ClinVar for MedGen (Select 1803541) - ClinVar

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Items: 41

	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 2506373	NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)	LIFR (Y379fs)	Microsatellite (frameshift variant)	Stüve-Wiedemann syndrome 1	GLikely pathogenic
Select item 2444108	NM_001127671.2(LIFR):c.703_704del (p.Trp235fs)	LIFR (W235fs)	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 1989500	NM_001127671.2(LIFR):c.33A>G (p.Pro11=)	LIFR	Single nucleotide variant (synonymous variant)	Stüve-Wiedemann syndrome 1 +1 more	GLikely benign
Select item 1694459	NM_001127671.2(LIFR):c.2497+1G>A	LIFR	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1416697	NM_001127671.2(LIFR):c.3245G>A (p.Gly1082Glu)	LIFR (G1071E +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +1 more	GUncertain significance
Select item 1372780	NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter)	LIFR (E109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1343414	NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)	LIFR (Y369fs)	Duplication (frameshift variant)	Stüve-Wiedemann syndrome 1	GLikely pathogenic
Select item 1324664	NM_001127671.2(LIFR):c.210del (p.Ser71fs)	LIFR (S71fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1	GLikely pathogenic
Select item 1212383	NM_001127671.2(LIFR):c.2591+17T>C	LIFR	Single nucleotide variant (intron variant)	Stüve-Wiedemann syndrome 1 +1 more	GBenign/Likely benign
Select item 1191489	NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg)	LIFR (P972R +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +1 more	GUncertain significance
Select item 1164570	NM_001127671.2(LIFR):c.143-37GT[16]	LIFR	Microsatellite (intron variant)	LIFR-related condition +3 more	GBenign
Select item 1080641	NM_001127671.2(LIFR):c.2910A>G (p.Ala970=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1070966	NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)	LIFR (S490*)	Single nucleotide variant (nonsense)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic
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 936674	NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)	LIFR	Deletion (nonsense)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 906502	NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)	LIFR (R86S)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 871488	NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)	LIFR (K253*)	Duplication (nonsense)	not provided +2 more	GPathogenic
Select item 811716	NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala)	LIFR (P136A)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +2 more	GUncertain significance
Select item 811023	NM_001127671.2(LIFR):c.397+17_397+20del	LIFR	Microsatellite (intron variant)	Stüve-Wiedemann syndrome 1 +1 more	GBenign
Select item 763240	NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 656451	NM_001127671.2(LIFR):c.478_479del (p.Arg160fs)	LIFR (R160fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 618702	NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu)	LIFR (S664L)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +2 more	GBenign/Likely benign
Select item 618196	NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)	LIFR (D816G)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +4 more	GBenign/Likely benign
Select item 501917	NM_001127671.2(LIFR):c.452C>G (p.Ser151Cys)	LIFR (S151C)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +1 more	GUncertain significance
Select item 445381	NM_001127671.2(LIFR):c.1886-18C>T	LIFR	Single nucleotide variant (intron variant)	Stüve-Wiedemann syndrome 1 +1 more	GBenign/Likely benign
Select item 353636	NM_001127671.2(LIFR):c.143-37GT[11]	LIFR	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 353634	NM_001127671.2(LIFR):c.143-37GT[13]	LIFR	Microsatellite (intron variant)	Stüve-Wiedemann syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 353616	NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu)	LIFR (K804E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 353614	NM_001127671.2(LIFR):c.2498-7G>A	LIFR	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 353608	NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 353605	NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)	LIFR (N1096K +1 more)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 281444	NM_001127671.2(LIFR):c.653dup (p.Glu219fs)	LIFR (E219fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 280316	NM_001127671.2(LIFR):c.254del (p.Asn85fs)	LIFR (N85fs)	Deletion (frameshift variant)	Stüve-Wiedemann syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 235543	NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)	LIFR (T646N)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 195484	NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)	LIFR	Single nucleotide variant (synonymous variant)	LIFR-related condition +4 more	GBenign/Likely benign
Select item 194624	NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)	LIFR (R768G)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 194373	NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)	LIFR (I633M)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +4 more	GBenign

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Items: 41