"TPM2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2634361	NM_003289.4(TPM2):c.836dup (p.Asn279fs)	TPM2 (N279fs)	Duplication (frameshift variant +1 more)	TPM2-related disorder	GLikely pathogenic
Select item 366768	NM_003289.4(TPM2):c.773-5_773-3dup	TPM2	Duplication (intron variant)	Arthrogryposis multiplex congenita +5 more	GConflicting classifications of pathogenicity
Select item 3030488	NM_003289.4(TPM2):c.773-9_773-8insCG	TPM2	Insertion (intron variant)	TPM2-related disorder	GLikely benign
Select item 3029637	NM_003289.4(TPM2):c.563+175C>T	TPM2	Single nucleotide variant (synonymous variant +1 more)	TPM2-related disorder	GLikely benign
Select item 12465	NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	TPM2 (E139del)	Microsatellite (inframe_deletion)	TPM2-related disorder +3 more	GPathogenic
Select item 12463	NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	TPM2 (R133W)	Single nucleotide variant (missense variant)	TPM2-related disorder +2 more	GPathogenic
Select item 458723	NM_003289.4(TPM2):c.374+9G>C	TPM2	Single nucleotide variant (intron variant)	TPM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 528395	NM_003289.4(TPM2):c.357G>A (p.Ala119=)	TPM2	Single nucleotide variant (synonymous variant)	TPM2-related disorder +1 more	GLikely benign
Select item 196358	NM_003289.4(TPM2):c.241-7C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +2 more	GConflicting classifications of pathogenicity
Select item 1632708	NM_003289.4(TPM2):c.114+10G>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +1 more	GLikely benign
Select item 2634029	NM_003289.4(TPM2):c.62_63insGG (p.Glu23fs)	TPM2 (E23fs)	Insertion (frameshift variant)	TPM2-related disorder	GUncertain significance
Select item 1595553	NM_003289.4(TPM2):c.18G>A (p.Lys6=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A +1 more	GLikely benign
Select item 366771	NM_003289.4(TPM2):c.-10C>A	TPM2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity