"GeneDx"[submitter] AND "LHFPL5"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1265161	NC_000006.12:g.35804978G>A	LHFPL5	Single nucleotide variant	not provided	GBenign
Select item 356481	NM_182548.4(LHFPL5):c.-298AG[1]	LHFPL5, LOC129996260	Microsatellite (5 prime UTR variant)	Hearing loss, autosomal recessive +1 more	GBenign/Likely benign
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 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 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 1305696	NM_182548.4(LHFPL5):c.97A>C (p.Thr33Pro)	LHFPL5 (T33P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429467	NM_182548.4(LHFPL5):c.169C>T (p.Pro57Ser)	LHFPL5 (P57S)	Single nucleotide variant (missense variant)	not provided +1 more	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 3253326	NM_182548.4(LHFPL5):c.266_274dup (p.Ser91_Arg92insIleProSer)	LHFPL5	Duplication (inframe_insertion)	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 specified +1 more	GLikely benign
Select item 727798	NM_182548.4(LHFPL5):c.335T>C (p.Ile112Thr)	LHFPL5 (I112T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 67 +1 more	GConflicting classifications of pathogenicity
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 1331317	NM_182548.4(LHFPL5):c.395G>A (p.Trp132Ter)	LHFPL5 (W132*)	Single nucleotide variant (nonsense)	LHFPL5-related disorder +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 3368145	NM_182548.4(LHFPL5):c.410C>T (p.Ala137Val)	LHFPL5 (A137V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 227500	NM_182548.4(LHFPL5):c.411G>A (p.Ala137=)	LHFPL5	Single nucleotide variant (synonymous variant)	not provided +1 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 163857	NM_182548.4(LHFPL5):c.476G>A (p.Arg159His)	LHFPL5 (R159H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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)	not provided	GUncertain significance
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	GLikely benign
Select item 163858	NM_182548.4(LHFPL5):c.615G>C (p.Lys205Asn)	LHFPL5 (K205N)	Single nucleotide variant (missense variant)	not provided +1 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 1222703	NM_182548.4(LHFPL5):c.650-315T>G	LHFPL5	Single nucleotide variant (intron variant)	not provided	GBenign
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 3360729	NM_182548.4(LHFPL5):c.413C>T (p.Ala138Val)	LHFPL5 (A138V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 34