ClinVar (all) for Orgtrack (Select 505450) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663803	NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)	ZFYVE21 (V203fs +1 more)	Duplication (frameshift variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663802	NM_005447.4(RASSF9):c.893_894del (p.Ile298fs)	RASSF9 (I298fs)	Microsatellite (frameshift variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663801	NM_001288772.2(PIK3C2G):c.3480+1G>T	PIK3C2G	Single nucleotide variant (splice donor variant)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663800	NM_001001548.3(CD36):c.1187C>G (p.Ser396Ter)	CD36 (S241* +5 more)	Single nucleotide variant (nonsense +1 more)	Premature coronary artery atherosclerosis	GUncertain significance
Select item 2663799	NM_022437.3(ABCG8):c.562G>C (p.Val188Leu)	ABCG8 (V188L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1518043	NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)	CYP27A1 (A111G)	Single nucleotide variant (missense variant)	Cholestanol storage disease +1 more	GUncertain significance
Select item 984408	NM_020353.3(PLSCR4):c.301C>T (p.Pro101Ser)	PLSCR4 (P101S +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984407	NM_017640.6(CARMIL1):c.3245G>A (p.Arg1082Gln)	CARMIL1 (R1082Q)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984406	NM_001163278.2(TENM1):c.3273G>T (p.Gln1091His)	TENM1 (Q1090H +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984405	NM_002979.5(SCP2):c.686A>G (p.Asp229Gly)	SCP2 (D148G +3 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 984404	NM_007109.3(TCF19):c.482G>A (p.Arg161Gln)	TCF19 (R161Q)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984403	NM_020718.4(USP31):c.2533A>G (p.Ser845Gly)	USP31 (S845G +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984402	NM_001297732.2(COX18):c.908G>A (p.Arg303His)	COX18 (R151H +3 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984401	NM_004618.5(TOP3A):c.1651G>A (p.Val551Met)	TOP3A (V456M +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984400	NM_000787.4(DBH):c.1486C>T (p.Pro496Ser)	DBH, DBH-AS1 (P496S)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984399	NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter)	MYO7A (Y1765* +2 more)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder	GPathogenic
Select item 984398	NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)	ATP6V0A4 (K237del)	Microsatellite (inframe_deletion)	Sensorineural hearing loss disorder +1 more	GConflicting classifications of pathogenicity
Select item 984397	NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)	SLC52A2 (C161G +1 more)	Single nucleotide variant (missense variant +1 more)	Brown-Vialetto-van Laere syndrome 2 +1 more	GLikely pathogenic
Select item 984396	NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	TMIE (P43fs)	Duplication (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 6 +1 more	GPathogenic/Likely pathogenic
Select item 984395	NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)	CLDN14, CLDN14-AS1 (S14fs)	Insertion (frameshift variant)	Sensorineural hearing loss disorder	GPathogenic
Select item 984394	NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=)	PTPRQ	Single nucleotide variant (synonymous variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 984393	NM_001851.6(COL9A1):c.2644del (p.Val882fs)	COL9A1 (V590fs +3 more)	Deletion (frameshift variant +1 more)	Sensorineural hearing loss disorder	GPathogenic
Select item 984392	NM_207034.3(EDN3):c.293C>T (p.Thr98Met)	EDN3 (T98M)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 984391	NM_024678.6(NARS2):c.1339A>G (p.Met447Val)	NARS2 (M220V +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GConflicting classifications of pathogenicity
Select item 921410	NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met)	RYR2 (T1730M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 691635	NM_001031710.3(KLHL7):c.249del (p.Phe83fs)	KLHL7 (F35fs +1 more)	Deletion (frameshift variant +1 more)	Bohring-Opitz syndrome	GPathogenic
Select item 655296	NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	MYO3A (R457fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 587598	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	CLCNKA (Q19*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +2 more	GConflicting classifications of pathogenicity
Select item 191360	NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)	PCARE (K238*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 191359	NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)	PANK2 (F140S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa	GPathogenic
Select item 191358	NM_201253.3(CRB1):c.1459dup (p.Ser487fs)	CRB1 (S487fs +2 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa	GPathogenic
Select item 191357	NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)	CRB1 (C904Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 191356	NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)	IFT140 (G1276E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 191355	NM_006269.2(RP1):c.679T>G (p.Phe227Val)	RP1 (F227V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 191354	NM_000283.4(PDE6B):c.1060-1G>T	PDE6B	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GPathogenic
Select item 191353	NM_000350.3(ABCA4):c.2927del (p.Leu976fs)	ABCA4 (L976fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 3391	NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	TMIE (R84W +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +2 more	GLikely pathogenic

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Items: 37