ClinVar for MedGen (Select 412541) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066253	NM_001384474.1(LOXHD1):c.6732del (p.Gly2245fs)	LOXHD1 (G2183fs +2 more)	Deletion (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 3024461	NM_001384474.1(LOXHD1):c.3999C>A (p.Cys1333Ter)	LOXHD1 (C126* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 2881599	NM_001384474.1(LOXHD1):c.488del (p.Phe163fs)	LOXHD1 (F163fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GPathogenic/Likely pathogenic
Select item 2689377	NM_001384474.1(LOXHD1):c.2219C>T (p.Thr740Ile)	LOXHD1 (T740I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 2689376	NM_001384474.1(LOXHD1):c.5003G>A (p.Arg1668Gln)	LOXHD1 (R1668Q +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 2689375	NM_001384474.1(LOXHD1):c.182C>T (p.Ala61Val)	LOXHD1 (A61V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 2445665	NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp)	LOXHD1 (R1243W +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 2445664	NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)	LOXHD1 (A440D +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GConflicting classifications of pathogenicity
Select item 2445663	NM_001384474.1(LOXHD1):c.6342-1G>A	LOXHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 2433498	NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu)	LOXHD1 (D1933E +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 2030171	NM_001384474.1(LOXHD1):c.2598+1G>A	LOXHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GLikely pathogenic
Select item 1726821	NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter)	LOXHD1 (Y321*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726707	NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs)	LOXHD1 (A129fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726536	NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter)	LOXHD1 (Q645*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726505	NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs)	LOXHD1 (T1936fs +4 more)	Indel (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726030	NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter)	LOXHD1 (Q1298* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1726026	NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter)	LOXHD1 (C112* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725975	NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter)	LOXHD1 (Q1743* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725801	NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter)	LOXHD1 (K1580* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725409	NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter)	LOXHD1 (W155*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725355	NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter)	LOXHD1 (G69*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725311	NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs)	LOXHD1 (T1758fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725298	NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter)	LOXHD1 (K495*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1725280	NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter)	LOXHD1 (K1182* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724895	NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter)	LOXHD1 (E799*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724773	NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter)	LOXHD1 (K453*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724767	NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter)	LOXHD1 (L406*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724631	NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter)	LOXHD1 (E600*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724401	NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs)	LOXHD1 (L1974fs +4 more)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724198	NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter)	LOXHD1 (K1781* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724189	NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs)	LOXHD1 (Q1935fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724082	NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs)	LOXHD1 (D1733fs +4 more)	Insertion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1724064	NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter)	LOXHD1 (W397*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1723969	NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter)	LOXHD1 (K1528* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1696019	NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys)	LOXHD1 (R773C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1696018	NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys)	LOXHD1 (N241K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GUncertain significance
Select item 1677236	NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile)	LOXHD1 (F120I +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1526186	NM_001384474.1(LOXHD1):c.4877-1G>A	LOXHD1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1526069	NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter)	LOXHD1 (E955*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GPathogenic
Select item 1497507	NM_001384474.1(LOXHD1):c.6182+1G>T	LOXHD1	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GLikely pathogenic
Select item 1457353	NM_001384474.1(LOXHD1):c.71del (p.Leu24fs)	LOXHD1 (L24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1453134	NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs)	LOXHD1 (S1136fs +1 more)	Duplication (frameshift variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GPathogenic/Likely pathogenic
Select item 1437596	NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser)	LOXHD1 (N521S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406087	NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg)	LOXHD1 (G2027R +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333579	NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs)	LOXHD1 (F110fs +2 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1333469	NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs)	LOXHD1 (E948fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1323244	NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter)	LOXHD1 (Q410*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GPathogenic
Select item 1301810	NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met)	LOXHD1 (V1065M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301809	NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn)	LOXHD1 (D1238N +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1210426	NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs)	LOXHD1 (L429fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GLikely pathogenic
Select item 1210163	NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro)	LOXHD1 (T2001P +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1207187	NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn)	LOXHD1 (D1765N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1199381	NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His)	LOXHD1 (R1562H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1199288	NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp)	LOXHD1 (H556D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1185685	NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs)	LOXHD1 (A1070fs +4 more)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 77	GPathogenic
Select item 1185140	NM_001384474.1(LOXHD1):c.759+5G>A	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1184666	NM_001384474.1(LOXHD1):c.-102G>A	LOXHD1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GBenign
Select item 1184661	NM_001384474.1(LOXHD1):c.1135-70C>A	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184660	NM_001384474.1(LOXHD1):c.1654+69C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184659	NM_001384474.1(LOXHD1):c.2048-102A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184658	NM_001384474.1(LOXHD1):c.4096-59A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184657	NM_001384474.1(LOXHD1):c.4530+25C>T	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184656	NM_001384474.1(LOXHD1):c.4531-120G>A	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GBenign
Select item 1167564	NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1161510	NM_001384474.1(LOXHD1):c.1432-9T>C	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1137396	NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=)	LOXHD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1120127	NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala)	LOXHD1 (V2177A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1081550	NM_001384474.1(LOXHD1):c.6050-7A>G	LOXHD1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1076810	NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter)	LOXHD1 (Q253*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1076394	NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter)	LOXHD1 (Y1053* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1075395	NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter)	LOXHD1 (Y101* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1067272	NM_001384474.1(LOXHD1):c.4095+1G>A	LOXHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1067108	NM_001384474.1(LOXHD1):c.4740+1G>A	LOXHD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1066975	NM_001384474.1(LOXHD1):c.760-2del	LOXHD1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1064937	NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)	LOXHD1 (N16fs +4 more)	Deletion (frameshift variant)	Hearing impairment +2 more	GPathogenic/Likely pathogenic
Select item 1064653	NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser)	LOXHD1 (R1398S +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1064652	NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter)	LOXHD1 (R1646* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1049715	NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp)	LOXHD1 (N1971D +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GUncertain significance
Select item 1032448	NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr)	LOXHD1 (S1824T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 1029159	NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu)	LOXHD1 (P1941L +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 995177	NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr)	LOXHD1 (S1587T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995176	NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys)	LOXHD1 (R853C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992168	NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr)	LOXHD1 (D1665Y +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 992167	NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu)	LOXHD1 (I147L +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 992166	NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser)	LOXHD1 (F1919S +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 992165	NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter)	LOXHD1 (C1010* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992164	NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala)	LOXHD1 (T1050A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992163	NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp)	LOXHD1 (R1077W +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 990074	NM_001384474.1(LOXHD1):c.246-5T>C	LOXHD1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990073	NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu)	LOXHD1 (D457E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990072	NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990071	NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 990070	NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile)	LOXHD1 (M970I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990069	NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp)	LOXHD1 (N1095D)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 77	GUncertain significance
Select item 990068	NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=)	LOXHD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 982258	NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter)	LOXHD1 (W1416* +2 more)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 77	GPathogenic
Select item 982257	NM_001384474.1(LOXHD1):c.3351-1G>A	LOXHD1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 982256	NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr)	LOXHD1 (M1605T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 982255	NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys)	LOXHD1 (R1742C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 982254	NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu)	LOXHD1 (G2013E +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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