C5193014[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 877951	NM_003282.4(TNNI2):c.-68C>T	TNNI2	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 303934	NM_003282.4(TNNI2):c.-50G>A	TNNI2	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 94120	NM_003282.4(TNNI2):c.60T>C (p.Ser20=)	TNNI2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 259022	NM_003282.4(TNNI2):c.150G>A (p.Pro50=)	TNNI2	Single nucleotide variant (synonymous variant)	TNNI2-related condition +3 more	GBenign
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 879927	NM_003282.4(TNNI2):c.276+12C>T	TNNI2	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1	GUncertain significance
Select item 281740	NM_003282.4(TNNI2):c.333A>G (p.Pro111=)	TNNI2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 303943	NM_003282.4(TNNI2):c.*94C>T	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GBenign/Likely benign
Select item 303967	NM_006757.4(TNNT3):c.-22G>T	TNNT3	Single nucleotide variant (5 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	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 260027	NM_006757.4(TNNT3):c.367-9T>C	TNNT3	Single nucleotide variant (intron variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 303974	NM_006757.4(TNNT3):c.480+10G>T	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita distal +2 more	GBenign/Likely benign
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 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 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 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 31871	NM_006757.4(TNNT3):c.636T>C (p.Ile212=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
Select item 303976	NM_006757.4(TNNT3):c.668G>C (p.Arg223Pro)	TNNT3 (R223P +8 more)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 31872	NM_006757.4(TNNT3):c.762C>T (p.Gly254=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
Select item 260023	NM_006757.4(TNNT3):c.*36C>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
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 303980	NM_006757.4(TNNT3):c.*62G>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 303981	NM_006757.4(TNNT3):c.*86C>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303982	NM_006757.4(TNNT3):c.*151G>A	TNNT3	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 321706	NM_002470.4(MYH3):c.*39G>A	MYH3	Single nucleotide variant (3 prime UTR variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321707	NM_002470.4(MYH3):c.*31T>G	MYH3	Single nucleotide variant (3 prime UTR variant)	Freeman-Sheldon syndrome +1 more	GConflicting classifications of pathogenicity
Select item 321708	NM_002470.4(MYH3):c.5804T>C (p.Val1935Ala)	MYH3 (V1935A)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
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 321709	NM_002470.4(MYH3):c.5674G>A (p.Ala1892Thr)	MYH3 (A1892T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +3 more	GUncertain significance
Select item 321710	NM_002470.4(MYH3):c.5669C>G (p.Ala1890Gly)	MYH3 (A1890G)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance
Select item 321711	NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly)	MYH3 (D1887G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321712	NM_002470.4(MYH3):c.5607G>T (p.Val1869=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321713	NM_002470.4(MYH3):c.5562+11C>T	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 129665	NM_002470.4(MYH3):c.5457+3G>A	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +3 more	GBenign
Select item 321715	NM_002470.4(MYH3):c.5390G>A (p.Arg1797His)	MYH3 (R1797H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 321716	NM_002470.4(MYH3):c.5331C>T (p.Ser1777=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 321717	NM_002470.4(MYH3):c.5299G>A (p.Ala1767Thr)	MYH3 (A1767T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321718	NM_002470.4(MYH3):c.5286+6G>C	MYH3	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 321719	NM_002470.4(MYH3):c.5274G>A (p.Lys1758=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 129664	NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr)	MYH3 (A1752T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 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 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 321720	NM_002470.4(MYH3):c.5161-13C>T	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +2 more	GConflicting classifications of pathogenicity
Select item 321721	NM_002470.4(MYH3):c.5134G>C (p.Glu1712Gln)	MYH3 (E1712Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 258693	NM_002470.4(MYH3):c.5109G>A (p.Ala1703=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 771968	NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala)	MYH3 (T1692A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 885919	NM_002470.4(MYH3):c.4957-5G>T	MYH3	Single nucleotide variant (intron variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance
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 211555	NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)	MYH3 (A1637V)	Single nucleotide variant (missense variant)	MYH3-related condition +4 more	GConflicting classifications of pathogenicity
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 321723	NM_002470.4(MYH3):c.4778G>C (p.Arg1593Thr)	MYH3 (R1593T)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 more	GUncertain significance
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 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 129663	NM_002470.4(MYH3):c.4731C>T (p.Ile1577=)	MYH3	Single nucleotide variant (synonymous variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 258688	NM_002470.4(MYH3):c.4647+6T>G	MYH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 321724	NM_002470.4(MYH3):c.4647G>C (p.Glu1549Asp)	MYH3 (E1549D)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +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 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 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 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 258684	NM_002470.4(MYH3):c.4356+11C>T	MYH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 321725	NM_002470.4(MYH3):c.4323C>T (p.Ala1441=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 321726	NM_002470.4(MYH3):c.4238C>T (p.Ala1413Val)	MYH3 (A1413V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 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 321727	NM_002470.4(MYH3):c.4172+9C>T	MYH3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 129662	NM_002470.4(MYH3):c.4155A>G (p.Glu1385=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 129661	NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 321728	NM_002470.4(MYH3):c.4109C>T (p.Ala1370Val)	MYH3 (A1370V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +3 more	GConflicting classifications of pathogenicity
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 321729	NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val)	MYH3 (A1361V)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +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 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 129660	NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile)	MYH3 (T1313I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 321730	NM_002470.4(MYH3):c.3883A>G (p.Lys1295Glu)	MYH3 (K1295E)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 more	GUncertain significance
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 321731	NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val)	MYH3 (A1244V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 321732	NM_002470.4(MYH3):c.3729+9C>T	MYH3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129659	NM_002470.4(MYH3):c.3726T>C (p.Ser1242=)	MYH3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 886057	NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr)	MYH3 (S1240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 321733	NM_002470.4(MYH3):c.3612T>C (p.Leu1204=)	MYH3	Single nucleotide variant (synonymous variant)	Distal arthrogryposis type 2B1 +3 more	GBenign/Likely benign
Select item 321734	NM_002470.4(MYH3):c.3609G>A (p.Glu1203=)	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 321735	NM_002470.4(MYH3):c.3594G>A (p.Ala1198=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 211552	NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr)	MYH3 (A1198T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 129658	NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr)	MYH3 (A1192T)	Single nucleotide variant (missense variant)	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A +6 more	GBenign
Select item 321736	NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val)	MYH3 (L1179V)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +2 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 321737	NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu)	MYH3 (A1170E)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 321738	NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met)	MYH3 (T1160M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B3 +4 more	GConflicting classifications of pathogenicity
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 321739	NM_002470.4(MYH3):c.3462G>A (p.Ala1154=)	MYH3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 321740	NM_002470.4(MYH3):c.3439C>A (p.Leu1147Met)	MYH3 (L1147M)	Single nucleotide variant (missense variant)	Freeman-Sheldon syndrome +1 more	GUncertain significance

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