C0018784[trait identifier] AND "Genetics Research Center, University o - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 587598	NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)	CLCNKA (Q19*)	Single nucleotide variant (nonsense)	Bartter disease type 4B +2 more	GConflicting classifications of pathogenicity
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 984396	NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	TMIE (P43fs)	Duplication (5 prime UTR variant +1 more)	Sensorineural hearing loss disorder +1 more	GPathogenic/Likely pathogenic
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
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 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 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 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 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 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)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
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 655296	NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)	MYO3A (R457fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 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 984394	NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=)	PTPRQ	Single nucleotide variant (synonymous 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 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 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 984395	NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)	CLDN14, CLDN14-AS1 (S14fs)	Insertion (frameshift variant)	Sensorineural hearing loss disorder	GPathogenic
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

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Items: 21