222662[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 190

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 1265161	NC_000006.12:g.35804978G>A	LHFPL5	Single nucleotide variant	not provided	GBenign
Select item 356478	NM_182548.3(LHFPL5):c.-337G>T	LHFPL5, LOC129996260	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356479	NM_182548.3(LHFPL5):c.-335A>G	LHFPL5, LOC129996260	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356480	NM_182548.4(LHFPL5):c.-305G>A	LHFPL5, LOC129996260	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356481	NM_182548.4(LHFPL5):c.-298AG[1]	LHFPL5, LOC129996260	Microsatellite (5 prime UTR variant)	Nonsyndromic Hearing Loss, Recessive +1 more	GBenign/Likely benign
Select item 356482	NM_182548.4(LHFPL5):c.-161A>G	LHFPL5	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356483	NM_182548.4(LHFPL5):c.-132A>G	LHFPL5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356484	NM_182548.4(LHFPL5):c.-128C>T	LHFPL5	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 356485	NM_182548.4(LHFPL5):c.-93C>T	LHFPL5	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356486	NM_182548.4(LHFPL5):c.-63C>G	LHFPL5	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356487	NM_182548.4(LHFPL5):c.-30G>C	LHFPL5	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 402282	NM_182548.4(LHFPL5):c.1A>G (p.Met1Val)	LHFPL5 (M1V)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 67	GLikely pathogenic
Select item 2001201	NM_182548.4(LHFPL5):c.37A>G (p.Ile13Val)	LHFPL5 (I13V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228800	NM_182548.4(LHFPL5):c.43C>T (p.His15Tyr)	LHFPL5 (H15Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2968047	NM_182548.4(LHFPL5):c.45T>C (p.His15=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401879	NM_182548.4(LHFPL5):c.59G>A (p.Arg20Gln)	LHFPL5 (R20Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3075973	NM_182548.4(LHFPL5):c.73G>T (p.Val25Leu)	LHFPL5 (V25L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 904587	NM_182548.4(LHFPL5):c.82A>T (p.Met28Leu)	LHFPL5 (M28L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 667378	NM_182548.4(LHFPL5):c.89dup (p.Thr31fs)	LHFPL5 (T31fs)	Duplication (frameshift variant)	Rare genetic deafness	GLikely pathogenic
Select item 1305696	NM_182548.4(LHFPL5):c.97A>C (p.Thr33Pro)	LHFPL5 (T33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068575	NM_182548.4(LHFPL5):c.139C>A (p.Pro47Thr)	LHFPL5 (P47T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance
Select item 356488	NM_182548.4(LHFPL5):c.140C>A (p.Pro47His)	LHFPL5 (P47H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 3052657	NM_182548.4(LHFPL5):c.144C>T (p.Tyr48=)	LHFPL5	Single nucleotide variant (synonymous variant)	LHFPL5-related condition	GLikely benign
Select item 1462493	NM_182548.4(LHFPL5):c.153C>T (p.Gly51=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2236945	NM_182548.4(LHFPL5):c.154G>A (p.Asp52Asn)	LHFPL5 (D52N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1429467	NM_182548.4(LHFPL5):c.169C>T (p.Pro57Ser)	LHFPL5 (P57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 228799	NM_182548.4(LHFPL5):c.176C>A (p.Ala59Glu)	LHFPL5 (A59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1398793	NM_182548.4(LHFPL5):c.187G>A (p.Gly63Ser)	LHFPL5 (G63S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 356489	NM_182548.4(LHFPL5):c.206T>C (p.Val69Ala)	LHFPL5 (V69A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 163856	NM_182548.4(LHFPL5):c.214G>A (p.Val72Met)	LHFPL5 (V72M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1694	NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	LHFPL5	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 1711626	NM_182548.4(LHFPL5):c.248C>T (p.Pro83Leu)	LHFPL5 (P83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801115	NM_182548.4(LHFPL5):c.314T>C (p.Met105Thr)	LHFPL5 (M105T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504607	NM_182548.4(LHFPL5):c.321C>T (p.Leu107=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 587422	NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met)	LHFPL5 (I109M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 727798	NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr)	LHFPL5 (I112T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2237893	NM_182548.4(LHFPL5):c.338T>C (p.Ile113Thr)	LHFPL5 (I113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689369	NM_182548.4(LHFPL5):c.348C>G (p.Ser116Arg)	LHFPL5 (S116R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356490	NM_182548.4(LHFPL5):c.366C>T (p.Asn122=)	LHFPL5	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 1988375	NM_182548.4(LHFPL5):c.368C>T (p.Thr123Met)	LHFPL5 (T123M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 356491	NM_182548.4(LHFPL5):c.372C>T (p.Ala124=)	LHFPL5	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 1695	NM_182548.4(LHFPL5):c.380A>G (p.Tyr127Cys)	LHFPL5 (Y127C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 1331317	NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter)	LHFPL5 (W132*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2577743	NM_182548.4(LHFPL5):c.397A>G (p.Met133Val)	LHFPL5 (M133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 905375	NM_182548.4(LHFPL5):c.411G>T (p.Ala137=)	LHFPL5	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 227500	NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1193766	NM_182548.4(LHFPL5):c.412+21G>A	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212284	NM_182548.4(LHFPL5):c.412+41G>A	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217707	NM_182548.4(LHFPL5):c.413-37C>T	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1503656	NM_182548.4(LHFPL5):c.430G>A (p.Gly144Ser)	LHFPL5 (G144S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050800	NM_182548.4(LHFPL5):c.446C>T (p.Pro149Leu)	LHFPL5 (P149L)	Single nucleotide variant (missense variant)	LHFPL5-related condition	GUncertain significance
Select item 562086	NM_182548.4(LHFPL5):c.452G>T (p.Gly151Val)	LHFPL5 (G151V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67 +1 more	GPathogenic/Likely pathogenic
Select item 724132	NM_182548.4(LHFPL5):c.453T>C (p.Gly151=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2488237	NM_182548.4(LHFPL5):c.454T>G (p.Trp152Gly)	LHFPL5 (W152G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1352050	NM_182548.4(LHFPL5):c.460T>A (p.Ser154Thr)	LHFPL5 (S154T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185612	NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)	LHFPL5 (R158fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 505548	NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp)	LHFPL5 (R158W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1393163	NM_182548.4(LHFPL5):c.473G>A (p.Arg158Gln)	LHFPL5 (R158Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262996	NM_182548.4(LHFPL5):c.474G>A (p.Arg158=)	LHFPL5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2058139	NM_182548.4(LHFPL5):c.475C>G (p.Arg159Gly)	LHFPL5 (R159G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 228801	NM_182548.4(LHFPL5):c.475C>T (p.Arg159Cys)	LHFPL5 (R159C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 163857	NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)	LHFPL5 (R159H)	Single nucleotide variant (missense variant)	LHFPL5-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2270463	NM_182548.4(LHFPL5):c.487G>A (p.Glu163Lys)	LHFPL5 (E163K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577744	NM_182548.4(LHFPL5):c.490C>T (p.Gln164Ter)	LHFPL5 (Q164*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1697	NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	LHFPL5 (T165M)	Single nucleotide variant (missense variant)	LHFPL5-related condition	GUncertain significance
Select item 1064882	NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter)	LHFPL5 (Y168*)	Single nucleotide variant (nonsense)	Hearing impairment	GLikely pathogenic
Select item 356492	NM_182548.4(LHFPL5):c.506C>T (p.Thr169Met)	LHFPL5 (T169M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1204094	NM_182548.4(LHFPL5):c.507G>A (p.Thr169=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1465628	NM_182548.4(LHFPL5):c.511G>A (p.Gly171Ser)	LHFPL5 (G171S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884528	NM_182548.4(LHFPL5):c.522C>T (p.Thr174=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227501	NM_182548.4(LHFPL5):c.525C>A (p.Ile175=)	LHFPL5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3064363	NM_182548.4(LHFPL5):c.527G>T (p.Arg176Leu)	LHFPL5 (R176L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905376	NM_182548.4(LHFPL5):c.527G>A (p.Arg176His)	LHFPL5 (R176H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 1502436	NM_182548.4(LHFPL5):c.556A>G (p.Ile186Val)	LHFPL5 (I186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872550	NM_182548.4(LHFPL5):c.562G>A (p.Asp188Asn)	LHFPL5 (D188N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 375705	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	LHFPL5 (L192P)	Single nucleotide variant (missense variant)	Autosomal recessive non-syndromic intellectual disability +1 more	GPathogenic
Select item 2554671	NM_182548.4(LHFPL5):c.586G>T (p.Ala196Ser)	LHFPL5 (A196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1065100	NM_182548.4(LHFPL5):c.592G>A (p.Val198Met)	LHFPL5 (V198M)	Single nucleotide variant (missense variant)	Hearing impairment +1 more	GUncertain significance
Select item 1427668	NM_182548.4(LHFPL5):c.605G>A (p.Arg202Gln)	LHFPL5 (R202Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163858	NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn)	LHFPL5 (K205N)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1300970	NM_182548.4(LHFPL5):c.627C>T (p.Asp209=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283435	NM_182548.4(LHFPL5):c.634A>G (p.Lys212Glu)	LHFPL5 (K212E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 163859	NM_182548.4(LHFPL5):c.638C>A (p.Ala213Glu)	LHFPL5 (A213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 506259	NM_182548.4(LHFPL5):c.648C>T (p.Thr216=)	LHFPL5	Single nucleotide variant (synonymous variant)	not specified +1 more	GUncertain significance
Select item 1696	NM_182548.4(LHFPL5):c.649+1del	LHFPL5	Deletion (splice donor variant)	Ear malformation	GLikely pathogenic
Select item 1466193	NM_182548.4(LHFPL5):c.649+6C>A	LHFPL5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1907088	NM_182548.4(LHFPL5):c.649+13C>T	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963709	NM_182548.4(LHFPL5):c.649+17A>G	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222703	NM_182548.4(LHFPL5):c.650-315T>G	LHFPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967470	NM_182548.4(LHFPL5):c.650-11C>T	LHFPL5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 905377	NM_182548.4(LHFPL5):c.650A>G (p.Glu217Gly)	LHFPL5 (E217G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 1334122	NM_182548.4(LHFPL5):c.*16+1G>A	LHFPL5	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 1254434	NM_182548.4(LHFPL5):c.*16+177C>T	LHFPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290462	NM_182548.4(LHFPL5):c.*16+231dup	LHFPL5	Duplication (intron variant)	not provided	GBenign
Select item 1250164	NM_182548.4(LHFPL5):c.*16+231del	LHFPL5	Deletion (intron variant)	not provided	GBenign
Select item 1264175	NM_182548.4(LHFPL5):c.*16+259A>G	LHFPL5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 356493	NM_182548.4(LHFPL5):c.*169G>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356494	NM_182548.4(LHFPL5):c.*170A>G	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905378	NM_182548.4(LHFPL5):c.*199A>G	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance

<< First< Prev

Page of 2