ClinVar for MedGen (Select 1674500) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234954	NM_006757.4(TNNT3):c.37T>C (p.Tyr13His)	TNNT3 (Y13H)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 3061940	NM_006757.4(TNNT3):c.299G>A (p.Arg100His)	TNNT3 (R100H +8 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 1299352	NM_006757.4(TNNT3):c.176T>C (p.Ile59Thr)	TNNT3 (I40T +7 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 1185429	NM_006757.4(TNNT3):c.681+63T>C	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1185428	NM_006757.4(TNNT3):c.107-115T>C	TNNT3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185427	NM_006757.4(TNNT3):c.107-134T>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 1172549	NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser)	TNNT3 (R44S +7 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2	GLikely pathogenic
Select item 1028551	NM_006757.4(TNNT3):c.723-2A>G	TNNT3	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, distal, type 2B2	GPathogenic
Select item 1028550	NM_006757.4(TNNT3):c.464G>A (p.Ser155Asn)	TNNT3 (S136N +8 more)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B2	GUncertain significance
Select item 429865	NM_006757.4(TNNT3):c.524AGA[2] (p.Lys177del)	TNNT3 (K177del +8 more)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 260032	NM_006757.4(TNNT3):c.83-48A>G	TNNT3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 31874	NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	TNNT3 (R63C +7 more)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 2B2 +2 more	GPathogenic/Likely pathogenic
Select item 31869	NM_006757.4(TNNT3):c.32-149A>T	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 31868	NM_006757.4(TNNT3):c.18-76A>G	TNNT3	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 2B2 +1 more	GBenign
Select item 8913	NM_006757.4(TNNT3):c.188G>A (p.Arg63His)	TNNT3 (R63H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic