"Ambry Genetics"[submitter] AND "LIFR"[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2304387	NM_001127671.2(LIFR):c.3223G>A (p.Glu1075Lys)	LIFR (E1075K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618197	NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly)	LIFR (D1074G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2138948	NM_001127671.2(LIFR):c.3217A>G (p.Lys1073Glu)	LIFR (K1073E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330920	NM_001127671.2(LIFR):c.3149G>C (p.Ser1050Thr)	LIFR (S1039T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324153	NM_001127671.2(LIFR):c.3095C>A (p.Ala1032Asp)	LIFR (A1032D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164181	NM_001127671.2(LIFR):c.3002A>G (p.Tyr1001Cys)	LIFR (Y990C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474764	NM_001127671.2(LIFR):c.2940G>A (p.Met980Ile)	LIFR (M969I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118699	NM_001127671.2(LIFR):c.2915T>A (p.Val972Asp)	LIFR (V972D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199791	NM_001127671.2(LIFR):c.2875C>A (p.Pro959Thr)	LIFR (P959T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2314407	NM_001127671.2(LIFR):c.2854C>G (p.Pro952Ala)	LIFR (P952A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304153	NM_001127671.2(LIFR):c.2848T>G (p.Cys950Gly)	LIFR (C950G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118698	NM_001127671.2(LIFR):c.2846A>G (p.Tyr949Cys)	LIFR (Y938C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480377	NM_001127671.2(LIFR):c.2833G>T (p.Val945Leu)	LIFR (V945L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274960	NM_001127671.2(LIFR):c.2725G>A (p.Glu909Lys)	LIFR (E909K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2147544	NM_001127671.2(LIFR):c.2720A>G (p.Asn907Ser)	LIFR (N907S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3118696	NM_001127671.2(LIFR):c.2462C>T (p.Pro821Leu)	LIFR (P821L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2289070	NM_001127671.2(LIFR):c.2339G>A (p.Arg780His)	LIFR (R780H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 353618	NM_001127671.2(LIFR):c.2309C>T (p.Thr770Ile)	LIFR (T770I)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 2058537	NM_001127671.2(LIFR):c.2284T>C (p.Tyr762His)	LIFR (Y762H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2160036	NM_001127671.2(LIFR):c.2137C>T (p.Arg713Cys)	LIFR (R713C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3118694	NM_001127671.2(LIFR):c.2090A>G (p.Tyr697Cys)	LIFR (Y697C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541791	NM_001127671.2(LIFR):c.2069A>C (p.Glu690Ala)	LIFR (E690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3118693	NM_001127671.2(LIFR):c.2015T>C (p.Met672Thr)	LIFR (M672T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2259252	NM_001127671.2(LIFR):c.1654T>G (p.Leu552Val)	LIFR (L552V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290641	NM_001127671.2(LIFR):c.1583A>G (p.His528Arg)	LIFR (H528R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230078	NM_001127671.2(LIFR):c.1526T>C (p.Ile509Thr)	LIFR (I509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290640	NM_001127671.2(LIFR):c.1495T>A (p.Leu499Ile)	LIFR (L499I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295067	NM_001127671.2(LIFR):c.1457G>T (p.Gly486Val)	LIFR (G486V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 904904	NM_001127671.2(LIFR):c.1134A>T (p.Lys378Asn)	LIFR (K378N)	Single nucleotide variant (missense variant)	Stuve-Wiedemann syndrome +1 more	GUncertain significance
Select item 2397184	NM_001127671.2(LIFR):c.1103G>T (p.Ser368Ile)	LIFR (S368I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278423	NM_001127671.2(LIFR):c.1093C>T (p.Arg365Cys)	LIFR (R365C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619778	NM_001127671.2(LIFR):c.1006C>G (p.Pro336Ala)	LIFR (P336A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1438635	NM_001127671.2(LIFR):c.962A>G (p.Asn321Ser)	LIFR (N321S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2471827	NM_001127671.2(LIFR):c.952A>G (p.Thr318Ala)	LIFR (T318A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180743	NM_001127671.2(LIFR):c.788T>A (p.Val263Glu)	LIFR (V263E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2242603	NM_001127671.2(LIFR):c.626T>A (p.Met209Lys)	LIFR (M209K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465955	NM_001127671.2(LIFR):c.475G>A (p.Asp159Asn)	LIFR (D159N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537455	NM_001127671.2(LIFR):c.449C>A (p.Thr150Asn)	LIFR (T150N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2190225	NM_001127671.2(LIFR):c.416C>T (p.Pro139Leu)	LIFR (P139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1356778	NM_001127671.2(LIFR):c.410A>G (p.Asp137Gly)	LIFR (D137G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2551111	NM_001127671.2(LIFR):c.331A>G (p.Thr111Ala)	LIFR (T111A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064797	NM_001127671.2(LIFR):c.328A>G (p.Ile110Val)	LIFR (I110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3118697	NM_001127671.2(LIFR):c.262C>T (p.Arg88Cys)	LIFR (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 906502	NM_001127671.2(LIFR):c.258G>T (p.Arg86Ser)	LIFR (R86S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2302317	NM_001127671.2(LIFR):c.217A>G (p.Thr73Ala)	LIFR (T73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2297737	NM_001127671.2(LIFR):c.193T>C (p.Cys65Arg)	LIFR (C65R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337452	NM_001127671.2(LIFR):c.175A>C (p.Asn59His)	LIFR (N59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496120	NM_001127671.2(LIFR):c.172A>G (p.Asn58Asp)	LIFR (N58D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298635	NM_001127671.2(LIFR):c.91T>C (p.Ser31Pro)	LIFR (S31P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297002	NM_001127671.2(LIFR):c.60G>C (p.Met20Ile)	LIFR (M20I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478645	NM_001127671.2(LIFR):c.58A>G (p.Met20Val)	LIFR (M20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3290643	NM_001127671.2(LIFR):c.29G>A (p.Arg10Gln)	LIFR (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 353637	NM_001127671.2(LIFR):c.16G>A (p.Val6Ile)	LIFR (V6I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2053322	NM_001127671.2(LIFR):c.4A>G (p.Met2Val)	LIFR (M2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 57