ClinVar for MedGen (Select 9164) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1992393	NM_206933.4(USH2A):c.4945G>C (p.Gly1649Arg)	USH2A, USH2A-AS2 (G1649R)	Single nucleotide variant (non-coding transcript variant +1 more)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 1810397	NM_022124.6(CDH23):c.6571_6593del (p.Thr2191fs)	CDH23 (T2191fs)	Deletion (frameshift variant)	Sensorineural hearing loss disorder	GPathogenic
Select item 1706435	NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)	MRPS7 (K125*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder +1 more	GLikely pathogenic
Select item 1704253	NM_001124758.3(SPNS2):c.487G>A (p.Asp163Asn)	SPNS2 (D163N)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 1704252	NM_001124758.3(SPNS2):c.906G>A (p.Trp302Ter)	SPNS2 (W302*)	Single nucleotide variant (nonsense)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 1683777	NM_000260.4(MYO7A):c.4827G>A (p.Val1609=)	MYO7A	Single nucleotide variant (synonymous variant)	Sensorineural hearing loss disorder +3 more	GUncertain significance
Select item 1683776	NM_000260.4(MYO7A):c.3833C>T (p.Thr1278Ile)	MYO7A (T1267I +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GUncertain significance
Select item 1677241	NM_032805.3(ZSCAN10):c.1250C>A (p.Ser417Ter)	ZSCAN10 (S23* +3 more)	Single nucleotide variant (nonsense)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 1677001	NM_032805.3(ZSCAN10):c.2050del (p.His684fs)	ZSCAN10 (H290fs +3 more)	Deletion (frameshift variant)	ZSCAN10 Deficiency +2 more	GPathogenic
Select item 1676769	NM_004604.5(STX4):c.232+6T>C	STX4	Single nucleotide variant (5 prime UTR variant +1 more)	Hearing loss, autosomal recessive 123 +1 more	GPathogenic/Likely pathogenic
Select item 1472670	NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr)	FOXP4 (A501T +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 1349478	NM_015971.4(MRPS7):c.536G>A (p.Arg179His)	MRPS7 (R179H)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 997012	NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser)	COL11A1 (P616S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 +1 more	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)	Sensorineural hearing loss disorder +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 977276	NM_015713.5(RRM2B):c.786G>T (p.Glu262Asp)	RRM2B (E210D +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 973105	NM_006796.3(AFG3L2):c.1220A>G (p.Asp407Gly)	AFG3L2 (D407G)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +2 more	GPathogenic
Select item 972899	NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser)	SLC12A2 (P988S)	Single nucleotide variant (missense variant +2 more)	Sensorineural hearing loss disorder +1 more	GPathogenic
Select item 871841	NM_020117.11(LARS1):c.1880C>T (p.Pro627Leu)	LARS1 (P573L +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GUncertain significance
Select item 869201	NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser)	GGPS1 (N36S +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869200	NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	GGPS1 (R207H +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 869199	NM_003201.3(TFAM):c.694C>T (p.Arg232Cys)	TFAM (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869198	NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro)	TOP1MT (R274P +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869197	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	PEX6 (L124P)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GPathogenic
Select item 867234	NM_001519.4(BRF1):c.654G>C (p.Trp218Cys)	BRF1 (W103C +3 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, moderate +6 more	GConflicting classifications of pathogenicity
Select item 694746	NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)	KARS1, LOC126862402 (A526V +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +4 more	GConflicting classifications of pathogenicity
Select item 694651	NM_031475.3(ESPN):c.910G>T (p.Asp304Tyr)	ESPN (D304Y)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 691620	NM_003672.4(CDC14A):c.1351_1352del (p.Ala451fs)	CDC14A (A158fs +2 more)	Deletion (frameshift variant)	Sensorineural hearing loss disorder	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 635776	GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3	MGAT4B, MRNIP +9 more	Copy number gain	Sensorineural hearing loss disorder	GUncertain significance
Select item 635273	NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)	HARS2, LOC119407423 (C24*)	Single nucleotide variant (nonsense +2 more)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 635272	NM_012208.4(HARS2):c.413G>A (p.Arg138His)	HARS2 (R138H +3 more)	Single nucleotide variant (missense variant +1 more)	HARS2-related disorder	GUncertain significance
Select item 635271	NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer)	HARS2	Indel (nonsense +1 more)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 635270	NM_012208.4(HARS2):c.1439G>A (p.Arg480His)	HARS2 (R480H +4 more)	Single nucleotide variant (missense variant)	Perrault syndrome +1 more	GPathogenic/Likely pathogenic
Select item 625850	NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)	GABRA1 (G78R)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13 +2 more	GUncertain significance
Select item 620637	NM_133261.3(GIPC3):c.400G>A (p.Ala134Thr)	GIPC3 (A134T)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 598973	NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)	WFS1 (Q667*)	Single nucleotide variant (nonsense)	not provided +20 more	GPathogenic/Likely pathogenic
Select item 598972	NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr)	KIF1A (H917Y +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +22 more	GUncertain significance
Select item 598971	NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)	CHN1 (A223T +3 more)	Single nucleotide variant (missense variant +1 more)	Cleft palate +19 more	GLikely pathogenic
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	Cleft palate +20 more	GPathogenic
Select item 590798	NM_020975.6(RET):c.1280_1281del (p.Val427fs)	RET (V173fs +1 more)	Microsatellite (frameshift variant)	Hirschsprung disease, susceptibility to, 1 +1 more	GPathogenic
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 586962	NM_004004.6(GJB2):c.196G>T (p.Asp66Tyr)	GJB2 (D66Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 560389	NM_005548.3(KARS1):c.1354del (p.Leu452fs)	LOC126862402, KARS1 (L452fs +2 more)	Deletion (frameshift variant)	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more	GPathogenic
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	Peroxisome biogenesis disorder 4A (Zellweger) +4 more	GConflicting classifications of pathogenicity
Select item 523541	NM_031475.3(ESPN):c.2150A>G (p.Asn717Ser)	ESPN (N717S +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 523510	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	POGZ (P924fs +4 more)	Deletion (frameshift variant)	Sensorineural hearing loss disorder +16 more	GPathogenic
Select item 523410	NM_001127453.2(GSDME):c.456T>G (p.Asn152Lys)	GSDME (N152K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 5 +1 more	GUncertain significance
Select item 517667	NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr)	LMX1A (I369T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 517663	NM_005422.4(TECTA):c.3107G>A (p.Cys1036Tyr)	TBCEL-TECTA, TECTA (C1036Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444219	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23 (E956K)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GPathogenic FDA Recognized database
Select item 374129	NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	COL11A2 (G1477V +2 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GLikely pathogenic
Select item 374094	NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr)	AIFM1, RAB33A (M340T +2 more)	Single nucleotide variant (missense variant +3 more)	Foot dorsiflexor weakness +6 more	GPathogenic/Likely pathogenic
Select item 374064	NM_001145809.2(MYH14):c.1945+6G>A	MYH14	Single nucleotide variant (intron variant)	EMG abnormality +7 more	GUncertain significance
Select item 372270	NM_001330691.3(CEP78):c.534del (p.Lys179fs)	CEP78 (K179fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 372269	NM_001330691.3(CEP78):c.893-1G>A	CEP78	Single nucleotide variant (splice acceptor variant)	Sensorineural hearing loss disorder +2 more	GPathogenic
Select item 370064	NC_012920.1(MT-CYB):m.15127C>T	MT-CYB	Single nucleotide variant	Dyssynergia +4 more	GUncertain significance
Select item 268006	46;XY;t(6;11)(p12.3;p14.2)dn		Translocation	Delayed speech and language development +12 more	GPathogenic
Select item 267932	46;XX;t(1;13)(q11.2;p11.2)dn		Translocation	Sensorineural hearing loss disorder +8 more	GUncertain significance
Select item 267872	46;XY;t(5;7)(q14.3;q21.3)dn		Translocation	Sensorineural hearing loss disorder +3 more	GLikely pathogenic
Select item 267809	46;XY;t(8;9)(q13;p22)dn		Translocation	Telangiectasia of the skin +4 more	GPathogenic
Select item 188488	NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	GJB2 (E119K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3A +4 more	GConflicting classifications of pathogenicity
Select item 95305	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	SOX3	Duplication (inframe_insertion)	not provided +27 more	GConflicting classifications of pathogenicity
Select item 45455	NM_006005.3(WFS1):c.2433G>A (p.Lys811=)	WFS1	Single nucleotide variant (synonymous variant)	WFS1-Related Spectrum Disorders +5 more	GBenign
Select item 41236	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL (N98S)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 17020	NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	GJB2 (D50N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +3 more	GPathogenic
Select item 9589	NC_012920.1(MT-TL1):m.3243A>G	MT-TL1	Single nucleotide variant	not specified +12 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)	Hearing impairment +2 more	GLikely pathogenic

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Items: 84