LIFR-AS1[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +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	ACTBL2, ANKRD55 +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 150070	GRCh38/hg38 5p13.1(chr5:38542122-38760928)x3	LIFR, LIFR-AS1 +4 more	Copy number gain	See cases	GLikely benign
Select item 439860	NM_002310.6(LIFR):c.-20+294A>T	LIFR-AS1, LIFR	Single nucleotide variant (non-coding transcript variant +1 more)	Stuve-Wiedemann syndrome	GBenign
Select item 353639	NM_002310.6(LIFR):c.-28G>A	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353640	NM_002310.6(LIFR):c.-90T>C	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353641	NM_002310.6(LIFR):c.-118G>A	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353642	NM_002310.6(LIFR):c.-129T>G	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance
Select item 353643	NM_002310.6(LIFR):c.-139G>A	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance