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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506321	NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 993931	NM_001377.3(DYNC2H1):c.476T>C (p.Leu159Ser)	DYNC2H1 (L159S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
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 811271	NM_001377.3(DYNC2H1):c.899A>G (p.His300Arg)	DYNC2H1 (H300R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 40070	NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	DYNC2H1 (R330C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 421398	NM_001377.3(DYNC2H1):c.1135-11_1135-8del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy +2 more	GLikely benign
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 426435	NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)	DYNC2H1 (R430C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GUncertain significance
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 993463	NM_001377.3(DYNC2H1):c.1469G>A (p.Arg490His)	DYNC2H1 (R490H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 993984	NM_001377.3(DYNC2H1):c.1485+19G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 386707	NM_001377.3(DYNC2H1):c.1661+16T>C	DYNC2H1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 439634	NM_001377.3(DYNC2H1):c.1720C>A (p.His574Asn)	DYNC2H1 (H574N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 220042	NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly)	DYNC2H1 (V586G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811817	NM_001377.3(DYNC2H1):c.1951A>G (p.Lys651Glu)	DYNC2H1 (K651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330422	NM_001377.3(DYNC2H1):c.1953+14T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GBenign/Likely benign
Select item 811099	NM_001377.3(DYNC2H1):c.2000A>G (p.Asn667Ser)	DYNC2H1 (N667S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 696874	NM_001377.3(DYNC2H1):c.2145A>G (p.Gln715=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 695548	NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)	DYNC2H1 (M828V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 558750	NM_001377.3(DYNC2H1):c.2574+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 993765	NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg)	DYNC2H1 (C907R)	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 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 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 618073	NM_001377.3(DYNC2H1):c.2996C>T (p.Thr999Ile)	DYNC2H1 (T999I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
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 195661	NM_001377.3(DYNC2H1):c.3097-4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign
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 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 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 618076	NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related condition +2 more	GLikely benign
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 446562	NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)	DYNC2H1 (R1358H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GUncertain significance
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 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 287528	NM_001377.3(DYNC2H1):c.4916C>A (p.Thr1639Lys)	DYNC2H1 (T1639K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 516226	NM_001377.3(DYNC2H1):c.4968+18G>A	DYNC2H1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 439629	NM_001377.3(DYNC2H1):c.5180T>C (p.Ile1727Thr)	DYNC2H1 (I1727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 220052	NM_001377.3(DYNC2H1):c.5442C>T (p.Pro1814=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
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 283519	NM_001377.3(DYNC2H1):c.5473A>G (p.Ile1825Val)	DYNC2H1 (I1825V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GUncertain significance
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 302051	NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)	DYNC2H1 (L1931F)	Single nucleotide variant (missense variant)	Neonatal respiratory distress +3 more	GConflicting classifications of pathogenicity
Select item 1320477	NM_001377.3(DYNC2H1):c.5930T>C (p.Ile1977Thr)	DYNC2H1 (I1977T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 6513	NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala)	DYNC2H1 (T1987A)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 439632	NM_001377.3(DYNC2H1):c.5972T>A (p.Met1991Lys)	DYNC2H1 (M1991K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 216490	NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	DYNC2H1 (Y2016C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 281777	NM_001377.3(DYNC2H1):c.6093T>G (p.Asp2031Glu)	DYNC2H1 (D2031E)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 439630	NM_001377.3(DYNC2H1):c.6115C>T (p.Arg2039Cys)	DYNC2H1 (R2039C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 446574	NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)	DYNC2H1 (N2091D)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 302053	NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)	DYNC2H1 (S2103T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 302054	NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 506322	NM_001377.3(DYNC2H1):c.6477+14A>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 676011	NM_001377.3(DYNC2H1):c.6478-17C>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 284736	NM_001377.3(DYNC2H1):c.6478-6C>T	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +3 more	GBenign/Likely benign
Select item 281769	NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)	DYNC2H1 (D2184V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 811305	NM_001377.3(DYNC2H1):c.6558C>A (p.Asp2186Glu)	DYNC2H1 (D2186E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 6507	NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	DYNC2H1 (R2205H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 995611	NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser)	DYNC2H1 (T2234S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 281774	NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 302060	NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 281772	NM_001377.3(DYNC2H1):c.7128A>G (p.Ala2376=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 302061	NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 220053	NM_001377.3(DYNC2H1):c.7198A>G (p.Ile2400Val)	DYNC2H1 (I2400V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign
Select item 445783	NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met)	DYNC2H1 (T2440M)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 446605	NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)	DYNC2H1 (R2481*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GPathogenic
Select item 302062	NM_001377.3(DYNC2H1):c.7462G>A (p.Asp2488Asn)	DYNC2H1 (D2488N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 302063	NM_001377.3(DYNC2H1):c.7540+14G>A	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 993514	NM_001377.3(DYNC2H1):c.7540+20A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +1 more	GLikely benign
Select item 446613	NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	DYNC2H1 (R2532W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 386822	NM_001377.3(DYNC2H1):c.7708+9A>G	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 302066	NM_001377.3(DYNC2H1):c.8102C>T (p.Ala2701Val)	DYNC2H1 (A2701V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 994255	NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala)	DYNC2H1 (T2740A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 696537	NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related condition +2 more	GLikely benign
Select item 302070	NM_001377.3(DYNC2H1):c.8365T>C (p.Phe2789Leu)	DYNC2H1 (F2789L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 284909	NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93530	NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)	DYNC2H1 (A2961T)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +4 more	GBenign/Likely benign
Select item 618075	NM_001377.3(DYNC2H1):c.8882C>T (p.Ala2961Val)	DYNC2H1 (A2961V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993843	NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His)	DYNC2H1 (R3004H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	DYNC2H1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 1330380	NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro)	DYNC2H1 (L3017P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 699826	NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GLikely benign
Select item 198017	NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)	DYNC2H1 (A3085V)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 215483	NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 302080	NM_001377.3(DYNC2H1):c.9353+7G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 2920812	NM_001377.3(DYNC2H1):c.9425C>T (p.Ser3142Leu)	DYNC2H1 (S3142L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 618077	NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val)	DYNC2H1 (I3169V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 618612	NM_001377.3(DYNC2H1):c.9585G>C (p.Glu3195Asp)	DYNC2H1 (E3195D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 198331	NM_001377.3(DYNC2H1):c.9749A>G (p.Gln3250Arg)	DYNC2H1 (Q3250R)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +3 more	GConflicting classifications of pathogenicity
Select item 215778	NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)	DYNC2H1 (L3272I)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +4 more	GConflicting classifications of pathogenicity

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