TOR2A[gene] and "single gene"[properties] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3181318	NM_001085347.3(TOR2A):c.958T>C (p.Phe320Leu)	TOR2A (F320L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328117	NM_001085347.3(TOR2A):c.944C>T (p.Ser315Phe)	TOR2A (S153F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207923	NM_001085347.3(TOR2A):c.937G>A (p.Val313Met)	TOR2A (V151M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223199	NM_001085347.3(TOR2A):c.925G>A (p.Gly309Ser)	TOR2A (G309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 723314	NM_001085347.3(TOR2A):c.907C>A (p.Gln303Lys)	TOR2A (Q141K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3328119	NM_001085347.3(TOR2A):c.825G>A (p.Glu275=)	TOR2A (A233T +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3328120	NM_001085347.3(TOR2A):c.813C>T (p.Cys271=)	TOR2A (R229C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2517156	NM_001085347.3(TOR2A):c.805C>T (p.Arg269Trp)	TOR2A (R269W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181317	NM_001085347.3(TOR2A):c.801C>T (p.His267=)	TOR2A (R63C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2366020	NM_001085347.3(TOR2A):c.785C>G (p.Pro262Arg)	TOR2A (P262R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2568799	NM_001085347.3(TOR2A):c.766G>A (p.Ala256Thr)	TOR2A (A256T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592214	NM_001085347.3(TOR2A):c.765C>T (p.Asp255=)	TOR2A (R213C +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2276457	NM_001085347.3(TOR2A):c.737C>T (p.Ser246Leu)	TOR2A (S84L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239204	NM_001085347.3(TOR2A):c.734A>G (p.Asn245Ser)	TOR2A (N245S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2456206	NM_001085347.3(TOR2A):c.697C>T (p.Arg233Cys)	TOR2A (R233C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181315	NM_001085347.3(TOR2A):c.679C>G (p.Leu227Val)	TOR2A (L227V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220445	NM_001085347.3(TOR2A):c.656G>C (p.Arg219Pro)	TOR2A (R219P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2350483	NM_001085347.3(TOR2A):c.646C>T (p.Arg216Trp)	TOR2A (R54W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3328121	NM_001085347.3(TOR2A):c.623T>C (p.Val208Ala)	TOR2A (V208A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3181314	NM_001085347.3(TOR2A):c.608A>C (p.Lys203Thr)	TOR2A (K41T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2659512	NM_001085347.3(TOR2A):c.593+160G>A	TOR2A	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2323957	NM_001085347.3(TOR2A):c.553T>C (p.Tyr185His)	TOR2A (Y185H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409902	NM_001085347.3(TOR2A):c.463C>T (p.Arg155Cys)	TOR2A (P66L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520688	NM_001085347.3(TOR2A):c.423T>A (p.Asp141Glu)	TOR2A (D141E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181313	NM_001085347.3(TOR2A):c.376G>A (p.Val126Ile)	TOR2A (V126I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181312	NM_001085347.3(TOR2A):c.362A>G (p.His121Arg)	TOR2A (H121R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181311	NM_001085347.3(TOR2A):c.356G>A (p.Arg119His)	TOR2A (R119H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2471104	NM_001085347.3(TOR2A):c.338G>A (p.Gly113Asp)	TOR2A (G113D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226188	NM_001085347.3(TOR2A):c.247C>T (p.Pro83Ser)	TOR2A (P83S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338327	NM_001085347.3(TOR2A):c.194T>C (p.Leu65Pro)	TOR2A (L65P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181310	NM_001085347.3(TOR2A):c.193C>A (p.Leu65Met)	TOR2A (L65M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181309	NM_001085347.3(TOR2A):c.173A>G (p.Gln58Arg)	TOR2A (Q58R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 32