1 (H943R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 188134	NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)	DYNC2H1 (E954K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 302023	NM_001377.3(DYNC2H1):c.2922T>C (p.Ser974=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 877838	NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)	DYNC2H1 (R979W)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 302024	NM_001377.3(DYNC2H1):c.3012T>C (p.Gly1004=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 877995	NM_001377.3(DYNC2H1):c.3046G>C (p.Asp1016His)	DYNC2H1 (D1016H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 877996	NM_001377.3(DYNC2H1):c.3128G>A (p.Arg1043His)	DYNC2H1 (R1043H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 877997	NM_001377.3(DYNC2H1):c.3138C>G (p.Ile1046Met)	DYNC2H1 (I1046M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 281379	NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His)	DYNC2H1 (R1057H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195660	NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)	DYNC2H1 (L1061V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 302025	NM_001377.3(DYNC2H1):c.3419G>T (p.Gly1140Val)	DYNC2H1 (G1140V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 302026	NM_001377.3(DYNC2H1):c.3573+5G>T	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 302027	NM_001377.3(DYNC2H1):c.3643C>T (p.Arg1215Cys)	DYNC2H1 (R1215C)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 302028	NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 302029	NM_001377.3(DYNC2H1):c.3662G>C (p.Arg1221Thr)	DYNC2H1 (R1221T)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 220459	NM_001377.3(DYNC2H1):c.3665G>A (p.Gly1222Glu)	DYNC2H1 (G1222E)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +4 more	GConflicting classifications of pathogenicity
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 879459	NM_001377.3(DYNC2H1):c.3685C>G (p.Leu1229Val)	DYNC2H1 (L1229V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302030	NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 879460	NM_001377.3(DYNC2H1):c.3744A>G (p.Lys1248=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 284622	NM_001377.3(DYNC2H1):c.3794G>A (p.Arg1265His)	DYNC2H1 (R1265H)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 302031	NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala)	DYNC2H1 (T1288A)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 879820	NM_001377.3(DYNC2H1):c.3920G>A (p.Cys1307Tyr)	DYNC2H1 (C1307Y)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302032	NM_001377.3(DYNC2H1):c.4002G>A (p.Glu1334=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 302033	NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 302034	NM_001377.3(DYNC2H1):c.4127+10A>G	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +2 more	GConflicting classifications of pathogenicity
Select item 196010	NM_001377.3(DYNC2H1):c.4192A>C (p.Arg1398=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Short rib-polydactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 196009	NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)	DYNC2H1 (K1413R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 512239	NM_001377.3(DYNC2H1):c.4312T>C (p.Leu1438=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 302035	NM_001377.3(DYNC2H1):c.4497G>T (p.Trp1499Cys)	DYNC2H1 (W1499C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GUncertain significance
Select item 302036	NM_001377.3(DYNC2H1):c.4561A>G (p.Thr1521Ala)	DYNC2H1 (T1521A)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +2 more	GUncertain significance
Select item 877880	NM_001377.3(DYNC2H1):c.4597C>A (p.Leu1533Met)	DYNC2H1 (L1533M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 302037	NM_001377.3(DYNC2H1):c.4611+14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 877881	NM_001377.3(DYNC2H1):c.4718A>C (p.Gln1573Pro)	DYNC2H1 (Q1573P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 459280	NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 379420	NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys)	DYNC2H1 (N1576K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
Select item 302038	NM_001377.3(DYNC2H1):c.4808T>G (p.Ile1603Ser)	DYNC2H1 (I1603S)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance
Select item 878043	NM_001377.3(DYNC2H1):c.4900A>G (p.Met1634Val)	DYNC2H1 (M1634V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 302039	NM_001377.3(DYNC2H1):c.4918T>C (p.Cys1640Arg)	DYNC2H1 (C1640R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 878044	NM_001377.3(DYNC2H1):c.4923T>C (p.Cys1641=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302040	NM_001377.3(DYNC2H1):c.4959T>C (p.Tyr1653=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 302042	NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser)	DYNC2H1 (G1738S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 302043	NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 879507	NM_001377.3(DYNC2H1):c.5335-11T>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 439628	NM_001377.3(DYNC2H1):c.5449A>G (p.Met1817Val)	DYNC2H1 (M1817V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 302045	NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 697335	NM_001377.3(DYNC2H1):c.5508A>G (p.Lys1836=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302046	NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 302047	NM_001377.3(DYNC2H1):c.5512G>A (p.Ala1838Thr)	DYNC2H1 (A1838T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 302048	NM_001377.3(DYNC2H1):c.5558+4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 302049	NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys)	DYNC2H1 (R1881K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 167010	NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)	DYNC2H1 (V1899I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 167011	NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 302050	NM_001377.3(DYNC2H1):c.5791T>A (p.Leu1931Met)	DYNC2H1 (L1931M)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +1 more	GUncertain significance

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