"GeneDx"[submitter] AND "LIFR"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 151668	GRCh38/hg38 5p13.1(chr5:38400157-38593979)x3	EGFLAM, EGFLAM-AS1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 353603	NM_001127671.2(LIFR):c.*324G>A	LIFR	Single nucleotide variant (3 prime UTR variant)	Stuve-Wiedemann syndrome +1 more	GBenign/Likely benign
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 +3 more	GConflicting classifications of pathogenicity
Select item 195484	NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)	LIFR	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1708656	NM_001127671.2(LIFR):c.2986G>A (p.Val996Ile)	LIFR (V985I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 353610	NM_001127671.2(LIFR):c.2766T>C (p.Asp922=)	LIFR	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 751432	NM_001127671.2(LIFR):c.2671-10T>G	LIFR	Single nucleotide variant (intron variant)	Connective tissue disorder +2 more	GConflicting classifications of pathogenicity
Select item 1266409	NM_001127671.2(LIFR):c.2671-143_2671-119del	LIFR	Deletion (intron variant)	not provided	GBenign
Select item 1276162	NM_001127671.2(LIFR):c.2671-149_2671-148insTCCG	LIFR	Insertion (intron variant)	not provided	GBenign
Select item 1228585	NM_001127671.2(LIFR):c.2671-150A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221828	NM_001127671.2(LIFR):c.2671-152del	LIFR	Deletion (intron variant)	not provided	GBenign
Select item 1267979	NM_001127671.2(LIFR):c.2671-158_2671-157insTTTT	LIFR	Insertion (intron variant)	not provided	GBenign
Select item 1288130	NM_001127671.2(LIFR):c.2671-162T>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214517	NM_001127671.2(LIFR):c.2671-162T>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226063	NM_001127671.2(LIFR):c.2671-184G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195093	NM_001127671.2(LIFR):c.2592-112G>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204025	NM_001127671.2(LIFR):c.2591+97del	LIFR	Deletion (intron variant)	not provided	GLikely benign
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 353613	NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp)	LIFR (R860W +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GBenign
Select item 353614	NM_001127671.2(LIFR):c.2498-7G>A	LIFR	Single nucleotide variant (intron variant)	Stuve-Wiedemann syndrome +4 more	GBenign/Likely benign
Select item 1279105	NM_001127671.2(LIFR):c.2498-243G>T	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199812	NM_001127671.2(LIFR):c.2497+152C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 618196	NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)	LIFR (D816G)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +3 more	GBenign/Likely benign
Select item 353617	NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile)	LIFR (V785I)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GBenign
Select item 2052395	NM_001127671.2(LIFR):c.2349A>G (p.Ile783Met)	LIFR (I783M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1318726	NM_001127671.2(LIFR):c.2338C>T (p.Arg780Cys)	LIFR (R780C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200477	NM_001127671.2(LIFR):c.2336-163C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194624	NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)	LIFR (R768G)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1185224	NM_001127671.2(LIFR):c.2167+21T>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213331	NM_001127671.2(LIFR):c.2167+5G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 811557	NM_001127671.2(LIFR):c.2066-74T>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1218314	NM_001127671.2(LIFR):c.2066-285G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193923	NM_001127671.2(LIFR):c.2066-348C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227157	NM_001127671.2(LIFR):c.2065+142C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2550875	NM_001127671.2(LIFR):c.1996C>T (p.Arg666Trp)	LIFR (R666W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618702	NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu)	LIFR (S664L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 235543	NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)	LIFR (T646N)	Single nucleotide variant (missense variant)	Stüve-Wiedemann syndrome 1 +4 more	GBenign/Likely benign
Select item 353622	NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu)	LIFR (M639L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 194373	NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)	LIFR (I633M)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +4 more	GBenign
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 1200519	NM_001127671.2(LIFR):c.1886-238A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232636	NM_001127671.2(LIFR):c.1885+222A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 353625	NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn)	LIFR (D578N)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GBenign
Select item 1243586	NM_001127671.2(LIFR):c.1672-82G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233100	NM_001127671.2(LIFR):c.1672-148C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276232	NM_001127671.2(LIFR):c.1672-180C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236702	NM_001127671.2(LIFR):c.1671+261T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175455	NM_001127671.2(LIFR):c.1671+134T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187847	NM_001127671.2(LIFR):c.1601-79C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194464	NM_001127671.2(LIFR):c.1600+249A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199769	NM_001127671.2(LIFR):c.1600+148G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315993	NM_001127671.2(LIFR):c.1517C>T (p.Thr506Ile)	LIFR (T506I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392409	NM_001127671.2(LIFR):c.1516A>C (p.Thr506Pro)	LIFR (T506P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1196784	NM_001127671.2(LIFR):c.1438-63AT[6]	LIFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1287405	NM_001127671.2(LIFR):c.1438-117G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186619	NM_001127671.2(LIFR):c.1438-243C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203488	NM_001127671.2(LIFR):c.1437+247G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185225	NM_001127671.2(LIFR):c.1292-80T>A	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175428	NM_001127671.2(LIFR):c.1291+252A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
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 1218280	NM_001127671.2(LIFR):c.1122-70G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201965	NM_001127671.2(LIFR):c.1122-129T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216305	NM_001127671.2(LIFR):c.1122-209T>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287595	NM_001127671.2(LIFR):c.992-246A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214902	NM_001127671.2(LIFR):c.991+299G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199595	NM_001127671.2(LIFR):c.991+99C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261437	NM_001127671.2(LIFR):c.991+84del	LIFR	Deletion (intron variant)	not provided	GBenign
Select item 811540	NM_001127671.2(LIFR):c.991+80G>T	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1186289	NM_001127671.2(LIFR):c.991+78G>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 281191	NM_001127671.2(LIFR):c.954C>T (p.Thr318=)	LIFR	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 817458	NM_001127671.2(LIFR):c.912_915del (p.Ile304fs)	LIFR (I304fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
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 730894	NM_001127671.2(LIFR):c.789A>G (p.Val263=)	LIFR	Single nucleotide variant (synonymous variant)	Stuve-Wiedemann syndrome +1 more	GBenign/Likely benign
Select item 871488	NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)	LIFR (K253*)	Duplication (nonsense)	Stuve-Wiedemann syndrome +2 more	GPathogenic
Select item 1211593	NM_001127671.2(LIFR):c.737-56A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210960	NM_001127671.2(LIFR):c.737-221A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321005	NM_001127671.2(LIFR):c.737-320G>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315883	NM_001127671.2(LIFR):c.728A>G (p.Asn243Ser)	LIFR (N243S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618195	NM_001127671.2(LIFR):c.670A>G (p.Ile224Val)	LIFR (I224V)	Single nucleotide variant (missense variant)	not provided	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 1268790	NM_001127671.2(LIFR):c.562-88A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203254	NM_001127671.2(LIFR):c.562-222A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185226	NM_001127671.2(LIFR):c.561+216A>G	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239706	NM_001127671.2(LIFR):c.561+212G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 765571	NM_001127671.2(LIFR):c.553G>A (p.Val185Ile)	LIFR (V185I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618701	NM_001127671.2(LIFR):c.420G>A (p.Glu140=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1321149	NM_001127671.2(LIFR):c.413C>G (p.Thr138Ser)	LIFR (T138S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1266754	NM_001127671.2(LIFR):c.398-56A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185227	NM_001127671.2(LIFR):c.397+29A>C	LIFR	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 283380	NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala)	LIFR (T122A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 353631	NM_001127671.2(LIFR):c.346C>T (p.His116Tyr)	LIFR (H116Y)	Single nucleotide variant (missense variant)	Connective tissue disorder +2 more	GBenign
Select item 1183232	NM_001127671.2(LIFR):c.258-132G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215144	NM_001127671.2(LIFR):c.257+66dup	LIFR	Duplication (intron variant)	not provided	GLikely benign
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 353633	NM_001127671.2(LIFR):c.247A>G (p.Ile83Val)	LIFR (I83V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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

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