ClinVar for MedGen (Select 412541) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24456651.	NM_001384474.1(LOXHD1):c.3727C>T (p.Arg1243Trp) GRCh37: Chr18:44122711 GRCh38: Chr18:46542748	LOXHD1	R1243W, R132W, R36W	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456642.	NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp) GRCh37: Chr18:44102209 GRCh38: Chr18:46522246	LOXHD1	A440D, A1647D, A536D	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24456633.	NM_001384474.1(LOXHD1):c.6342-1G>A GRCh37: Chr18:44057916 GRCh38: Chr18:46477953	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 28, 2023)	criteria provided, single submitter
Select item 24334984.	NM_001384474.1(LOXHD1):c.5985C>G (p.Asp1995Glu) GRCh37: Chr18:44068999 GRCh38: Chr18:46489036	LOXHD1	D1933E, D1995E, D234E, D788E, D884E	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Feb 7, 2020)	criteria provided, single submitter
Select item 20301715.	NM_001384474.1(LOXHD1):c.2598+1G>A GRCh37: Chr18:44143027 GRCh38: Chr18:46563064	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17268216.	NM_001384474.1(LOXHD1):c.963T>A (p.Tyr321Ter) GRCh37: Chr18:44181351 GRCh38: Chr18:46601388	LOXHD1	Y321*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267077.	NM_001384474.1(LOXHD1):c.5668_5669del (p.Ala1890fs) GRCh37: Chr18:44087524-44087525 GRCh38: Chr18:46507561-46507562	LOXHD1	A129fs, A1828fs, A1890fs, A683fs, A779fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 17265368.	NM_001384474.1(LOXHD1):c.1933C>T (p.Gln645Ter) GRCh37: Chr18:44157707 GRCh38: Chr18:46577744	LOXHD1	Q645*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 17265059.	NM_001384474.1(LOXHD1):c.5992_5998delinsCA (p.Thr1998fs) GRCh37: Chr18:44068986-44068992 GRCh38: Chr18:46489023-46489029	LOXHD1	T1936fs, T1998fs, T237fs, T791fs, T887fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172603010.	NM_001384474.1(LOXHD1):c.3892C>T (p.Gln1298Ter) GRCh37: Chr18:44121760 GRCh38: Chr18:46541797	LOXHD1	Q1298, Q187, Q91*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 172602611.	NM_001384474.1(LOXHD1):c.5619T>A (p.Cys1873Ter) GRCh37: Chr18:44087574 GRCh38: Chr18:46507611	LOXHD1	C112, C1811, C1873, C666, C762*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (May 5, 2022)	criteria provided, single submitter
Select item 172597512.	NM_001384474.1(LOXHD1):c.5413C>T (p.Gln1805Ter) GRCh37: Chr18:44089765 GRCh38: Chr18:46509802	LOXHD1	Q1743, Q1805, Q44, Q598, Q694*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172580113.	NM_001384474.1(LOXHD1):c.4738A>T (p.Lys1580Ter) GRCh37: Chr18:44104673 GRCh38: Chr18:46524710	LOXHD1	K1580, K373, K469*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 172540914.	NM_001384474.1(LOXHD1):c.464G>A (p.Trp155Ter) GRCh37: Chr18:44219626 GRCh38: Chr18:46639663	LOXHD1	W155*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172535515.	NM_001384474.1(LOXHD1):c.205G>T (p.Gly69Ter) GRCh37: Chr18:44229158 GRCh38: Chr18:46649195	LOXHD1	G69*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 172531116.	NM_001384474.1(LOXHD1):c.5458_5459del (p.Thr1820fs) GRCh37: Chr18:44089719-44089720 GRCh38: Chr18:46509756-46509757	LOXHD1	T1758fs, T1820fs, T59fs, T613fs, T709fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172529817.	NM_001384474.1(LOXHD1):c.1483A>T (p.Lys495Ter) GRCh37: Chr18:44172496 GRCh38: Chr18:46592533	LOXHD1	K495*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172528018.	NM_001384474.1(LOXHD1):c.3544A>T (p.Lys1182Ter) GRCh37: Chr18:44125355 GRCh38: Chr18:46545392	LOXHD1	K1182, K71	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Dec 2, 2021)	criteria provided, single submitter
Select item 172489519.	NM_001384474.1(LOXHD1):c.2395G>T (p.Glu799Ter) GRCh37: Chr18:44146262 GRCh38: Chr18:46566299	LOXHD1	E799*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 2, 2022)	criteria provided, single submitter
Select item 172477320.	NM_001384474.1(LOXHD1):c.1357A>T (p.Lys453Ter) GRCh37: Chr18:44173637 GRCh38: Chr18:46593674	LOXHD1	K453*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172476721.	NM_001384474.1(LOXHD1):c.1217T>A (p.Leu406Ter) GRCh37: Chr18:44174347 GRCh38: Chr18:46594384	LOXHD1	L406*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172463122.	NM_001384474.1(LOXHD1):c.1798G>T (p.Glu600Ter) GRCh37: Chr18:44159604 GRCh38: Chr18:46579641	LOXHD1	E600*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 172440123.	NM_001384474.1(LOXHD1):c.6106_6107insA (p.Leu2036fs) GRCh37: Chr18:44065057-44065058 GRCh38: Chr18:46485094-46485095	LOXHD1	L1974fs, L2036fs, L275fs, L829fs, L925fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 172419824.	NM_001384474.1(LOXHD1):c.5527A>T (p.Lys1843Ter) GRCh37: Chr18:44087666 GRCh38: Chr18:46507703	LOXHD1	K1781, K1843, K636, K732, K82*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 172418925.	NM_001384474.1(LOXHD1):c.5988del (p.Gln1997fs) GRCh37: Chr18:44068996 GRCh38: Chr18:46489033	LOXHD1	Q1935fs, Q1997fs, Q236fs, Q790fs, Q886fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 31, 2022)	criteria provided, single submitter
Select item 172408226.	NM_001384474.1(LOXHD1):c.5383_5384insCACACAC (p.Asp1795fs) GRCh37: Chr18:44098107-44098108 GRCh38: Chr18:46518144-46518145	LOXHD1	D1733fs, D1795fs, D34fs, D588fs, D684fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172406427.	NM_001384474.1(LOXHD1):c.1190G>A (p.Trp397Ter) GRCh37: Chr18:44174374 GRCh38: Chr18:46594411	LOXHD1	W397*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172396928.	NM_001384474.1(LOXHD1):c.4582A>T (p.Lys1528Ter) GRCh37: Chr18:44104829 GRCh38: Chr18:46524866	LOXHD1	K1528, K321, K417*	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 169601929.	NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) GRCh37: Chr18:44146340 GRCh38: Chr18:46566377	LOXHD1	R773C	Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 77, not specified	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169601830.	NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) GRCh37: Chr18:44190775 GRCh38: Chr18:46610812	LOXHD1	N241K	not specified, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167723631.	NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) GRCh37: Chr18:44118235 GRCh38: Chr18:46538272	LOXHD1	F120I, F1327I, F216I	not specified, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152618632.	NM_001384474.1(LOXHD1):c.4877-1G>A GRCh37: Chr18:44102273 GRCh38: Chr18:46522310	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 152606933.	NM_001384474.1(LOXHD1):c.2863G>T (p.Glu955Ter) GRCh37: Chr18:44140244 GRCh38: Chr18:46560281	LOXHD1	E955*	Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Mar 22, 2022)	criteria provided, single submitter
Select item 149750734.	NM_001384474.1(LOXHD1):c.6182+1G>T GRCh37: Chr18:44064981 GRCh38: Chr18:46485018	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Likely pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145313435.	NM_001384474.1(LOXHD1):c.3401_3404dup (p.Ser1136fs) GRCh37: Chr18:44126967-44126968 GRCh38: Chr18:46547004-46547005	LOXHD1	S1136fs, S25fs	Autosomal recessive nonsyndromic hearing loss 77, not provided	Pathogenic/Likely pathogenic (Mar 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143759636.	NM_001384474.1(LOXHD1):c.1562A>G (p.Asn521Ser) GRCh37: Chr18:44171988 GRCh38: Chr18:46592025	LOXHD1	N521S	not provided, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140608737.	NM_001384474.1(LOXHD1):c.6079G>A (p.Gly2027Arg) GRCh37: Chr18:44065085 GRCh38: Chr18:46485122	LOXHD1	G2027R, G1965R, G266R, G820R, G916R	not provided, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133357938.	NM_001384474.1(LOXHD1):c.3663del (p.Phe1221fs) GRCh37: Chr18:44122775 GRCh38: Chr18:46542812	LOXHD1	F110fs, F1221fs, F14fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 133346939.	NM_001384474.1(LOXHD1):c.2842del (p.Glu948fs) GRCh37: Chr18:44140265 GRCh38: Chr18:46560302	LOXHD1	E948fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 132324440.	NM_001384474.1(LOXHD1):c.1228C>T (p.Gln410Ter) GRCh37: Chr18:44174336 GRCh38: Chr18:46594373	LOXHD1	Q410*	not provided, Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131917041.	NM_001384474.1(LOXHD1):c.3351-1G>C GRCh37: Chr18:44127022 GRCh38: Chr18:46547059	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 130181042.	NM_001384474.1(LOXHD1):c.6526G>A (p.Val2176Met) GRCh37: Chr18:44057731 GRCh38: Chr18:46477768	LOXHD1	V1065M, V2114M, V2176M, V415M, V969M	not provided, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Dec 17, 2022)	criteria provided, single submitter
Select item 130180943.	NM_001384474.1(LOXHD1):c.3712G>A (p.Asp1238Asn) GRCh37: Chr18:44122726 GRCh38: Chr18:46542763	LOXHD1	D1238N, D127N, D31N	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Feb 23, 2020)	criteria provided, single submitter
Select item 121042644.	NM_001384474.1(LOXHD1):c.1286del (p.Leu429fs) GRCh37: Chr18:44173708 GRCh38: Chr18:46593745	LOXHD1	L429fs	Autosomal recessive nonsyndromic hearing loss 77	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 121016345.	NM_001384474.1(LOXHD1):c.6187A>C (p.Thr2063Pro) GRCh37: Chr18:44063704 GRCh38: Chr18:46483741	LOXHD1	T2001P, T2063P, T302P, T856P, T952P	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 23, 2021)	criteria provided, single submitter
Select item 120718746.	NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn) GRCh37: Chr18:44089699 GRCh38: Chr18:46509736	LOXHD1	D1765N, D1827N, D620N, D66N, D716N	not provided	Uncertain significance (Sep 5, 2019)	criteria provided, single submitter
Select item 119938147.	NM_001384474.1(LOXHD1):c.4685G>A (p.Arg1562His) GRCh37: Chr18:44104726 GRCh38: Chr18:46524763	LOXHD1	R1562H, R355H, R451H	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119928848.	NM_001384474.1(LOXHD1):c.1666C>G (p.His556Asp) GRCh37: Chr18:44159736 GRCh38: Chr18:46579773	LOXHD1	H556D	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 118568549.	NM_001384474.1(LOXHD1):c.6541del (p.Ala2181fs) GRCh37: Chr18:44057716 GRCh38: Chr18:46477753	LOXHD1	A1070fs, A2119fs, A2181fs, A420fs, A974fs	Autosomal recessive nonsyndromic hearing loss 77	Pathogenic	no assertion criteria provided
Select item 118514050.	NM_001384474.1(LOXHD1):c.759+5G>A GRCh37: Chr18:44190734 GRCh38: Chr18:46610771	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Jul 1, 2021)	no assertion criteria provided
Select item 118466651.	NM_001384474.1(LOXHD1):c.-102G>A GRCh37: Chr18:44237098 GRCh38: Chr18:46657135	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118466152.	NM_001384474.1(LOXHD1):c.1135-70C>A GRCh37: Chr18:44174499 GRCh38: Chr18:46594536	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118466053.	NM_001384474.1(LOXHD1):c.1654+69C>T GRCh37: Chr18:44171827 GRCh38: Chr18:46591864	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118465954.	NM_001384474.1(LOXHD1):c.2048-102A>G GRCh37: Chr18:44149703 GRCh38: Chr18:46569740	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118465855.	NM_001384474.1(LOXHD1):c.4096-59A>G GRCh37: Chr18:44114473 GRCh38: Chr18:46534510	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118465756.	NM_001384474.1(LOXHD1):c.4530+25C>T GRCh37: Chr18:44109115 GRCh38: Chr18:46529152	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118465657.	NM_001384474.1(LOXHD1):c.4531-120G>A GRCh37: Chr18:44105000 GRCh38: Chr18:46525037	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116756458.	NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=) GRCh37: Chr18:44087502 GRCh38: Chr18:46507539	LOXHD1		not provided	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 116151059.	NM_001384474.1(LOXHD1):c.1432-9T>C GRCh37: Chr18:44172556 GRCh38: Chr18:46592593	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 113739660.	NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=) GRCh37: Chr18:44126922 GRCh38: Chr18:46546959	LOXHD1		not provided	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 112012761.	NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala) GRCh37: Chr18:44057541 GRCh38: Chr18:46477578	LOXHD1	V2177A, V2239A, V478A	not specified	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter
Select item 108155062.	NM_001384474.1(LOXHD1):c.6050-7A>G GRCh37: Chr18:44065121 GRCh38: Chr18:46485158	LOXHD1		not provided, Autosomal recessive nonsyndromic hearing loss 77	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107681063.	NM_001384474.1(LOXHD1):c.757C>T (p.Gln253Ter) GRCh37: Chr18:44190741 GRCh38: Chr18:46610778	LOXHD1	Q253*	not provided, Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107639464.	NM_001384474.1(LOXHD1):c.6492T>G (p.Tyr2164Ter) GRCh37: Chr18:44057765 GRCh38: Chr18:46477802	LOXHD1	Y1053, Y2102, Y2164, Y403, Y957*	Autosomal recessive nonsyndromic hearing loss 77, not provided	Pathogenic/Likely pathogenic (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107539565.	NM_001384474.1(LOXHD1):c.3924C>A (p.Tyr1308Ter) GRCh37: Chr18:44118290 GRCh38: Chr18:46538327	LOXHD1	Y101, Y1308, Y197*	not provided, Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106727266.	NM_001384474.1(LOXHD1):c.4095+1G>A GRCh37: Chr18:44118118 GRCh38: Chr18:46538155	LOXHD1		not provided	Likely pathogenic (Jul 10, 2022)	criteria provided, single submitter
Select item 106710867.	NM_001384474.1(LOXHD1):c.4740+1G>A GRCh37: Chr18:44104670 GRCh38: Chr18:46524707	LOXHD1		not provided	Likely pathogenic (Apr 22, 2020)	criteria provided, single submitter
Select item 106697568.	NM_001384474.1(LOXHD1):c.760-2del GRCh37: Chr18:44184194 GRCh38: Chr18:46604231	LOXHD1		not provided	Likely pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 106493769.	NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) GRCh37: Chr18:44098161 GRCh38: Chr18:46518198	LOXHD1	N16fs, N1715fs, N1777fs, N570fs, N666fs	Autosomal recessive nonsyndromic hearing loss 77, Hearing impairment	Likely pathogenic (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106465370.	NM_001384474.1(LOXHD1):c.4194G>T (p.Arg1398Ser) GRCh37: Chr18:44114316 GRCh38: Chr18:46534353	LOXHD1	R1398S, R191S, R287S	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 106465271.	NM_001384474.1(LOXHD1):c.4936C>T (p.Arg1646Ter) GRCh37: Chr18:44102213 GRCh38: Chr18:46522250	LOXHD1	R1646, R439, R535*	not provided, Autosomal recessive nonsyndromic hearing loss 77	Pathogenic/Likely pathogenic (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104971572.	NM_001384474.1(LOXHD1):c.6097A>G (p.Asn2033Asp) GRCh37: Chr18:44065067 GRCh38: Chr18:46485104	LOXHD1	N1971D, N2033D, N272D, N826D, N922D	not provided, Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103244873.	NM_001384474.1(LOXHD1):c.5656T>A (p.Ser1886Thr) GRCh37: Chr18:44087537 GRCh38: Chr18:46507574	LOXHD1	S1824T, S125T, S1886T, S679T, S775T	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Apr 27, 2018)	criteria provided, single submitter
Select item 102915974.	NM_001384474.1(LOXHD1):c.5822C>T (p.Pro1941Leu) GRCh37: Chr18:44085857 GRCh38: Chr18:46505894	LOXHD1	P1941L, P180L, P1879L, P830L, P734L	not provided, Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99517775.	NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr) GRCh37: Chr18:44104545 GRCh38: Chr18:46524582	LOXHD1	S1587T, S380T, S476T	not provided	Uncertain significance (Mar 26, 2020)	criteria provided, single submitter
Select item 99517676.	NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys) GRCh37: Chr18:44143069 GRCh38: Chr18:46563106	LOXHD1	R853C	not provided	Uncertain significance (Feb 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99216877.	NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr) GRCh37: Chr18:44102156 GRCh38: Chr18:46522193	LOXHD1	D1665Y, D458Y, D554Y	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99216778.	NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu) GRCh37: Chr18:44085957 GRCh38: Chr18:46505994	LOXHD1	I147L, I1846L, I1908L, I701L, I797L	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99216679.	NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser) GRCh37: Chr18:44069042 GRCh38: Chr18:46489079	LOXHD1	F1919S, F1981S, F220S, F774S, F870S	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Jun 25, 2020)	no assertion criteria provided
Select item 99216580.	NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) GRCh37: Chr18:44057894 GRCh38: Chr18:46477931	LOXHD1	C1010, C2059, C2121, C360, C914*	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Jun 18, 2020)	no assertion criteria provided
Select item 99216481.	NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala) GRCh37: Chr18:44057776 GRCh38: Chr18:46477813	LOXHD1	T1050A, T2099A, T2161A, T400A, T954A	not provided	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 99216382.	NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp) GRCh37: Chr18:44057695 GRCh38: Chr18:46477732	LOXHD1	R1077W, R2126W, R2188W, R427W, R981W	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99007483.	NM_001384474.1(LOXHD1):c.246-5T>C GRCh37: Chr18:44222004 GRCh38: Chr18:46642041	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99007384.	NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu) GRCh37: Chr18:44173623 GRCh38: Chr18:46593660	LOXHD1	D457E	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99007285.	NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=) GRCh37: Chr18:44149537 GRCh38: Chr18:46569574	LOXHD1		not provided	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 99007186.	NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=) GRCh37: Chr18:44146305 GRCh38: Chr18:46566342	LOXHD1		not provided	Benign (Oct 24, 2022)	criteria provided, single submitter
Select item 99007087.	NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile) GRCh37: Chr18:44140197 GRCh38: Chr18:46560234	LOXHD1	M970I	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99006988.	NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp) GRCh37: Chr18:44137386 GRCh38: Chr18:46557423	LOXHD1	N1095D	Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 99006889.	NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=) GRCh37: Chr18:44113249 GRCh38: Chr18:46533286	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98225890.	NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) GRCh37: Chr18:44113253 GRCh38: Chr18:46533290	LOXHD1	W1416, W209, W305*	Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Sep 30, 2020)	no assertion criteria provided
Select item 98225791.	NM_001384474.1(LOXHD1):c.3351-1G>A GRCh37: Chr18:44127022 GRCh38: Chr18:46547059	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77	Pathogenic (Sep 30, 2020)	no assertion criteria provided
Select item 98225692.	NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) GRCh37: Chr18:44104491 GRCh38: Chr18:46524528	LOXHD1	M1605T, M398T, M494T	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 98225593.	NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) GRCh37: Chr18:44101107 GRCh38: Chr18:46521144	LOXHD1	R1742C, R535C, R631C	not specified, not provided	Conflicting interpretations of pathogenicity (Oct 20, 2022)	criteria provided, conflicting interpretations
Select item 98225494.	NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) GRCh37: Chr18:44063667 GRCh38: Chr18:46483704	LOXHD1	G2013E, G2075E, G314E, G868E, G964E	not specified, not provided	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98225395.	NM_001384474.1(LOXHD1):c.4212+5G>A GRCh37: Chr18:44114293 GRCh38: Chr18:46534330	LOXHD1		not specified	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 96055996.	NM_001384474.1(LOXHD1):c.4375+1G>T GRCh37: Chr18:44113124 GRCh38: Chr18:46533161	LOXHD1		not provided	Likely pathogenic (Apr 25, 2022)	criteria provided, single submitter
Select item 95524597.	NM_001384474.1(LOXHD1):c.3350+1G>A GRCh37: Chr18:44137318 GRCh38: Chr18:46557355	LOXHD1		not provided	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 95147998.	NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter) GRCh37: Chr18:44140334 GRCh38: Chr18:46560371	LOXHD1	Q925*	Autosomal recessive nonsyndromic hearing loss 77, not provided	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94471899.	NM_001384474.1(LOXHD1):c.246-2A>G GRCh37: Chr18:44222001 GRCh38: Chr18:46642038	LOXHD1		Autosomal recessive nonsyndromic hearing loss 77, not provided	Likely pathogenic (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 930147100.	NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu) GRCh37: Chr18:44140378 GRCh38: Chr18:46560415	LOXHD1	P910L	not specified	Uncertain significance (Nov 27, 2019)	criteria provided, single submitter

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