p.I351T[varname] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323349	NM_001282547.2(STK40):c.1052T>C (p.Ile351Thr)	STK40 (I351T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112676	NM_001115016.3(KANSL3):c.1052T>C (p.Ile351Thr)	KANSL3 (I123T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316564	NM_006922.4(SCN3A):c.1052T>C (p.Ile351Thr)	SCN3A (I351T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240848	NM_000578.4(SLC11A1):c.1052T>C (p.Ile351Thr)	SLC11A1 (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2100212	NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)	SP110, SP140 (I301T +2 more)	Single nucleotide variant (missense variant)	Hepatic veno-occlusive disease-immunodeficiency syndrome	GUncertain significance
Select item 3264258	NM_001141947.3(CCDC66):c.1949T>C (p.Ile650Thr)	CCDC66 (I286T +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1210634	NM_001349338.3(FOXP1):c.1355T>C (p.Ile452Thr)	FOXP1 (I351T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3166941	NM_005460.4(SNCAIP):c.1232T>C (p.Ile411Thr)	SNCAIP (I351T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1317108	NM_002109.6(HARS1):c.1394T>C (p.Ile465Thr)	HARS1 (I351T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2263219	NM_001637.4(AOAH):c.1052T>C (p.Ile351Thr)	AOAH (I319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156599	NM_198467.3(RSBN1L):c.1052T>C (p.Ile351Thr)	RSBN1L (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 847042	NM_003919.3(SGCE):c.1139T>C (p.Ile380Thr)	CASD1, SGCE (I289T +9 more)	Single nucleotide variant (missense variant)	Myoclonic dystonia 11	GUncertain significance
Select item 3039437	NM_000742.4(CHRNA2):c.1529T>C (p.Ile510Thr)	CHRNA2 (I312T +3 more)	Single nucleotide variant (missense variant)	CHRNA2-related disorder	GUncertain significance
Select item 2460763	NM_006281.4(STK3):c.1052T>C (p.Ile351Thr)	STK3 (I351T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2985688	NM_014314.4(RIGI):c.1496T>C (p.Ile499Thr)	RIGI (I497T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805232	NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr)	POMT1 (I325T +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 577996	NM_032776.3(JMJD1C):c.1166T>C (p.Ile389Thr)	JMJD1C (I389T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 553397	NM_000360.4(TH):c.1052T>C (p.Ile351Thr)	TH (I382T +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive DOPA responsive dystonia	GConflicting classifications of pathogenicity
Select item 2108543	NM_213599.3(ANO5):c.1052T>C (p.Ile351Thr)	ANO5 (I351T +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2L +1 more	GUncertain significance
Select item 2643584	NM_023928.5(AACS):c.1365T>C (p.Tyr455=)	AACS (I351T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3080287	NM_015604.4(DCAF4):c.1052T>C (p.Ile351Thr)	DCAF4 (I330T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515318	NM_031898.3(TEKT3):c.1052T>C (p.Ile351Thr)	TEKT3 (I351T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452976	NM_001083962.2(TCF4):c.1265T>C (p.Ile422Thr)	TCF4 (I422T +13 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1955601	NM_144991.3(TSPEAR):c.1256T>C (p.Ile419Thr)	TSPEAR (I351T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 24