Related gene-specific medical variations for Gene (Select 3977) - ClinVar - NCBI

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Links from Gene

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064186	NM_001127671.2(LIFR):c.194G>C (p.Cys65Ser)	LIFR (C65S)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1	GLikely benign
Select item 2690057	NM_001127671.2(LIFR):c.2034del (p.Ser679fs)	LIFR (S679fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GPathogenic
Select item 2437222	NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)	LIFR (S824fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GPathogenic
Select item 1679480	NM_001127671.2(LIFR):c.2807G>A (p.Arg936His)	LIFR (R925H +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1	GUncertain significance
Select item 1324664	NM_001127671.2(LIFR):c.210del (p.Ser71fs)	LIFR (S71fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GLikely pathogenic
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 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 978556	NM_001127671.2(LIFR):c.1886-9T>A	LIFR	Single nucleotide variant (intron variant)	Absent speech +5 more	GUncertain significance
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 353643	NM_002310.6(LIFR):c.-139G>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 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 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 353639	NM_002310.6(LIFR):c.-28G>A	LIFR, LIFR-AS1	Single nucleotide variant (5 prime UTR variant)	Stuve-Wiedemann syndrome	GUncertain significance