ClinVar for MedGen (Select 343997) - ClinVar

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Items: 78

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13341221.	NM_182548.4(LHFPL5):c.*16+1G>A GRCh37: Chr6:35787241 GRCh38: Chr6:35819464	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 11856122.	NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs) GRCh37: Chr6:35782370-35782371 GRCh38: Chr6:35814593-35814594	LHFPL5	R158fs	Autosomal recessive nonsyndromic hearing loss 67	Pathogenic	no assertion criteria provided
Select item 9079663.	NM_182548.4(LHFPL5):c.*447C>T GRCh37: Chr6:35791189 GRCh38: Chr6:35823412	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 9079654.	NM_182548.4(LHFPL5):c.*443C>T GRCh37: Chr6:35791185 GRCh38: Chr6:35823408	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 9079645.	NM_182548.4(LHFPL5):c.*433C>T GRCh37: Chr6:35791175 GRCh38: Chr6:35823398	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9079636.	NM_182548.4(LHFPL5):c.*431C>T GRCh37: Chr6:35791173 GRCh38: Chr6:35823396	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9079627.	NM_182548.4(LHFPL5):c.*429C>T GRCh37: Chr6:35791171 GRCh38: Chr6:35823394	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9079618.	NM_182548.4(LHFPL5):c.*427C>T GRCh37: Chr6:35791169 GRCh38: Chr6:35823392	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 9079609.	NM_182548.4(LHFPL5):c.*425C>T GRCh37: Chr6:35791167 GRCh38: Chr6:35823390	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90698610.	NM_182548.4(LHFPL5):c.*421T>C GRCh37: Chr6:35791163 GRCh38: Chr6:35823386	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90698511.	NM_182548.4(LHFPL5):c.*417T>C GRCh37: Chr6:35791159 GRCh38: Chr6:35823382	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90698412.	NM_182548.4(LHFPL5):c.*386A>T GRCh37: Chr6:35791128 GRCh38: Chr6:35823351	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90698313.	NM_182548.4(LHFPL5):c.*241G>A GRCh37: Chr6:35790983 GRCh38: Chr6:35823206	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90596114.	NM_182548.4(LHFPL5):c.*609G>A GRCh37: Chr6:35791351 GRCh38: Chr6:35823574	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90596015.	NM_182548.4(LHFPL5):c.*516T>A GRCh37: Chr6:35791258 GRCh38: Chr6:35823481	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90595916.	NM_182548.4(LHFPL5):c.*510A>T GRCh37: Chr6:35791252 GRCh38: Chr6:35823475	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90544817.	NM_182548.4(LHFPL5):c.*508A>T GRCh37: Chr6:35791250 GRCh38: Chr6:35823473	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90544718.	NM_182548.4(LHFPL5):c.*506A>T GRCh37: Chr6:35791248 GRCh38: Chr6:35823471	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90544619.	NM_182548.4(LHFPL5):c.*501C>G GRCh37: Chr6:35791243 GRCh38: Chr6:35823466	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90544520.	NM_182548.4(LHFPL5):c.*489C>T GRCh37: Chr6:35791231 GRCh38: Chr6:35823454	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 90544421.	NM_182548.4(LHFPL5):c.*487C>T GRCh37: Chr6:35791229 GRCh38: Chr6:35823452	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90537822.	NM_182548.4(LHFPL5):c.*199A>G GRCh37: Chr6:35790941 GRCh38: Chr6:35823164	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90537723.	NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) GRCh37: Chr6:35787214 GRCh38: Chr6:35819437	LHFPL5	E217G	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90537624.	NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) GRCh37: Chr6:35782437 GRCh38: Chr6:35814660	LHFPL5	R176H	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 90537525.	NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) GRCh37: Chr6:35773858 GRCh38: Chr6:35806081	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90465426.	NM_182548.4(LHFPL5):c.*479T>C GRCh37: Chr6:35791221 GRCh38: Chr6:35823444	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 90465327.	NM_182548.4(LHFPL5):c.*461T>C GRCh37: Chr6:35791203 GRCh38: Chr6:35823426	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90458728.	NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) GRCh37: Chr6:35773529 GRCh38: Chr6:35805752	LHFPL5	M28L	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 72779829.	NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) GRCh37: Chr6:35773782 GRCh38: Chr6:35806005	LHFPL5	I112T	not provided, Autosomal recessive nonsyndromic hearing loss 67	Conflicting interpretations of pathogenicity (Jan 29, 2021)	criteria provided, conflicting interpretations
Select item 58742230.	NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) GRCh37: Chr6:35773774 GRCh38: Chr6:35805997	LHFPL5	I109M	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 56208631.	NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) GRCh37: Chr6:35782362 GRCh38: Chr6:35814585	LHFPL5	G151V	Autosomal recessive nonsyndromic hearing loss 67, Hearing loss, autosomal recessive	Pathogenic/Likely pathogenic (Jul 5, 2018)	no assertion criteria provided
Select item 40228232.	NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) GRCh37: Chr6:35773448 GRCh38: Chr6:35805671	LHFPL5	M1V	Autosomal recessive nonsyndromic hearing loss 67	Likely pathogenic (Aug 1, 2020)	criteria provided, single submitter
Select item 37570533.	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) GRCh37: Chr6:35782485 GRCh38: Chr6:35814708	LHFPL5	L192P	Autosomal recessive non-syndromic intellectual disability, Autosomal recessive nonsyndromic hearing loss 67	Pathogenic (Feb 12, 2017)	criteria provided, single submitter
Select item 35655434.	NM_182548.4(LHFPL5):c.*1035C>T GRCh37: Chr6:35791777 GRCh38: Chr6:35824000	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35655335.	NM_182548.4(LHFPL5):c.*1010G>A GRCh37: Chr6:35791752 GRCh38: Chr6:35823975	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35655136.	NM_182548.4(LHFPL5):c.*827G>T GRCh37: Chr6:35791569 GRCh38: Chr6:35823792	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35655037.	NM_182548.4(LHFPL5):c.*803A>G GRCh37: Chr6:35791545 GRCh38: Chr6:35823768	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35654938.	NM_182548.4(LHFPL5):c.*790A>G GRCh37: Chr6:35791532 GRCh38: Chr6:35823755	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35654839.	NM_182548.4(LHFPL5):c.*779G>A GRCh37: Chr6:35791521 GRCh38: Chr6:35823744	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35654740.	NM_182548.4(LHFPL5):c.*778C>T GRCh37: Chr6:35791520 GRCh38: Chr6:35823743	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35654541.	NM_182548.4(LHFPL5):c.*560G>C GRCh37: Chr6:35791302 GRCh38: Chr6:35823525	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35654342.	NM_182548.4(LHFPL5):c.*514T>A GRCh37: Chr6:35791256 GRCh38: Chr6:35823479	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35654143.	NM_182548.4(LHFPL5):c.*512A>T GRCh37: Chr6:35791254 GRCh38: Chr6:35823477	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35652544.	NM_182548.4(LHFPL5):c.*485C>T GRCh37: Chr6:35791227 GRCh38: Chr6:35823450	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35652145.	NM_182548.4(LHFPL5):c.*483T>C GRCh37: Chr6:35791225 GRCh38: Chr6:35823448	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35652046.	NM_182548.4(LHFPL5):c.*481T>C GRCh37: Chr6:35791223 GRCh38: Chr6:35823446	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 35651847.	NM_182548.4(LHFPL5):c.*477T>C GRCh37: Chr6:35791219 GRCh38: Chr6:35823442	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35651548.	NM_182548.4(LHFPL5):c.*475C>T GRCh37: Chr6:35791217 GRCh38: Chr6:35823440	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35651349.	NM_182548.4(LHFPL5):c.*465T>C GRCh37: Chr6:35791207 GRCh38: Chr6:35823430	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35650950.	NM_182548.4(LHFPL5):c.*459C>T GRCh37: Chr6:35791201 GRCh38: Chr6:35823424	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35650751.	NM_182548.4(LHFPL5):c.*457C>T GRCh37: Chr6:35791199 GRCh38: Chr6:35823422	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35650652.	NM_182548.4(LHFPL5):c.*449C>T GRCh37: Chr6:35791191 GRCh38: Chr6:35823414	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35650253.	NM_182548.4(LHFPL5):c.*423T>C GRCh37: Chr6:35791165 GRCh38: Chr6:35823388	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35649954.	NM_182548.4(LHFPL5):c.*419T>C GRCh37: Chr6:35791161 GRCh38: Chr6:35823384	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35649755.	NM_182548.4(LHFPL5):c.*385C>T GRCh37: Chr6:35791127 GRCh38: Chr6:35823350	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35649656.	NM_182548.4(LHFPL5):c.*345G>A GRCh37: Chr6:35791087 GRCh38: Chr6:35823310	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 35649557.	NM_182548.4(LHFPL5):c.*231G>C GRCh37: Chr6:35790973 GRCh38: Chr6:35823196	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35649458.	NM_182548.4(LHFPL5):c.*170A>G GRCh37: Chr6:35790912 GRCh38: Chr6:35823135	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35649359.	NM_182548.4(LHFPL5):c.*169G>C GRCh37: Chr6:35790911 GRCh38: Chr6:35823134	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35649260.	NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) GRCh37: Chr6:35782416 GRCh38: Chr6:35814639	LHFPL5	T169M	not provided, Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 35649161.	NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) GRCh37: Chr6:35773819 GRCh38: Chr6:35806042	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35649062.	NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) GRCh37: Chr6:35773813 GRCh38: Chr6:35806036	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35648963.	NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) GRCh37: Chr6:35773653 GRCh38: Chr6:35805876	LHFPL5	V69A	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35648864.	NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) GRCh37: Chr6:35773587 GRCh38: Chr6:35805810	LHFPL5	P47H	Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35648765.	NM_182548.4(LHFPL5):c.-30G>C GRCh37: Chr6:35773418 GRCh38: Chr6:35805641	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35648666.	NM_182548.4(LHFPL5):c.-63C>G GRCh37: Chr6:35773385 GRCh38: Chr6:35805608	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35648567.	NM_182548.4(LHFPL5):c.-93C>T GRCh37: Chr6:35773355 GRCh38: Chr6:35805578	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35648468.	NM_182548.4(LHFPL5):c.-128C>T GRCh37: Chr6:35773320 GRCh38: Chr6:35805543	LHFPL5		not provided, Autosomal recessive nonsyndromic hearing loss 67	Conflicting interpretations of pathogenicity (Aug 23, 2018)	criteria provided, conflicting interpretations
Select item 35648369.	NM_182548.4(LHFPL5):c.-132A>G GRCh37: Chr6:35773316 GRCh38: Chr6:35805539	LHFPL5		not provided, Autosomal recessive nonsyndromic hearing loss 67	Conflicting interpretations of pathogenicity (Sep 2, 2019)	criteria provided, conflicting interpretations
Select item 35648270.	NM_182548.4(LHFPL5):c.-161A>G GRCh37: Chr6:35773287 GRCh38: Chr6:35805510	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 35648071.	NM_182548.4(LHFPL5):c.-305G>A GRCh37: Chr6:35773143 GRCh38: Chr6:35805366	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35647972.	NM_182548.3(LHFPL5):c.-335A>G GRCh37: Chr6:35773113 GRCh38: Chr6:35805336	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 35647873.	NM_182548.3(LHFPL5):c.-337G>T GRCh37: Chr6:35773111 GRCh38: Chr6:35805334	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 22880074.	NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) GRCh37: Chr6:35773490 GRCh38: Chr6:35805713	LHFPL5	H15Y	not specified, Autosomal recessive nonsyndromic hearing loss 67, not provided	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 169775.	NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met) GRCh37: Chr6:35782404 GRCh38: Chr6:35814627	LHFPL5	T165M	Autosomal recessive nonsyndromic hearing loss 67	Pathogenic (Jul 1, 2006)	no assertion criteria provided
Select item 169676.	NM_182548.4(LHFPL5):c.649+1del GRCh37: Chr6:35782559 GRCh38: Chr6:35814782	LHFPL5		Ear malformation	Likely pathogenic (Jul 10, 2021)	criteria provided, single submitter
Select item 169577.	NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) GRCh37: Chr6:35773827 GRCh38: Chr6:35806050	LHFPL5	Y127C	Autosomal recessive nonsyndromic hearing loss 67	Pathogenic (Aug 1, 2006)	no assertion criteria provided
Select item 169478.	NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) GRCh37: Chr6:35773693 GRCh38: Chr6:35805916	LHFPL5		Autosomal recessive nonsyndromic hearing loss 67	Pathogenic (May 21, 2020)	criteria provided, single submitter

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Items: 78