ClinVar for MedGen (Select 167109) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 282

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1191489	NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg)	LIFR (P972R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1185228	NM_001127671.2(LIFR):c.143-39C>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185227	NM_001127671.2(LIFR):c.397+29A>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185226	NM_001127671.2(LIFR):c.561+216A>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185225	NM_001127671.2(LIFR):c.1292-80T>A	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185224	NM_001127671.2(LIFR):c.2167+21T>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167476	NM_001127671.2(LIFR):c.143-5_143-3del	LIFR	Microsatellite (intron variant)	not provided	GBenign/Likely benign
Select item 1164570	NM_001127671.2(LIFR):c.143-37GT[16]	LIFR	Microsatellite (intron variant)	Connective tissue disorder +2 more	GBenign
Select item 1164272	NM_001127671.2(LIFR):c.774T>C (p.Asp258=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1071419	NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)	LIFR (R418*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1067405	NM_001127671.2(LIFR):c.2168-1G>A	LIFR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1062325	NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys)	LIFR (E391K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1055784	NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr)	LIFR (A952T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046924	NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val)	LIFR (L569V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029587	NM_001127671.2(LIFR):c.737G>T (p.Trp246Leu)	LIFR (W246L)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 996061	NM_001127671.2(LIFR):c.808T>G (p.Cys270Gly)	LIFR (C270G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990387	NM_001127671.2(LIFR):c.183A>C (p.Gln61His)	LIFR (Q61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990386	NM_001127671.2(LIFR):c.231T>C (p.Thr77=)	LIFR	Single nucleotide variant (synonymous variant)	Stüve-Wiedemann syndrome 1	GUncertain significance
Select item 990385	NM_001127671.2(LIFR):c.2591+6A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 990384	NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val)	LIFR (A870V +1 more)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 944487	NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)	LIFR (R812*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 907510	NM_001127671.2(LIFR):c.-19G>C	LIFR	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907509	NM_001127671.2(LIFR):c.9T>G (p.Asp3Glu)	LIFR (D3E)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907448	NM_001127671.2(LIFR):c.2001G>A (p.Ser667=)	LIFR	Single nucleotide variant (synonymous variant)	Stuve-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 907447	NM_001127671.2(LIFR):c.2051C>G (p.Thr684Ser)	LIFR (T684S)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907446	NM_001127671.2(LIFR):c.2063C>G (p.Ser688Cys)	LIFR (S688C)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907396	NM_001127671.2(LIFR):c.*9C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907395	NM_001127671.2(LIFR):c.*10C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907394	NM_001127671.2(LIFR):c.*212T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907393	NM_001127671.2(LIFR):c.*320C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 907332	NM_001127671.2(LIFR):c.*1474T>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 907269	NM_001127671.2(LIFR):c.*3074A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907268	NM_001127671.2(LIFR):c.*3085G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907267	NM_001127671.2(LIFR):c.*3162T>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907266	NM_001127671.2(LIFR):c.*3163T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907265	NM_001127671.2(LIFR):c.*3182G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907204	NM_001127671.2(LIFR):c.*4799A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907203	NM_001127671.2(LIFR):c.*4841G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907202	NM_001127671.2(LIFR):c.*5004A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907201	NM_001127671.2(LIFR):c.*5060T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 907139	NM_001127671.2(LIFR):c.*6386A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907138	NM_001127671.2(LIFR):c.*6395T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 907137	NM_001127671.2(LIFR):c.*6483C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 907136	NM_001127671.2(LIFR):c.*6491A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906502	NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)	LIFR (R86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 906501	NM_001127671.2(LIFR):c.562-12G>A	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 906454	NM_001127671.2(LIFR):c.2401C>G (p.Leu801Val)	LIFR (L801V)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906453	NM_001127671.2(LIFR):c.2497+14T>G	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome +1 more	GBenign/Likely benign
Select item 906390	NM_001127671.2(LIFR):c.*398C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 906389	NM_001127671.2(LIFR):c.*415A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906388	NM_001127671.2(LIFR):c.*426G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 906387	NM_001127671.2(LIFR):c.*443C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906386	NM_001127671.2(LIFR):c.*517T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906326	NM_001127671.2(LIFR):c.*1643G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906325	NM_001127671.2(LIFR):c.*1779A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906324	NM_001127671.2(LIFR):c.*1840C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 906270	NM_001127671.2(LIFR):c.*3330C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome +1 more	GBenign
Select item 906269	NM_001127671.2(LIFR):c.*3449G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906268	NM_001127671.2(LIFR):c.*3470G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906267	NM_001127671.2(LIFR):c.*3563T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906266	NM_001127671.2(LIFR):c.*3753G>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906211	NM_001127671.2(LIFR):c.*5107A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906210	NM_001127671.2(LIFR):c.*5206A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906209	NM_001127671.2(LIFR):c.*5421A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905875	NM_001127671.2(LIFR):c.*657C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905874	NM_001127671.2(LIFR):c.*933G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905873	NM_001127671.2(LIFR):c.*972C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905817	NM_001127671.2(LIFR):c.*1952A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905816	NM_001127671.2(LIFR):c.*1968A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905815	NM_001127671.2(LIFR):c.*1972C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905814	NM_001127671.2(LIFR):c.*2360A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905813	NM_001127671.2(LIFR):c.*2437A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905756	NM_001127671.2(LIFR):c.*3852C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905755	NM_001127671.2(LIFR):c.*4020T>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 905754	NM_001127671.2(LIFR):c.*4154A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 905686	NM_001127671.2(LIFR):c.*5925C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904905	NM_001127671.2(LIFR):c.991+10T>C	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904904	NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn)	LIFR (K378N)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 904903	NM_001127671.2(LIFR):c.1194A>G (p.Gln398=)	LIFR	Single nucleotide variant (synonymous variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904902	NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)	LIFR	Single nucleotide variant (synonymous variant)	Stuve-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 904901	NM_001127671.2(LIFR):c.1267A>G (p.Ile423Val)	LIFR (I423V)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 904900	NM_001127671.2(LIFR):c.1424C>T (p.Ser475Leu)	LIFR (S475L)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 904838	NM_001127671.2(LIFR):c.2692T>C (p.Leu898=)	LIFR	Single nucleotide variant (synonymous variant)	Stuve-Wiedemann syndrome +1 more	GConflicting classifications of pathogenicity
Select item 904837	NM_001127671.2(LIFR):c.2737A>G (p.Thr913Ala)	LIFR (T902A +1 more)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904129	NM_001127671.2(LIFR):c.1439G>A (p.Arg480Gln)	LIFR (R480Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904128	NM_001127671.2(LIFR):c.1522C>T (p.Arg508Trp)	LIFR (R508W)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904127	NM_001127671.2(LIFR):c.1560C>T (p.Ser520=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 904126	NM_001127671.2(LIFR):c.1789C>G (p.Arg597Gly)	LIFR (R597G)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 904125	NM_001127671.2(LIFR):c.1790G>A (p.Arg597Gln)	LIFR (R597Q)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903997	NM_001127671.2(LIFR):c.*1086A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903996	NM_001127671.2(LIFR):c.*1291G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903929	NM_001127671.2(LIFR):c.*2570G>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 903928	NM_001127671.2(LIFR):c.*2585T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903927	NM_001127671.2(LIFR):c.*2611C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903926	NM_001127671.2(LIFR):c.*2746T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903925	NM_001127671.2(LIFR):c.*2825G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903859	NM_001127671.2(LIFR):c.*4346G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903858	NM_001127671.2(LIFR):c.*4735C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903785	NM_001127671.2(LIFR):c.*6226A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903784	NM_001127671.2(LIFR):c.*6248C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance

<< First< Prev

Page of 3