"Arthrogryposis multiplex congenita distal"[Disease/phenotype] AND "Il - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 287318	NM_003282.4(TNNI2):c.54G>C (p.Leu18=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +3 more	GConflicting classifications of pathogenicity
Select item 303935	NM_003282.4(TNNI2):c.61G>A (p.Val21Met)	TNNI2 (V21M)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita distal +3 more	GConflicting classifications of pathogenicity
Select item 303936	NM_003282.4(TNNI2):c.149C>T (p.Pro50Leu)	TNNI2 (P50L)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303937	NM_003282.4(TNNI2):c.159T>C (p.His53=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303938	NM_003282.4(TNNI2):c.216C>T (p.Ile72=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303939	NM_003282.4(TNNI2):c.276+15C>T	TNNI2	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303940	NM_003282.4(TNNI2):c.387G>A (p.Ser129=)	TNNI2	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303941	NM_003282.4(TNNI2):c.*27C>T	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303942	NM_003282.4(TNNI2):c.*28G>A	TNNI2	Single nucleotide variant (3 prime UTR variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 303964	NM_006757.3(TNNT3):c.-177dup	TNNT3	Duplication	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303965	NM_006757.3(TNNT3):c.-182C>G	TNNT3	Single nucleotide variant	Arthrogryposis multiplex congenita distal +1 more	GUncertain significance
Select item 303966	NM_006757.3(TNNT3):c.-83G>A	TNNT3	Single nucleotide variant	Arthrogryposis multiplex congenita distal +1 more	GLikely 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 303968	NM_006757.4(TNNT3):c.68-14C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303969	NM_006757.4(TNNT3):c.101C>T (p.Ala34Val)	TNNT3 (A34V +2 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita distal +2 more	GUncertain significance
Select item 303970	NM_006757.4(TNNT3):c.107-6G>A	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita distal +3 more	GConflicting classifications of pathogenicity
Select item 31870	NM_006757.4(TNNT3):c.414G>A (p.Glu138=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GBenign/Likely benign
Select item 303971	NM_006757.4(TNNT3):c.417C>T (p.Asp139=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303972	NM_006757.4(TNNT3):c.429G>A (p.Lys143=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303973	NM_006757.4(TNNT3):c.480+9C>T	TNNT3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 303975	NM_006757.4(TNNT3):c.515G>A (p.Arg172Gln)	TNNT3 (R172Q +8 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita distal +3 more	GUncertain significance
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 303977	NM_006757.4(TNNT3):c.690G>A (p.Thr230=)	TNNT3	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis multiplex congenita distal +2 more	GConflicting classifications of pathogenicity
Select item 303978	NM_006757.4(TNNT3):c.722+15C>T	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita +2 more	GConflicting classifications of pathogenicity
Select item 260030	NM_006757.4(TNNT3):c.723-15G>C	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita distal +3 more	GBenign/Likely benign
Select item 303979	NM_006757.4(TNNT3):c.759C>T (p.Val253=)	TNNT3	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita +2 more	GConflicting classifications of pathogenicity
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 303980	NM_006757.4(TNNT3):c.*62G>T	TNNT3	Single nucleotide variant (3 prime UTR variant)	Distal arthrogryposis type 2B1 +1 more	GUncertain significance

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Items: 29