ClinVar for Gene (Select 3977) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336029	NM_001127671.2(LIFR):c.142+3A>G	LIFR	Single nucleotide variant (intron variant)	not specified	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 3290641	NM_001127671.2(LIFR):c.1583A>G (p.His528Arg)	LIFR (H528R)	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 3246481	NC_000005.9:g.(?_38523501)_(38528957_?)del	LIFR	Deletion	not provided	GPathogenic
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 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 3118697	NM_001127671.2(LIFR):c.262C>T (p.Arg88Cys)	LIFR (R88C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3118694	NM_001127671.2(LIFR):c.2090A>G (p.Tyr697Cys)	LIFR (Y697C)	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 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 3022709	NM_001127671.2(LIFR):c.1671+9C>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022180	NM_001127671.2(LIFR):c.737-16del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 3020507	NM_001127671.2(LIFR):c.1885+11del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 3019919	NM_001127671.2(LIFR):c.2168-13T>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019750	NM_001127671.2(LIFR):c.2065+11T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018257	NM_001127671.2(LIFR):c.2226A>G (p.Val742=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3018079	NM_001127671.2(LIFR):c.2505A>T (p.Gly835=)	LIFR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017275	NM_001127671.2(LIFR):c.1672-15G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016120	NM_001127671.2(LIFR):c.398-18T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015476	NM_001127671.2(LIFR):c.1970A>G (p.Tyr657Cys)	LIFR (Y657C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010347	NM_001127671.2(LIFR):c.1885+14A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007999	NM_001127671.2(LIFR):c.2592-5T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007890	NM_001127671.2(LIFR):c.939T>C (p.Asn313=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005578	NM_001127671.2(LIFR):c.2331A>G (p.Glu777=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004855	NM_001127671.2(LIFR):c.398-14del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 3002422	NM_001127671.2(LIFR):c.2336-14del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 3000573	NM_001127671.2(LIFR):c.2591+19C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000100	NM_001127671.2(LIFR):c.1601-15_1601-13dup	LIFR	Duplication (intron variant)	not provided	GLikely benign
Select item 2997757	NM_001127671.2(LIFR):c.1438-1G>A	LIFR	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2997315	NM_001127671.2(LIFR):c.309T>G (p.Leu103=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994357	NM_001127671.2(LIFR):c.991+7A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993882	NM_001127671.2(LIFR):c.1437+18A>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992712	NM_001127671.2(LIFR):c.1524G>A (p.Arg508=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990221	NM_001127671.2(LIFR):c.1600+12A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989485	NM_001127671.2(LIFR):c.2664C>G (p.Val888=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985549	NM_001127671.2(LIFR):c.1437+17G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984548	NM_001127671.2(LIFR):c.3102A>G (p.Val1034=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984224	NM_001127671.2(LIFR):c.3210T>A (p.Ile1070=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983114	NM_001127671.2(LIFR):c.462C>A (p.Tyr154Ter)	LIFR (Y154*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2974418	NM_001127671.2(LIFR):c.2706T>C (p.Pro902=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974361	NM_001127671.2(LIFR):c.1438-6C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971932	NM_001127671.2(LIFR):c.2592-18A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966639	NM_001127671.2(LIFR):c.1291+19_1291+21del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 2964356	NM_001127671.2(LIFR):c.1886-17C>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962903	NM_001127671.2(LIFR):c.1438-18T>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962681	NM_001127671.2(LIFR):c.2066-19T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959475	NM_001127671.2(LIFR):c.549G>A (p.Glu183=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957287	NM_001127671.2(LIFR):c.1121+18A>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919995	NM_001127671.2(LIFR):c.258-20_258-19del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 2918347	NM_001127671.2(LIFR):c.457T>G (p.Leu153Val)	LIFR (L153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918249	NM_001127671.2(LIFR):c.992-17C>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917732	NM_001127671.2(LIFR):c.2167+17C>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916788	NM_001127671.2(LIFR):c.2670+20T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916134	NM_001127671.2(LIFR):c.1671+11A>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916022	NM_001127671.2(LIFR):c.1122-16T>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915837	NM_001127671.2(LIFR):c.1885+15T>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913946	NM_001127671.2(LIFR):c.1600+20T>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913913	NM_001127671.2(LIFR):c.1672-16T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913852	NM_001127671.2(LIFR):c.1377T>C (p.Phe459=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913597	NM_001127671.2(LIFR):c.1438-15T>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911904	NM_001127671.2(LIFR):c.258-16C>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911572	NM_001127671.2(LIFR):c.1438-30AT[4]	LIFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2911470	NM_001127671.2(LIFR):c.3213T>C (p.Pro1071=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911065	NM_001127671.2(LIFR):c.1438-16_1438-13del	LIFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2911014	NM_001127671.2(LIFR):c.561+20T>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910392	NM_001127671.2(LIFR):c.2066-20C>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909158	NM_001127671.2(LIFR):c.1671+12A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909032	NM_001127671.2(LIFR):c.2335+18A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908023	NM_001127671.2(LIFR):c.396_397+2del	LIFR	Deletion (splice donor variant)	not provided	GPathogenic
Select item 2903987	NM_001127671.2(LIFR):c.1843T>C (p.Ser615Pro)	LIFR (S615P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898462	NM_001127671.2(LIFR):c.277T>C (p.Leu93=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895916	NM_001127671.2(LIFR):c.2670+11A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895110	NM_001127671.2(LIFR):c.1886-10C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894184	NM_001127671.2(LIFR):c.2167+14G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893982	NM_001127671.2(LIFR):c.258-14A>G	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893943	NM_001127671.2(LIFR):c.1885+13G>A	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893649	NM_001127671.2(LIFR):c.398-17G>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892390	NM_001127671.2(LIFR):c.1569C>T (p.Ser523=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891937	NM_001127671.2(LIFR):c.741A>C (p.Ile247=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891506	NM_001127671.2(LIFR):c.1672-13C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886764	NM_001127671.2(LIFR):c.3234T>C (p.Pro1078=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886046	NM_001127671.2(LIFR):c.2065+14G>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885586	NM_001127671.2(LIFR):c.2274A>G (p.Gly758=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884223	NM_001127671.2(LIFR):c.3162T>C (p.Ile1054=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883288	NM_001127671.2(LIFR):c.1438-30AT[5]	LIFR	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2881622	NM_001127671.2(LIFR):c.992-10_992-8del	LIFR	Deletion (intron variant)	not provided	GLikely benign
Select item 2879107	NM_001127671.2(LIFR):c.992-8del	LIFR	Deletion (intron variant)	not provided	GBenign
Select item 2873761	NM_001127671.2(LIFR):c.2066-18G>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872208	NM_001127671.2(LIFR):c.1246C>T (p.Leu416=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869269	NM_001127671.2(LIFR):c.3168A>C (p.Ser1056=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868607	NM_001127671.2(LIFR):c.2397T>C (p.Ala799=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867738	NM_001127671.2(LIFR):c.1203A>G (p.Pro401=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867700	NM_001127671.2(LIFR):c.1437+11C>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867585	NM_001127671.2(LIFR):c.561+16G>T	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865500	NM_001127671.2(LIFR):c.2167+16A>C	LIFR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2865408	NM_001127671.2(LIFR):c.132_135del (p.Ser44fs)	LIFR (S44fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2863922	NM_001127671.2(LIFR):c.1710C>G (p.Ser570=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860797	NM_001127671.2(LIFR):c.1032T>C (p.His344=)	LIFR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 10