Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 67 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30177809 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 67 | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:30177809 | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:12477932 | PMID:15905332 | PMID:16459341 | PMID:19102128 | PMID:20301607 | PMID:21816241 | PMID:21873635 | PMID:24623722 | PMID:25416956 | PMID:25910212 | PMID:26437881 | PMID:26964900 |
PMID:30177809 | PMID:30298622 | PMID:30476627 | PMID:31126177 | PMID:31515488 | PMID:32296183 | PMID:33168709 | PMID:33961781 |
LHFPL5 (Homo sapiens - human) |
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Lhfpl5 (Mus musculus - house mouse) |
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Lhfpl5 (Rattus norvegicus - Norway rat) |
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Lhfpl5 (Chinchilla lanigera - long-tailed chinchilla) |
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LHFPL5 (Pan paniscus - bonobo/pygmy chimpanzee) |
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LHFPL5 (Canis lupus familiaris - dog) |
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Lhfpl5 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LHFPL5 (Sus scrofa - pig) |
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LHFPL5 (Chlorocebus sabaeus - green monkey) |
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Lhfpl5 (Heterocephalus glaber - naked mole-rat) |
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Variants in LHFPL5
138 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer) | deletion | Autosomal recessive nonsyndromic hearing loss 67 [RCV000001762]|Hearing loss, autosomal recessive [RCV001291454] | Chr6:35805916 [GRCh38] Chr6:35773693 [GRCh37] Chr6:6p21.31 |
pathogenic|likely pathogenic |
NM_182548.4(LHFPL5):c.649+1del | deletion | Autosomal recessive nonsyndromic hearing loss 67 [RCV000001764]|Ear malformation [RCV001813935] | Chr6:35814782 [GRCh38] Chr6:35782559 [GRCh37] Chr6:6p21.31 |
pathogenic|likely pathogenic |
NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000001763] | Chr6:35806050 [GRCh38] Chr6:35773827 [GRCh37] Chr6:6p21.31 |
pathogenic |
NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000001765]|LHFPL5-related condition [RCV003964787] | Chr6:35814627 [GRCh38] Chr6:35782404 [GRCh37] Chr6:6p21.31 |
pathogenic|uncertain significance |
NM_182548.3(LHFPL5):c.451G>A (p.Gly151Ser) | single nucleotide variant | Malignant melanoma [RCV000061416] | Chr6:35814584 [GRCh38] Chr6:35782361 [GRCh37] Chr6:35890339 [NCBI36] Chr6:6p21.31 |
not provided |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
NM_182548.4(LHFPL5):c.214G>A (p.Val72Met) | single nucleotide variant | not specified [RCV000150932] | Chr6:35805884 [GRCh38] Chr6:35773661 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu) | single nucleotide variant | not specified [RCV000150935] | Chr6:35814771 [GRCh38] Chr6:35782548 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.476G>A (p.Arg159His) | single nucleotide variant | LHFPL5-related condition [RCV003907421]|not provided [RCV001556721]|not specified [RCV000150933] | Chr6:35814609 [GRCh38] Chr6:35782386 [GRCh37] Chr6:6p21.31 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn) | single nucleotide variant | LHFPL5-related condition [RCV003917473]|not provided [RCV000975794]|not specified [RCV000150934] | Chr6:35814748 [GRCh38] Chr6:35782525 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001152591]|not provided [RCV000946938]|not specified [RCV000218391] | Chr6:35805713 [GRCh38] Chr6:35773490 [GRCh37] Chr6:6p21.31 |
likely benign|uncertain significance |
NM_182548.4(LHFPL5):c.411G>A (p.Ala137=) | single nucleotide variant | LHFPL5-related condition [RCV003907808]|not provided [RCV001561498]|not specified [RCV000218964] | Chr6:35806081 [GRCh38] Chr6:35773858 [GRCh37] Chr6:6p21.31 |
likely benign|conflicting interpretations of pathogenicity |
NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu) | single nucleotide variant | not specified [RCV000214805] | Chr6:35805846 [GRCh38] Chr6:35773623 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.525C>A (p.Ile175=) | single nucleotide variant | not specified [RCV000223212] | Chr6:35814658 [GRCh38] Chr6:35782435 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys) | single nucleotide variant | not specified [RCV000223355] | Chr6:35814608 [GRCh38] Chr6:35782385 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*423T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000278810] | Chr6:35823388 [GRCh38] Chr6:35791165 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.*560G>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000270857] | Chr6:35823525 [GRCh38] Chr6:35791302 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.474G>A (p.Arg158=) | single nucleotide variant | not specified [RCV000244939] | Chr6:35814607 [GRCh38] Chr6:35782384 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.*169G>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000269949] | Chr6:35823134 [GRCh38] Chr6:35790911 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*457C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000314322] | Chr6:35823422 [GRCh38] Chr6:35791199 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.-128C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000396603]|not provided [RCV001591023] | Chr6:35805543 [GRCh38] Chr6:35773320 [GRCh37] Chr6:6p21.31 |
likely benign|uncertain significance |
NM_182548.4(LHFPL5):c.*512A>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000396715] | Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.*449C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000397220] | Chr6:35823414 [GRCh38] Chr6:35791191 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*419T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000267726] | Chr6:35823384 [GRCh38] Chr6:35791161 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*514T>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000368608] | Chr6:35823479 [GRCh38] Chr6:35791256 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*485C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000302230] | Chr6:35823450 [GRCh38] Chr6:35791227 [GRCh37] Chr6:6p21.31 |
likely benign|uncertain significance |
NM_182548.4(LHFPL5):c.*465T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000302629] | Chr6:35823430 [GRCh38] Chr6:35791207 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*904del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000316674] | Chr6:35823859 [GRCh38] Chr6:35791636 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.-63C>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000334847] | Chr6:35805608 [GRCh38] Chr6:35773385 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.366C>T (p.Asn122=) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000400063] | Chr6:35806036 [GRCh38] Chr6:35773813 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*484AC[14] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000346680] | Chr6:35823449..35823450 [GRCh38] Chr6:35791226..35791227 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*827G>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000287259] | Chr6:35823792 [GRCh38] Chr6:35791569 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*803A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000379446] | Chr6:35823768 [GRCh38] Chr6:35791545 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*345G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000271185] | Chr6:35823310 [GRCh38] Chr6:35791087 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.-132A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000339572]|not provided [RCV001537263] | Chr6:35805539 [GRCh38] Chr6:35773316 [GRCh37] Chr6:6p21.31 |
likely benign|uncertain significance |
NM_182548.3(LHFPL5):c.-337G>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000382195] | Chr6:35805334 [GRCh38] Chr6:35773111 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*385C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000321570] | Chr6:35823350 [GRCh38] Chr6:35791127 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*423_*426del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000323466] | Chr6:35823387..35823390 [GRCh38] Chr6:35791164..35791167 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*481T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000385426] | Chr6:35823446 [GRCh38] Chr6:35791223 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.*475C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000260440] | Chr6:35823440 [GRCh38] Chr6:35791217 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*231G>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000365622] | Chr6:35823196 [GRCh38] Chr6:35790973 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*477T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000261625] | Chr6:35823442 [GRCh38] Chr6:35791219 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*425CA[17] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000294029] | Chr6:35823389..35823390 [GRCh38] Chr6:35791166..35791167 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*778C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000366718] | Chr6:35823743 [GRCh38] Chr6:35791520 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.-30G>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000390041] | Chr6:35805641 [GRCh38] Chr6:35773418 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*483T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000295870] | Chr6:35823448 [GRCh38] Chr6:35791225 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.-93C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000279683] | Chr6:35805578 [GRCh38] Chr6:35773355 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*1035C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000280391] | Chr6:35824000 [GRCh38] Chr6:35791777 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000369241]|not provided [RCV002288978] | Chr6:35814639 [GRCh38] Chr6:35782416 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*779G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000264820] | Chr6:35823744 [GRCh38] Chr6:35791521 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*1010G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000372669] | Chr6:35823975 [GRCh38] Chr6:35791752 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*505_*506insTCTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000273892] | Chr6:35823469..35823470 [GRCh38] Chr6:35791246..35791247 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000277351] | Chr6:35823473..35823477 [GRCh38] Chr6:35791250..35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*465_*466del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000266250] | Chr6:35823429..35823430 [GRCh38] Chr6:35791206..35791207 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000280081] | Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.372C>T (p.Ala124=) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000314844] | Chr6:35806042 [GRCh38] Chr6:35773819 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*461TACA[1] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000345774] | Chr6:35823423..35823426 [GRCh38] Chr6:35791200..35791203 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*514TC[10] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000315116] | Chr6:35823477..35823478 [GRCh38] Chr6:35791254..35791255 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*484AC[18] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000382135] | Chr6:35823448..35823449 [GRCh38] Chr6:35791225..35791226 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*477TA[3] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000315725] | Chr6:35823441..35823442 [GRCh38] Chr6:35791218..35791219 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*480_*481insCA | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000330949] | Chr6:35823444..35823445 [GRCh38] Chr6:35791221..35791222 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*506_*512delinsTCTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000331289] | Chr6:35823471..35823477 [GRCh38] Chr6:35791248..35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*509_*510insTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000381942] | Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*459C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000402020] | Chr6:35823424 [GRCh38] Chr6:35791201 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*461_*466del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000365292] | Chr6:35823425..35823430 [GRCh38] Chr6:35791202..35791207 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.-298AG[1] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000383632]|not provided [RCV001709628] | Chr6:35805373..35805374 [GRCh38] Chr6:35773150..35773151 [GRCh37] Chr6:6p21.31 |
benign|likely benign |
NM_182548.4(LHFPL5):c.*170A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000306246] | Chr6:35823135 [GRCh38] Chr6:35790912 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*425CA[15] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000348843] | Chr6:35823389..35823394 [GRCh38] Chr6:35791166..35791171 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.-161A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000284510] | Chr6:35805510 [GRCh38] Chr6:35773287 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000284087] | Chr6:35823475..35823477 [GRCh38] Chr6:35791252..35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000368236] | Chr6:35805876 [GRCh38] Chr6:35773653 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*507_*508insTCTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000369599] | Chr6:35823471..35823472 [GRCh38] Chr6:35791248..35791249 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*512delinsTCTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000337436] | Chr6:35823477 [GRCh38] Chr6:35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*790A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000322555] | Chr6:35823755 [GRCh38] Chr6:35791532 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*425CA[19] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000338516] | Chr6:35823388..35823389 [GRCh38] Chr6:35791165..35791166 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*423_*428del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000373514] | Chr6:35823387..35823392 [GRCh38] Chr6:35791164..35791169 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.3(LHFPL5):c.-335A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000288173] | Chr6:35805336 [GRCh38] Chr6:35773113 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*508_*512delinsTCTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000324983] | Chr6:35823473..35823477 [GRCh38] Chr6:35791250..35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*484AC[16] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000299736] | Chr6:35823448..35823449 [GRCh38] Chr6:35791225..35791226 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.140C>A (p.Pro47His) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000299489] | Chr6:35805810 [GRCh38] Chr6:35773587 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*461_*462del | deletion | Nonsyndromic Hearing Loss, Recessive [RCV000310846] | Chr6:35823425..35823426 [GRCh38] Chr6:35791202..35791203 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*514TC[6] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000311671] | Chr6:35823478..35823479 [GRCh38] Chr6:35791255..35791256 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*505_*506insTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000356922] | Chr6:35823469..35823470 [GRCh38] Chr6:35791246..35791247 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*477_*483delinsCACACACAC | indel | Nonsyndromic Hearing Loss, Recessive [RCV000374879] | Chr6:35823442..35823448 [GRCh38] Chr6:35791219..35791225 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*510_*512delinsTCTCTCTCT | indel | Nonsyndromic Hearing Loss, Recessive [RCV000376228] | Chr6:35823475..35823477 [GRCh38] Chr6:35791252..35791254 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*477TA[5] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000289417] | Chr6:35823440..35823441 [GRCh38] Chr6:35791217..35791218 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*511_*512insTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000341495] | Chr6:35823475..35823476 [GRCh38] Chr6:35791252..35791253 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*417TA[3] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000376306] | Chr6:35823381..35823382 [GRCh38] Chr6:35791158..35791159 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*509_*510insTCTC | insertion | Nonsyndromic Hearing Loss, Recessive [RCV000289889] | Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*672dup | duplication | Nonsyndromic Hearing Loss, Recessive [RCV000328342] | Chr6:35823631..35823632 [GRCh38] Chr6:35791408..35791409 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.*510TC[4] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000328480] | Chr6:35823473..35823474 [GRCh38] Chr6:35791250..35791251 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.-305G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000329082] | Chr6:35805366 [GRCh38] Chr6:35773143 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*512TC[3] | microsatellite | Nonsyndromic Hearing Loss, Recessive [RCV000398228] | Chr6:35823475..35823476 [GRCh38] Chr6:35791252..35791253 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*479T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001152695] | Chr6:35823444 [GRCh38] Chr6:35791221 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.1A>G (p.Met1Val) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000454165] | Chr6:35805671 [GRCh38] Chr6:35773448 [GRCh37] Chr6:6p21.31 |
pathogenic|likely pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000498363] | Chr6:35814708 [GRCh38] Chr6:35782485 [GRCh37] Chr6:6p21.31 |
pathogenic |
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp) | single nucleotide variant | not specified [RCV000600803] | Chr6:35814605 [GRCh38] Chr6:35782382 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.321C>T (p.Leu107=) | single nucleotide variant | not provided [RCV001591356]|not specified [RCV000612649] | Chr6:35805991 [GRCh38] Chr6:35773768 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.648C>T (p.Thr216=) | single nucleotide variant | not provided [RCV002529361]|not specified [RCV000613537] | Chr6:35814781 [GRCh38] Chr6:35782558 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.649+17A>G | single nucleotide variant | not provided [RCV003825347] | Chr6:35814799 [GRCh38] Chr6:35782576 [GRCh37] Chr6:6p21.31 |
likely benign |
GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3 | copy number gain | not provided [RCV000682660] | Chr6:34683518..36905281 [GRCh37] Chr6:6p21.31-21.2 |
likely pathogenic |
NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000681540]|Hearing loss, autosomal recessive [RCV001291455] | Chr6:35814585 [GRCh38] Chr6:35782362 [GRCh37] Chr6:6p21.31 |
pathogenic|likely pathogenic |
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV000714562] | Chr6:35805997 [GRCh38] Chr6:35773774 [GRCh37] Chr6:6p21.31 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p21.31(chr6:35755658-35779879)x3 | copy number gain | not provided [RCV000745647] | Chr6:35755658..35779879 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.453T>C (p.Gly151=) | single nucleotide variant | not provided [RCV000897997] | Chr6:35814586 [GRCh38] Chr6:35782363 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001152593]|not provided [RCV000902192] | Chr6:35806005 [GRCh38] Chr6:35773782 [GRCh37] Chr6:6p21.31 |
likely benign|uncertain significance |
NM_182548.4(LHFPL5):c.89dup (p.Thr31fs) | duplication | Rare genetic deafness [RCV000826115] | Chr6:35805755..35805756 [GRCh38] Chr6:35773532..35773533 [GRCh37] Chr6:6p21.31 |
likely pathogenic |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NC_000006.12:g.(?_35805660)_(35819505_?)dup | duplication | not specified [RCV000825949] | Chr6:35773437..35787282 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*461T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001152694] | Chr6:35823426 [GRCh38] Chr6:35791203 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.562G>A (p.Asp188Asn) | single nucleotide variant | not provided [RCV001093080] | Chr6:35814695 [GRCh38] Chr6:35782472 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*427C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158170] | Chr6:35823392 [GRCh38] Chr6:35791169 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*431C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158172] | Chr6:35823396 [GRCh38] Chr6:35791173 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.650-315T>G | single nucleotide variant | not provided [RCV001598333] | Chr6:35819122 [GRCh38] Chr6:35786899 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.412+41G>A | single nucleotide variant | not provided [RCV001589522] | Chr6:35806123 [GRCh38] Chr6:35773900 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.413-37C>T | single nucleotide variant | not provided [RCV001589966] | Chr6:35814509 [GRCh38] Chr6:35782286 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.507G>A (p.Thr169=) | single nucleotide variant | LHFPL5-related condition [RCV003948613]|not provided [RCV001570348] | Chr6:35814640 [GRCh38] Chr6:35782417 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.*425C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158169] | Chr6:35823390 [GRCh38] Chr6:35791167 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*443C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158174] | Chr6:35823408 [GRCh38] Chr6:35791185 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*510A>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001154822] | Chr6:35823475 [GRCh38] Chr6:35791252 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*516T>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001154823] | Chr6:35823481 [GRCh38] Chr6:35791258 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*609G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001154824] | Chr6:35823574 [GRCh38] Chr6:35791351 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.412+21G>A | single nucleotide variant | not provided [RCV001556283] | Chr6:35806103 [GRCh38] Chr6:35773880 [GRCh37] Chr6:6p21.31 |
likely benign |
NC_000006.12:g.35804978G>A | single nucleotide variant | not provided [RCV001677934] | Chr6:35804978 [GRCh38] Chr6:35772755 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.*241G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001156496] | Chr6:35823206 [GRCh38] Chr6:35790983 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*417T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001156498] | Chr6:35823382 [GRCh38] Chr6:35791159 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*386A>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001156497] | Chr6:35823351 [GRCh38] Chr6:35791128 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*447C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158175] | Chr6:35823412 [GRCh38] Chr6:35791189 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001152592] | Chr6:35805752 [GRCh38] Chr6:35773529 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153872] | Chr6:35819437 [GRCh38] Chr6:35787214 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.527G>A (p.Arg176His) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153871] | Chr6:35814660 [GRCh38] Chr6:35782437 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*506A>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153977] | Chr6:35823471 [GRCh38] Chr6:35791248 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*16+177C>T | single nucleotide variant | not provided [RCV001665359] | Chr6:35819640 [GRCh38] Chr6:35787417 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.*16+259A>G | single nucleotide variant | not provided [RCV001667710] | Chr6:35819722 [GRCh38] Chr6:35787499 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.*429C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158171] | Chr6:35823394 [GRCh38] Chr6:35791171 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.411G>T (p.Ala137=) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153870] | Chr6:35806081 [GRCh38] Chr6:35773858 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*433C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001158173] | Chr6:35823398 [GRCh38] Chr6:35791175 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*199A>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153873] | Chr6:35823164 [GRCh38] Chr6:35790941 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*487C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153974] | Chr6:35823452 [GRCh38] Chr6:35791229 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*501C>G | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153976] | Chr6:35823466 [GRCh38] Chr6:35791243 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*489C>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153975] | Chr6:35823454 [GRCh38] Chr6:35791231 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*421T>C | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001156499] | Chr6:35823386 [GRCh38] Chr6:35791163 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*508A>T | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001153978] | Chr6:35823473 [GRCh38] Chr6:35791250 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter) | single nucleotide variant | Hearing impairment [RCV001375080] | Chr6:35814637 [GRCh38] Chr6:35782414 [GRCh37] Chr6:6p21.31 |
likely pathogenic |
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497) | copy number loss | Severe intrauterine growth retardation [RCV001291973] | Chr6:34401304..38435497 [GRCh37] Chr6:6p21.31-21.2 |
pathogenic |
NM_182548.4(LHFPL5):c.490C>T (p.Gln164Ter) | single nucleotide variant | not provided [RCV003325081] | Chr6:35814623 [GRCh38] Chr6:35782400 [GRCh37] Chr6:6p21.31 |
pathogenic|uncertain significance |
NM_182548.4(LHFPL5):c.592G>A (p.Val198Met) | single nucleotide variant | Hearing impairment [RCV001375450]|not provided [RCV001865880] | Chr6:35814725 [GRCh38] Chr6:35782502 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.*16+231dup | duplication | not provided [RCV001715250] | Chr6:35819682..35819683 [GRCh38] Chr6:35787459..35787460 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.*16+231del | deletion | not provided [RCV001652414] | Chr6:35819683 [GRCh38] Chr6:35787460 [GRCh37] Chr6:6p21.31 |
benign |
NM_182548.4(LHFPL5):c.97A>C (p.Thr33Pro) | single nucleotide variant | not provided [RCV001768903] | Chr6:35805767 [GRCh38] Chr6:35773544 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.627C>T (p.Asp209=) | single nucleotide variant | not provided [RCV001733108] | Chr6:35814760 [GRCh38] Chr6:35782537 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.*16+1G>A | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV001809334] | Chr6:35819464 [GRCh38] Chr6:35787241 [GRCh37] Chr6:6p21.31 |
pathogenic |
NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter) | single nucleotide variant | LHFPL5-related condition [RCV003394262]|not provided [RCV001806662] | Chr6:35806065 [GRCh38] Chr6:35773842 [GRCh37] Chr6:6p21.31 |
pathogenic|likely pathogenic |
NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs) | duplication | Autosomal recessive nonsyndromic hearing loss 67 [RCV001823221] | Chr6:35814593..35814594 [GRCh38] Chr6:35782370..35782371 [GRCh37] Chr6:6p21.31 |
pathogenic |
NM_182548.4(LHFPL5):c.430G>A (p.Gly144Ser) | single nucleotide variant | not provided [RCV002045484] | Chr6:35814563 [GRCh38] Chr6:35782340 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.556A>G (p.Ile186Val) | single nucleotide variant | not provided [RCV002045170] | Chr6:35814689 [GRCh38] Chr6:35782466 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.169C>T (p.Pro57Ser) | single nucleotide variant | Inborn genetic diseases [RCV002560636]|not provided [RCV001967255] | Chr6:35805839 [GRCh38] Chr6:35773616 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.605G>A (p.Arg202Gln) | single nucleotide variant | not provided [RCV001945977] | Chr6:35814738 [GRCh38] Chr6:35782515 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.187G>A (p.Gly63Ser) | single nucleotide variant | Inborn genetic diseases [RCV003382696]|not provided [RCV001893632] | Chr6:35805857 [GRCh38] Chr6:35773634 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.153C>T (p.Gly51=) | single nucleotide variant | not provided [RCV001985704] | Chr6:35805823 [GRCh38] Chr6:35773600 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr) | single nucleotide variant | Inborn genetic diseases [RCV002545446]|not provided [RCV002049371] | Chr6:35814593 [GRCh38] Chr6:35782370 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.473G>A (p.Arg158Gln) | single nucleotide variant | not provided [RCV001898175] | Chr6:35814606 [GRCh38] Chr6:35782383 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.649+6C>A | single nucleotide variant | not provided [RCV001979553] | Chr6:35814788 [GRCh38] Chr6:35782565 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.511G>A (p.Gly171Ser) | single nucleotide variant | not provided [RCV001979407] | Chr6:35814644 [GRCh38] Chr6:35782421 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NC_000006.11:g.(?_30695893)_(36953949_?)dup | duplication | Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] | Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2 |
uncertain significance |
NM_182548.4(LHFPL5):c.248C>T (p.Pro83Leu) | single nucleotide variant | not provided [RCV002293142] | Chr6:35805918 [GRCh38] Chr6:35773695 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.314T>C (p.Met105Thr) | single nucleotide variant | not provided [RCV002462712] | Chr6:35805984 [GRCh38] Chr6:35773761 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.338T>C (p.Ile113Thr) | single nucleotide variant | Inborn genetic diseases [RCV002762126] | Chr6:35806008 [GRCh38] Chr6:35773785 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.59G>A (p.Arg20Gln) | single nucleotide variant | Inborn genetic diseases [RCV002759018]|not provided [RCV003222480] | Chr6:35805729 [GRCh38] Chr6:35773506 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.368C>T (p.Thr123Met) | single nucleotide variant | not provided [RCV002781269] | Chr6:35806038 [GRCh38] Chr6:35773815 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.634A>G (p.Lys212Glu) | single nucleotide variant | Inborn genetic diseases [RCV002853718] | Chr6:35814767 [GRCh38] Chr6:35782544 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.487G>A (p.Glu163Lys) | single nucleotide variant | Inborn genetic diseases [RCV002809477] | Chr6:35814620 [GRCh38] Chr6:35782397 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.37A>G (p.Ile13Val) | single nucleotide variant | not provided [RCV002811012] | Chr6:35805707 [GRCh38] Chr6:35773484 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.649+13C>T | single nucleotide variant | not provided [RCV002577968] | Chr6:35814795 [GRCh38] Chr6:35782572 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.154G>A (p.Asp52Asn) | single nucleotide variant | Inborn genetic diseases [RCV002718937] | Chr6:35805824 [GRCh38] Chr6:35773601 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.475C>G (p.Arg159Gly) | single nucleotide variant | not provided [RCV002942176] | Chr6:35814608 [GRCh38] Chr6:35782385 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NC_000006.11:g.(?_32148920)_(36953949_?)dup | duplication | not provided [RCV003154914] | Chr6:32148920..36953949 [GRCh37] Chr6:6p21.32-21.2 |
uncertain significance |
NM_182548.4(LHFPL5):c.454T>G (p.Trp152Gly) | single nucleotide variant | Inborn genetic diseases [RCV003217355] | Chr6:35814587 [GRCh38] Chr6:35782364 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.397A>G (p.Met133Val) | single nucleotide variant | not provided [RCV003325080] | Chr6:35806067 [GRCh38] Chr6:35773844 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.586G>T (p.Ala196Ser) | single nucleotide variant | Inborn genetic diseases [RCV003308750] | Chr6:35814719 [GRCh38] Chr6:35782496 [GRCh37] Chr6:6p21.31 |
uncertain significance |
GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1 | copy number loss | not provided [RCV003485510] | Chr6:35562152..42003452 [GRCh37] Chr6:6p21.31-21.1 |
pathogenic |
NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV003486136] | Chr6:35806018 [GRCh38] Chr6:35773795 [GRCh37] Chr6:6p21.31 |
uncertain significance |
NM_182548.4(LHFPL5):c.522C>T (p.Thr174=) | single nucleotide variant | not provided [RCV003724428] | Chr6:35814655 [GRCh38] Chr6:35782432 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.650-11C>T | single nucleotide variant | not provided [RCV003824148] | Chr6:35819426 [GRCh38] Chr6:35787203 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.45T>C (p.His15=) | single nucleotide variant | not provided [RCV003821173] | Chr6:35805715 [GRCh38] Chr6:35773492 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu) | single nucleotide variant | Autosomal recessive nonsyndromic hearing loss 67 [RCV003988903] | Chr6:35814660 [GRCh38] Chr6:35782437 [GRCh37] |
uncertain significance |
NM_182548.4(LHFPL5):c.144C>T (p.Tyr48=) | single nucleotide variant | LHFPL5-related condition [RCV003971418] | Chr6:35805814 [GRCh38] Chr6:35773591 [GRCh37] Chr6:6p21.31 |
likely benign |
NM_182548.4(LHFPL5):c.446C>T (p.Pro149Leu) | single nucleotide variant | LHFPL5-related condition [RCV003956936] | Chr6:35814579 [GRCh38] Chr6:35782356 [GRCh37] Chr6:6p21.31 |
uncertain significance |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | sensory system | adipose tissue | appendage | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 1 | 9 | ||||||||||||||
Low | 76 | 3 | 272 | 19 | 83 | 23 | 163 | 19 | 1488 | 65 | 119 | 170 | 6 | 1 | 2 | 1 |
Below cutoff | 1519 | 820 | 568 | 264 | 721 | 176 | 1355 | 829 | 1514 | 221 | 768 | 560 | 92 | 383 | 834 | 3 |
RefSeq Transcripts | NG_012184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_182548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AK126841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AL157823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC028630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000360215 ⟹ ENSP00000353346 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000496656 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000651132 ⟹ ENSP00000498322 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000651676 ⟹ ENSP00000498699 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000651994 ⟹ ENSP00000498310 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000652718 ⟹ ENSP00000498866 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_182548 ⟹ NP_872354 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_872354 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAH28630 | (Get FASTA) | NCBI Sequence Viewer |
BAG54378 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03852 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000353346 | ||
ENSP00000353346.1 | |||
ENSP00000498310.1 | |||
ENSP00000498322.1 | |||
ENSP00000498699.1 | |||
ENSP00000498866.1 | |||
GenBank Protein | Q8TAF8 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_872354 ⟸ NM_182548 |
- UniProtKB: | B3KX66 (UniProtKB/Swiss-Prot), Q8TAF8 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000353346 ⟸ ENST00000360215 |
RefSeq Acc Id: | ENSP00000498699 ⟸ ENST00000651676 |
RefSeq Acc Id: | ENSP00000498310 ⟸ ENST00000651994 |
RefSeq Acc Id: | ENSP00000498322 ⟸ ENST00000651132 |
RefSeq Acc Id: | ENSP00000498866 ⟸ ENST00000652718 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q8TAF8-F1-model_v2 | AlphaFold | Q8TAF8 | 1-219 | view protein structure |
RGD ID: | 6872986 | ||||||||
Promoter ID: | EPDNEW_H9658 | ||||||||
Type: | initiation region | ||||||||
Name: | LHFPL5_1 | ||||||||
Description: | lipoma HMGIC fusion partner-like 5 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:21253 | AgrOrtholog |
COSMIC | LHFPL5 | COSMIC |
Ensembl Genes | ENSG00000197753 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000360215 | ENTREZGENE |
ENST00000360215.3 | UniProtKB/Swiss-Prot | |
ENST00000651132.1 | UniProtKB/Swiss-Prot | |
ENST00000651676.1 | UniProtKB/Swiss-Prot | |
ENST00000651994.1 | UniProtKB/TrEMBL | |
ENST00000652718.1 | UniProtKB/TrEMBL | |
GTEx | ENSG00000197753 | GTEx |
HGNC ID | HGNC:21253 | ENTREZGENE |
Human Proteome Map | LHFPL5 | Human Proteome Map |
InterPro | LHFPL | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:222662 | UniProtKB/Swiss-Prot |
NCBI Gene | 222662 | ENTREZGENE |
OMIM | 609427 | OMIM |
PANTHER | LHFPL TETRASPAN SUBFAMILY MEMBER 5 PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12489 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | L_HMGIC_fpl | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA134943389 | PharmGKB |
UniProt | A0A494BZZ7_HUMAN | UniProtKB/TrEMBL |
A0A494C136_HUMAN | UniProtKB/TrEMBL | |
B3KX66 | ENTREZGENE | |
LHPL5_HUMAN | UniProtKB/Swiss-Prot, ENTREZGENE | |
UniProt Secondary | B3KX66 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2017-06-27 | LHFPL5 | LHFPL tetraspan subfamily member 5 | LHFPL5 | lipoma HMGIC fusion partner-like 5 | Symbol and/or name change | 5135510 | APPROVED |