LIFR[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 151668	GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3	EGFLAM, EGFLAM-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 369474	NM_001127671.2(LIFR):c.*6640dup	LIFR	Duplication (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 353521	NM_001127671.2(LIFR):c.*6564C>T	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 907137	NM_001127671.2(LIFR):c.*6483C>A	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 907139	NM_001127671.2(LIFR):c.*6386A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 903783	NM_001127671.2(LIFR):c.*6380G>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353522	NM_001127671.2(LIFR):c.*6316C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 903784	NM_001127671.2(LIFR):c.*6248C>G	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 353523	NM_001127671.2(LIFR):c.*6190C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353524	NM_001127671.2(LIFR):c.*6140C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353525	NM_001127671.2(LIFR):c.*6100G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353526	NM_001127671.2(LIFR):c.6041_6042insTTA	LIFR	Insertion (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353527	NM_001127671.2(LIFR):c.*5986T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
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 353528	NM_001127671.2(LIFR):c.*5796A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353529	NM_001127671.2(LIFR):c.*5793C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353530	NM_001127671.2(LIFR):c.*5768A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353531	NM_001127671.2(LIFR):c.*5670A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353532	NM_001127671.2(LIFR):c.*5667T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353533	NM_001127671.2(LIFR):c.*5634T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353534	NM_001127671.2(LIFR):c.*5542G>A	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 353535	NM_001127671.2(LIFR):c.*5356A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353536	NM_001127671.2(LIFR):c.*5225C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
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 353537	NM_001127671.2(LIFR):c.*5184G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353538	NM_001127671.2(LIFR):c.*5169T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353539	NM_001127671.2(LIFR):c.*5125C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
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 353540	NM_001127671.2(LIFR):c.*5072dup	LIFR	Duplication (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 907201	NM_001127671.2(LIFR):c.*5060T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353541	NM_001127671.2(LIFR):c.*5017A>G	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 353543	NM_001127671.2(LIFR):c.4926_4927del	LIFR	Deletion (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353542	NM_001127671.2(LIFR):c.*4927del	LIFR	Deletion (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353544	NM_001127671.2(LIFR):c.*4854A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
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 353545	NM_001127671.2(LIFR):c.*4804C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353546	NM_001127671.2(LIFR):c.*4801A>G	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 903858	NM_001127671.2(LIFR):c.*4735C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353547	NM_001127671.2(LIFR):c.*4618T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353548	NM_001127671.2(LIFR):c.*4438A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353549	NM_001127671.2(LIFR):c.*4428T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353550	NM_001127671.2(LIFR):c.*4417A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353551	NM_001127671.2(LIFR):c.*4414G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353552	NM_001127671.2(LIFR):c.*4405G>C	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 353553	NM_001127671.2(LIFR):c.*4264T>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353554	NM_001127671.2(LIFR):c.*4243A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
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 353555	NM_001127671.2(LIFR):c.*4056G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353556	NM_001127671.2(LIFR):c.*4024G>A	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 905756	NM_001127671.2(LIFR):c.*3852C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353557	NM_001127671.2(LIFR):c.*3851T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 353558	NM_001127671.2(LIFR):c.*3850T>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353559	NM_001127671.2(LIFR):c.*3834C>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
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 353560	NM_001127671.2(LIFR):c.*3748T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353561	NM_001127671.2(LIFR):c.3639_3640del	LIFR	Deletion (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
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 906268	NM_001127671.2(LIFR):c.*3470G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
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 353562	NM_001127671.2(LIFR):c.*3375A>G	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 906270	NM_001127671.2(LIFR):c.*3330C>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GBenign
Select item 353564	NM_001127671.2(LIFR):c.*3302T>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353563	NM_001127671.2(LIFR):c.*3302T>G	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 907266	NM_001127671.2(LIFR):c.*3163T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353565	NM_001127671.2(LIFR):c.*3163T>C	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 907268	NM_001127671.2(LIFR):c.*3085G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
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 353566	NM_001127671.2(LIFR):c.*2981TATTT[1]	LIFR	Microsatellite (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353567	NM_001127671.2(LIFR):c.*2910G>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 903926	NM_001127671.2(LIFR):c.*2746T>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353568	NM_001127671.2(LIFR):c.*2712C>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 353569	NM_001127671.2(LIFR):c.*2697A>G	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 903928	NM_001127671.2(LIFR):c.*2585T>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 353570	NM_001127671.2(LIFR):c.*2567G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GLikely benign
Select item 353571	NM_001127671.2(LIFR):c.*2476G>T	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353572	NM_001127671.2(LIFR):c.*2464C>G	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 905814	NM_001127671.2(LIFR):c.*2360A>C	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353573	NM_001127671.2(LIFR):c.*2138dup	LIFR	Duplication (3 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance

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