ClinVar for MedGen (Select 1676961) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064439	NM_003282.4(TNNI2):c.486G>T (p.Arg162Ser)	TNNI2 (R162S)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 3024260	NM_003282.4(TNNI2):c.454-2A>G	TNNI2	Single nucleotide variant (splice acceptor variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 2506365	NM_003282.4(TNNI2):c.496G>T (p.Glu166Ter)	TNNI2 (E166*)	Single nucleotide variant (nonsense)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 2437135	NM_003282.4(TNNI2):c.275_276+1del	TNNI2	Microsatellite (splice donor variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 2434182	NM_003282.4(TNNI2):c.503_505dup (p.Ser169Ter)	TNNI2 (S169*)	Duplication (nonsense)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 1708947	NM_003282.4(TNNI2):c.9-1G>C	TNNI2	Single nucleotide variant (splice acceptor variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1683605	NM_003282.4(TNNI2):c.368T>C (p.Leu123Pro)	TNNI2 (L123P)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1333897	NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)	TNNI2 (R174W)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 1326277	NM_003282.4(TNNI2):c.532T>A (p.Phe178Ile)	TNNI2 (F178I)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1034306	NM_006757.4(TNNT3):c.480+8C>T	TNNT3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 1028552	NM_006757.4(TNNT3):c.757G>C (p.Val253Leu)	TNNT3 (V249L +8 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 975914	NM_003282.4(TNNI2):c.530T>C (p.Met177Thr)	TNNI2 (M177T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 892496	NM_002470.4(MYH3):c.2523C>T (p.Leu841=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 891748	NM_002470.4(MYH3):c.297G>A (p.Glu99=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891747	NM_002470.4(MYH3):c.298C>T (p.Pro100Ser)	MYH3 (P100S)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 891746	NM_002470.4(MYH3):c.347A>G (p.Tyr116Cys)	MYH3 (Y116C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891614	NM_002470.4(MYH3):c.1881G>A (p.Thr627=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 891422	NM_002470.4(MYH3):c.1130A>G (p.Asp377Gly)	MYH3 (D377G)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 891299	NM_002470.4(MYH3):c.2716T>A (p.Cys906Ser)	MYH3 (C906S)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 889940	NM_002470.4(MYH3):c.505+12A>G	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 889939	NM_002470.4(MYH3):c.509G>A (p.Arg170His)	MYH3 (R170H)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 889938	NM_002470.4(MYH3):c.571C>T (p.Arg191Trp)	MYH3 (R191W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889317	NM_002470.4(MYH3):c.207C>G (p.Thr69=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 889201	NM_002470.4(MYH3):c.1628A>T (p.Lys543Met)	MYH3 (K543M)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 889125	NM_002470.4(MYH3):c.2517C>A (p.Pro839=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 888128	NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly)	MYH3 (D1744G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888127	NM_002470.4(MYH3):c.5250G>A (p.Arg1750=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 888073	NM_002470.4(MYH3):c.5797-12C>G	MYH3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 887120	NM_002470.4(MYH3):c.3252A>T (p.Lys1084Asn)	MYH3 (K1084N)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 887119	NM_002470.4(MYH3):c.3270A>G (p.Gln1090=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 887057	NM_002470.4(MYH3):c.3594G>T (p.Ala1198=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886990	NM_002470.4(MYH3):c.4148G>A (p.Arg1383His)	MYH3 (R1383H)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GUncertain significance
Select item 886928	NM_002470.4(MYH3):c.4734C>T (p.Ala1578=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 886927	NM_002470.4(MYH3):c.4752C>T (p.Ile1584=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 886856	NM_002470.4(MYH3):c.5253C>T (p.Asn1751=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 886115	NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln)	MYH3 (E1149Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 886057	NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr)	MYH3 (S1240T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +3 more	GConflicting classifications of pathogenicity
Select item 885992	NM_002470.4(MYH3):c.4203C>T (p.Ser1401=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 885920	NM_002470.4(MYH3):c.4941C>T (p.Val1647=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GBenign/Likely benign
Select item 885919	NM_002470.4(MYH3):c.4957-5G>T	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 885918	NM_002470.4(MYH3):c.5034A>G (p.Arg1678=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 885220	NM_002470.4(MYH3):c.3468C>T (p.Gly1156=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 885219	NM_002470.4(MYH3):c.3532G>A (p.Asp1178Asn)	MYH3 (D1178N)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 885149	NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys)	MYH3 (E1284K)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 885148	NM_002470.4(MYH3):c.3945G>A (p.Glu1315=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 885072	NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg)	MYH3 (K1484R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 885071	NM_002470.4(MYH3):c.4529T>C (p.Ile1510Thr)	MYH3 (I1510T)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 885070	NM_002470.4(MYH3):c.4591A>G (p.Arg1531Gly)	MYH3 (R1531G)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 885069	NM_002470.4(MYH3):c.4635C>T (p.Leu1545=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885006	NM_002470.4(MYH3):c.5052C>G (p.Ala1684=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 880108	NM_006757.4(TNNT3):c.*57C>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 880041	NM_006757.4(TNNT3):c.257A>G (p.Glu86Gly)	TNNT3 (E18G +8 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 879927	NM_003282.4(TNNI2):c.276+12C>T	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 879570	NM_003282.4(TNNI2):c.171C>A (p.Ser57=)	TNNI2	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 878292	NM_006757.4(TNNT3):c.591-12C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878291	NM_006757.4(TNNT3):c.504G>A (p.Lys168=)	TNNT3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878290	NM_006757.4(TNNT3):c.496G>A (p.Gly166Ser)	TNNT3 (G147S +8 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 877951	NM_003282.4(TNNI2):c.-68C>T	TNNI2	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 877247	NM_006757.4(TNNT3):c.491A>G (p.Lys164Arg)	TNNT3 (K163R +8 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 771968	NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala)	MYH3 (T1692A)	Single nucleotide variant (missense variant)	MYH3-related condition +3 more	GBenign/Likely benign
Select item 705417	NM_002470.4(MYH3):c.5301G>A (p.Ala1767=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 705203	NM_002470.4(MYH3):c.3993G>A (p.Ala1331=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 705049	NM_002470.4(MYH3):c.642+8T>C	MYH3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +2 more	GConflicting classifications of pathogenicity
Select item 705035	NM_002470.4(MYH3):c.3389G>A (p.Arg1130His)	MYH3 (R1130H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 704587	NM_002470.4(MYH3):c.1566C>A (p.Ile522=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 704533	NM_002470.4(MYH3):c.5067G>T (p.Leu1689=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GBenign/Likely benign
Select item 704093	NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr)	MYH3 (A1604T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 703826	NM_002470.4(MYH3):c.453C>T (p.Ala151=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GBenign/Likely benign
Select item 703813	NM_002470.4(MYH3):c.4098T>C (p.Asn1366=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +3 more	GBenign/Likely benign
Select item 694070	NM_003282.4(TNNI2):c.493A>T (p.Ile165Phe)	TNNI2 (I165F)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GPathogenic
Select item 692080	NM_003289.4(TPM2):c.307C>A (p.Gln103Lys)	TPM2 (Q103K)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GLikely pathogenic
Select item 587607	NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln)	MYH3 (E1377Q)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +3 more	GUncertain significance
Select item 548556	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	TPM2 (Q276E)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +2 more	GUncertain significance
Select item 522656	NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys)	MYH3 (R1609K)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 517104	NM_003282.4(TNNI2):c.453+3G>A	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +1 more	GBenign
Select item 321779	NM_002470.4(MYH3):c.-63G>A	MYH3	Single nucleotide variant (5 prime UTR variant)	Freeman-Sheldon syndrome +1 more	GBenign/Likely benign
Select item 321778	NM_002470.4(MYH3):c.-44T>C	MYH3	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321777	NM_002470.4(MYH3):c.-31C>T	MYH3	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321776	NM_002470.4(MYH3):c.-9+4A>T	MYH3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321775	NM_002470.4(MYH3):c.19A>G (p.Met7Val)	MYH3 (M7V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321774	NM_002470.4(MYH3):c.166C>G (p.Gln56Glu)	MYH3 (Q56E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 321773	NM_002470.4(MYH3):c.248C>G (p.Pro83Arg)	MYH3 (P83R)	Single nucleotide variant (missense variant)	MYH3-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 321772	NM_002470.4(MYH3):c.252G>A (p.Lys84=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +4 more	GBenign/Likely benign
Select item 321771	NM_002470.4(MYH3):c.412G>A (p.Glu138Lys)	MYH3 (E138K)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 321770	NM_002470.4(MYH3):c.440A>G (p.Lys147Arg)	MYH3 (K147R)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321769	NM_002470.4(MYH3):c.459C>T (p.Pro153=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321768	NM_002470.4(MYH3):c.642+10G>A	MYH3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 321767	NM_002470.4(MYH3):c.736-6A>G	MYH3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 321766	NM_002470.4(MYH3):c.800-5T>A	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321765	NM_002470.4(MYH3):c.910A>G (p.Ile304Val)	MYH3 (I304V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 321764	NM_002470.4(MYH3):c.1062G>A (p.Thr354=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321763	NM_002470.4(MYH3):c.1142-3C>G	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
Select item 321762	NM_002470.4(MYH3):c.1211G>C (p.Arg404Thr)	MYH3 (R404T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 more	GUncertain significance
Select item 321760	NM_002470.4(MYH3):c.1411T>C (p.Tyr471His)	MYH3 (Y471H)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +3 more	GConflicting classifications of pathogenicity
Select item 321759	NM_002470.4(MYH3):c.1521C>T (p.Ile507=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GBenign/Likely benign
Select item 321758	NM_002470.4(MYH3):c.1582-6A>G	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GUncertain significance
Select item 321757	NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg)	MYH3 (K568R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321756	NM_002470.4(MYH3):c.1707G>A (p.Val569=)	MYH3	Single nucleotide variant (synonymous variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321755	NM_002470.4(MYH3):c.1872G>A (p.Thr624=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321754	NM_002470.4(MYH3):c.1888+10G>A	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity

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