"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "TPR"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1176528	NM_005807.6(PRG4):c.3848del (p.Gly1283fs)	PRG4, TPR (G1149fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 781667	NM_005807.6(PRG4):c.3879T>C (p.Tyr1293=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1013544	NM_005807.6(PRG4):c.4013_4014del (p.Lys1338fs)	PRG4, TPR (K1204fs +4 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2639665	NM_005807.6(PRG4):c.4089C>T (p.Asp1363=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732422	NM_005807.6(PRG4):c.4107C>A (p.Ala1369=)	PRG4, TPR	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2639666	NM_003292.3(TPR):c.5119A>G (p.Thr1707Ala)	TPR (T1707A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639667	NM_003292.3(TPR):c.2310A>G (p.Ala770=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639668	NM_003292.3(TPR):c.2175T>C (p.Tyr725=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770683	NM_003292.3(TPR):c.1399C>A (p.Arg467=)	TPR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2639669	NM_003292.3(TPR):c.811A>T (p.Met271Leu)	TPR (M271L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2578591	NM_003292.3(TPR):c.599A>C (p.Glu200Ala)	TPR (E200A)	Single nucleotide variant (missense variant)	not provided	GLikely benign