PTPN12[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059642	NM_002835.4(PTPN12):c.100-3A>T	PTPN12	Single nucleotide variant (intron variant)	PTPN12-related disorder	GBenign
Select item 2232848	NM_002835.4(PTPN12):c.141A>G (p.Ile47Met)	PTPN12 (I47M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 9448	NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg)	PTPN12 (K61R)	Single nucleotide variant (5 prime UTR variant +1 more)	Carcinoma of colon	GPathogenic
Select item 2273382	NM_002835.4(PTPN12):c.253G>C (p.Asp85His)	PTPN12 (D85H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3048805	NM_002835.4(PTPN12):c.288C>T (p.Gly96=)	PTPN12	Single nucleotide variant (5 prime UTR variant +2 more)	PTPN12-related disorder	GLikely benign
Select item 2509146	NM_002835.4(PTPN12):c.289G>A (p.Val97Ile)	PTPN12 (V97I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3051438	NM_002835.4(PTPN12):c.330A>G (p.Leu110=)	PTPN12	Single nucleotide variant (5 prime UTR variant +2 more)	PTPN12-related disorder	GLikely benign
Select item 2240604	NM_002835.4(PTPN12):c.401G>A (p.Arg134Gln)	PTPN12 (R134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3030245	NM_002835.4(PTPN12):c.420+7A>G	PTPN12	Single nucleotide variant (intron variant)	PTPN12-related disorder	GLikely benign
Select item 3024795	NM_002835.4(PTPN12):c.553-4G>A	PTPN12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2459424	NM_002835.4(PTPN12):c.560G>A (p.Arg187His)	PTPN12 (R68H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657631	NM_002835.4(PTPN12):c.654A>G (p.Lys218=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054488	NM_002835.4(PTPN12):c.911A>G (p.His304Arg)	PTPN12 (H174R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237518	NM_002835.4(PTPN12):c.926T>C (p.Ile309Thr)	PTPN12 (I179T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396730	NM_002835.4(PTPN12):c.935G>A (p.Gly312Glu)	PTPN12 (G182E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060850	NM_002835.4(PTPN12):c.964G>A (p.Val322Ile)	PTPN12 (V192I +2 more)	Single nucleotide variant (missense variant)	PTPN12-related disorder	GBenign
Select item 3357343	NM_002835.4(PTPN12):c.1071G>A (p.Pro357=)	PTPN12	Single nucleotide variant (synonymous variant)	PTPN12-related disorder	GLikely benign
Select item 2461034	NM_002835.4(PTPN12):c.1084G>A (p.Val362Met)	PTPN12 (V243M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311385	NM_002835.4(PTPN12):c.1133C>G (p.Thr378Ser)	PTPN12 (T248S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330062	NM_002835.4(PTPN12):c.1280A>T (p.Asp427Val)	PTPN12 (D427V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389607	NM_002835.4(PTPN12):c.1369A>C (p.Asn457His)	PTPN12 (N457H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550583	NM_002835.4(PTPN12):c.1454T>C (p.Leu485Pro)	PTPN12 (L355P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317505	NM_002835.4(PTPN12):c.1541C>T (p.Ser514Phe)	PTPN12 (S384F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222101	NM_002835.4(PTPN12):c.1573C>T (p.Arg525Cys)	PTPN12 (R525C +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472581	NM_002835.4(PTPN12):c.1604C>T (p.Thr535Met)	PTPN12 (T535M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528293	NM_002835.4(PTPN12):c.1637C>T (p.Pro546Leu)	PTPN12 (P416L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493103	NM_002835.4(PTPN12):c.1642C>G (p.Pro548Ala)	PTPN12 (P548A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339014	NM_002835.4(PTPN12):c.1667C>T (p.Ser556Leu)	PTPN12 (S426L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471020	NM_002835.4(PTPN12):c.1711A>G (p.Ser571Gly)	PTPN12 (S571G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1235641	NM_002835.4(PTPN12):c.1717A>G (p.Thr573Ala)	PTPN12 (T443A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2471561	NM_002835.4(PTPN12):c.1750C>T (p.His584Tyr)	PTPN12 (H454Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657632	NM_002835.4(PTPN12):c.1809T>C (p.Ser603=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149064	NM_002835.4(PTPN12):c.1820A>T (p.Asp607Val)	PTPN12 (D477V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486629	NM_002835.4(PTPN12):c.1883G>A (p.Ser628Asn)	PTPN12 (S509N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478089	NM_002835.4(PTPN12):c.1957C>T (p.His653Tyr)	PTPN12 (H523Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149065	NM_002835.4(PTPN12):c.1970G>A (p.Gly657Glu)	PTPN12 (G538E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041486	NM_002835.4(PTPN12):c.1971A>G (p.Gly657=)	PTPN12	Single nucleotide variant (synonymous variant)	PTPN12-related disorder	GBenign
Select item 3311386	NM_002835.4(PTPN12):c.1984G>A (p.Gly662Ser)	PTPN12 (G532S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311384	NM_002835.4(PTPN12):c.2005G>A (p.Val669Ile)	PTPN12 (V550I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311387	NM_002835.4(PTPN12):c.2102A>C (p.Glu701Ala)	PTPN12 (E571A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657633	NM_002835.4(PTPN12):c.2112T>C (p.Ser704=)	PTPN12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056245	NM_002835.4(PTPN12):c.2116G>A (p.Glu706Lys)	PTPN12 (E576K +2 more)	Single nucleotide variant (missense variant)	PTPN12-related disorder	GBenign
Select item 3149066	NM_002835.4(PTPN12):c.2251T>C (p.Ser751Pro)	PTPN12 (S621P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149067	NM_002835.4(PTPN12):c.2333A>T (p.Glu778Val)	PTPN12 (E648V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814996	GRCh37/hg19 7q11.23(chr7:77133299-77192123)x1	PTPN12	Copy number loss	not provided	GUncertain significance

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Items: 45