ClinVar for MedGen (Select 343997) - ClinVar

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

Links from MedGen

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1185612	NM_182548.4(LHFPL5):c.462_472dup (p.Arg158fs)	LHFPL5 (R158fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic
Select item 907966	NM_182548.4(LHFPL5):c.*447C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GLikely benign
Select item 907965	NM_182548.4(LHFPL5):c.*443C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 907964	NM_182548.4(LHFPL5):c.*433C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 907963	NM_182548.4(LHFPL5):c.*431C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 907962	NM_182548.4(LHFPL5):c.*429C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 907961	NM_182548.4(LHFPL5):c.*427C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 907960	NM_182548.4(LHFPL5):c.*425C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 906986	NM_182548.4(LHFPL5):c.*421T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 906985	NM_182548.4(LHFPL5):c.*417T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 906984	NM_182548.4(LHFPL5):c.*386A>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 906983	NM_182548.4(LHFPL5):c.*241G>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905961	NM_182548.4(LHFPL5):c.*609G>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905960	NM_182548.4(LHFPL5):c.*516T>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905959	NM_182548.4(LHFPL5):c.*510A>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905448	NM_182548.4(LHFPL5):c.*508A>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905447	NM_182548.4(LHFPL5):c.*506A>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905446	NM_182548.4(LHFPL5):c.*501C>G	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905445	NM_182548.4(LHFPL5):c.*489C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 905444	NM_182548.4(LHFPL5):c.*487C>T	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
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 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 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 904654	NM_182548.4(LHFPL5):c.*479T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 904653	NM_182548.4(LHFPL5):c.*461T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	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 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 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 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 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 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 356554	NM_182548.4(LHFPL5):c.*1035C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356553	NM_182548.4(LHFPL5):c.*1010G>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356551	NM_182548.4(LHFPL5):c.*827G>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356550	NM_182548.4(LHFPL5):c.*803A>G	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356549	NM_182548.4(LHFPL5):c.*790A>G	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356548	NM_182548.4(LHFPL5):c.*779G>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356547	NM_182548.4(LHFPL5):c.*778C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356545	NM_182548.4(LHFPL5):c.*560G>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GBenign
Select item 356543	NM_182548.4(LHFPL5):c.*514T>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356541	NM_182548.4(LHFPL5):c.*512A>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GBenign
Select item 356525	NM_182548.4(LHFPL5):c.*485C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GLikely benign
Select item 356521	NM_182548.4(LHFPL5):c.*483T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GBenign
Select item 356520	NM_182548.4(LHFPL5):c.*481T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GLikely benign
Select item 356518	NM_182548.4(LHFPL5):c.*477T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356515	NM_182548.4(LHFPL5):c.*475C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356513	NM_182548.4(LHFPL5):c.*465T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356509	NM_182548.4(LHFPL5):c.*459C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356507	NM_182548.4(LHFPL5):c.*457C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356506	NM_182548.4(LHFPL5):c.*449C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356502	NM_182548.4(LHFPL5):c.*423T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GBenign
Select item 356499	NM_182548.4(LHFPL5):c.*419T>C	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356497	NM_182548.4(LHFPL5):c.*385C>T	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
Select item 356496	NM_182548.4(LHFPL5):c.*345G>A	LHFPL5	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 67	GBenign
Select item 356495	NM_182548.4(LHFPL5):c.*231G>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 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 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 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 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 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 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 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 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 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 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 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 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 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 356479	NM_182548.3(LHFPL5):c.-335A>G	LHFPL5, LOC129996260	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 67	GUncertain significance
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 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 1697	NM_182548.4(LHFPL5):c.494C>T (p.Thr165Met)	LHFPL5 (T165M)	Single nucleotide variant (missense variant)	LHFPL5-related disorder	GUncertain significance
Select item 1696	NM_182548.4(LHFPL5):c.649+1del	LHFPL5	Deletion (splice donor variant)	Ear malformation	GLikely pathogenic
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 1694	NM_182548.4(LHFPL5):c.250del (p.Pro83_Leu84insTer)	LHFPL5	Deletion (nonsense)	Autosomal recessive nonsyndromic hearing loss 67	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 80