ClinVar for Gene (Select 79631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3087562	NM_024580.6(EFL1):c.704C>G (p.Thr235Ser)	EFL1 (T184S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3061307	NM_024580.6(EFL1):c.299C>T (p.Ser100Phe)	EFL1 (S100F +1 more)	Single nucleotide variant (missense variant +2 more)	EFL1-related disorder	GUncertain significance
Select item 3057624	NM_024580.6(EFL1):c.525G>A (p.Ala175=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	EFL1-related disorder	GLikely benign
Select item 3048918	NM_024580.6(EFL1):c.304G>T (p.Glu102Ter)	EFL1 (E102* +1 more)	Single nucleotide variant (nonsense +2 more)	EFL1-related disorder	GUncertain significance
Select item 3032531	NM_024580.6(EFL1):c.852T>C (p.Asp284=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	EFL1-related disorder	GLikely benign
Select item 3022005	NM_024580.6(EFL1):c.856-18G>A	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017871	NM_024580.6(EFL1):c.856-4A>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013818	NM_024580.6(EFL1):c.2683G>A (p.Glu895Lys)	EFL1 (E632K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011778	NM_024580.6(EFL1):c.3261C>T (p.Ala1087=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005650	NM_024580.6(EFL1):c.291G>C (p.Val97=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3001367	NM_024580.6(EFL1):c.159+19A>C	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000995	NM_024580.6(EFL1):c.2935C>T (p.Arg979Cys)	EFL1 (R979C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999300	NM_024580.6(EFL1):c.1233T>C (p.Ile411=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2997246	NM_024580.6(EFL1):c.1311A>G (p.Glu437=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994838	NM_024580.6(EFL1):c.2031-9T>C	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993227	NM_024580.6(EFL1):c.288C>T (p.His96=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2988698	NM_024580.6(EFL1):c.1070-16T>C	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987220	NM_024580.6(EFL1):c.264C>G (p.Ile88Met)	EFL1 (I37M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2987137	NM_024580.6(EFL1):c.1751-10C>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982547	NM_024580.6(EFL1):c.360G>A (p.Val120=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2980903	NM_024580.6(EFL1):c.3175-16C>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977624	NM_024580.6(EFL1):c.160-14_160-12dup	EFL1	Duplication (intron variant)	not provided	GLikely benign
Select item 2976120	NM_024580.6(EFL1):c.91+9A>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975022	NM_024580.6(EFL1):c.2271C>T (p.Pro757=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2974714	NM_024580.6(EFL1):c.2904A>G (p.Ala968=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2972122	NM_024580.6(EFL1):c.3084G>T (p.Leu1028=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2960599	NM_024580.6(EFL1):c.3003T>C (p.Ala1001=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2958965	NM_024580.6(EFL1):c.762A>G (p.Gln254=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2957520	NM_024580.6(EFL1):c.1192+8A>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956473	NM_024580.6(EFL1):c.2967C>T (p.Ile989=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955868	NM_024580.6(EFL1):c.856-19C>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915974	NM_024580.6(EFL1):c.2466A>G (p.Gln822=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2912531	NM_024580.6(EFL1):c.2795A>G (p.Asp932Gly)	EFL1 (D932G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912495	NM_024580.6(EFL1):c.1474C>G (p.Pro492Ala)	EFL1 (P441A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2909840	NM_024580.6(EFL1):c.880G>T (p.Val294Leu)	EFL1 (V243L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2907921	NM_024580.6(EFL1):c.2882T>A (p.Leu961Gln)	EFL1 (L698Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901234	NM_024580.6(EFL1):c.2820G>A (p.Lys940=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2897112	NM_024580.6(EFL1):c.3219A>G (p.Glu1073=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2886707	NM_024580.6(EFL1):c.2874A>G (p.Ser958=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2879669	NM_024580.6(EFL1):c.1335A>C (p.Ala445=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2877550	NM_024580.6(EFL1):c.60G>C (p.Arg20Ser)	EFL1 (R20S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2873460	NM_024580.6(EFL1):c.425T>A (p.Val142Asp)	EFL1 (V142D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2862897	NM_024580.6(EFL1):c.159+15T>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862896	NM_024580.6(EFL1):c.159+16del	EFL1	Deletion (intron variant)	not provided	GLikely benign
Select item 2861688	NM_024580.6(EFL1):c.3234G>A (p.Gly1078=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852446	NM_024580.6(EFL1):c.3105T>A (p.Gly1035=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2852014	NM_024580.6(EFL1):c.1293-12G>C	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847847	NM_024580.6(EFL1):c.444T>C (p.Ile148=)	EFL1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2847477	NM_024580.6(EFL1):c.1188A>G (p.Lys396=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843949	NM_024580.6(EFL1):c.3348C>T (p.Leu1116=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2843875	NM_024580.6(EFL1):c.2745G>A (p.Gln915=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2832523	NM_024580.6(EFL1):c.483G>A (p.Glu161=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2831070	NM_024580.6(EFL1):c.1077G>A (p.Val359=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2828277	NM_024580.6(EFL1):c.2421G>A (p.Leu807=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2824807	NM_024580.6(EFL1):c.2733A>G (p.Ala911=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2819249	NM_024580.6(EFL1):c.1444+7C>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817752	NM_024580.6(EFL1):c.2055A>T (p.Val685=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804821	NM_024580.6(EFL1):c.3267G>A (p.Lys1089=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2804669	NM_024580.6(EFL1):c.148C>T (p.Leu50=)	EFL1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2795873	NM_024580.6(EFL1):c.300C>G (p.Ser100=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2789707	NM_024580.6(EFL1):c.2016T>C (p.Asp672=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786035	NM_024580.6(EFL1):c.993G>A (p.Glu331=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2785253	NM_024580.6(EFL1):c.2144T>C (p.Val715Ala)	EFL1 (V664A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2783423	NM_024580.6(EFL1):c.732-7_732-5del	EFL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2778144	NM_024580.6(EFL1):c.855+20T>A	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777539	NM_024580.6(EFL1):c.1257A>G (p.Ala419=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2776487	NM_024580.6(EFL1):c.2511C>A (p.Val837=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2766402	NM_024580.6(EFL1):c.933-14T>C	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765875	NM_024580.6(EFL1):c.1445-15T>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751783	NM_024580.6(EFL1):c.2989+10A>T	EFL1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2751649	NM_024580.6(EFL1):c.933-13G>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2746969	NM_024580.6(EFL1):c.1578G>A (p.Gly526=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2730469	NM_024580.6(EFL1):c.1476T>C (p.Pro492=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2711619	NM_024580.6(EFL1):c.1386G>A (p.Leu462=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2708069	NM_024580.6(EFL1):c.771C>T (p.Gly257=)	EFL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2704027	NM_024580.6(EFL1):c.1883-11del	EFL1	Deletion (intron variant)	not provided	GBenign
Select item 2700712	NM_024580.6(EFL1):c.2980G>C (p.Asp994His)	EFL1 (D943H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2694982	NM_024580.6(EFL1):c.1092T>G (p.Pro364=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662227	NM_024580.6(EFL1):c.713T>C (p.Ile238Thr)	EFL1 (I187T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2579211	GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1	AP3B2, CPEB1 +19 more	Copy number loss	Diamond-Blackfan anemia 4	GPathogenic
Select item 2577886	NM_024580.6(EFL1):c.2632C>A (p.Leu878Ile)	EFL1 (L615I +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GUncertain significance
Select item 2503144	NM_024580.6(EFL1):c.574A>G (p.Arg192Gly)	EFL1 (R141G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2444213	NM_024580.6(EFL1):c.3271A>C (p.Met1091Leu)	EFL1 (M1040L +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GUncertain significance
Select item 2443119	NM_024580.6(EFL1):c.91+6A>G	EFL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2426836	NC_000015.9:g.(?_82545012)_(82554119_?)dup	EFL1	Duplication	not provided	GUncertain significance
Select item 2426835	NC_000015.9:g.(?_82456174)_(82554119_?)dup	EFL1	Duplication	not provided	GUncertain significance
Select item 2426834	NC_000015.9:g.(?_82511973)_(82512590_?)del	EFL1	Deletion	not provided	GUncertain significance
Select item 2420746	NM_024580.6(EFL1):c.1529G>A (p.Arg510Gln)	EFL1 (R247Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2419077	NM_024580.6(EFL1):c.2909G>A (p.Arg970His)	EFL1 (R707H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2417245	NM_024580.6(EFL1):c.989G>A (p.Arg330Gln)	EFL1 (R279Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2408585	NM_024580.6(EFL1):c.2186C>A (p.Pro729His)	EFL1 (P729H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400950	NM_024580.6(EFL1):c.2245G>A (p.Ala749Thr)	EFL1 (A486T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377529	NM_024580.6(EFL1):c.1592C>T (p.Pro531Leu)	EFL1 (P531L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373895	NM_024580.6(EFL1):c.2959T>G (p.Cys987Gly)	EFL1 (C724G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309195	NM_024580.6(EFL1):c.2378A>G (p.His793Arg)	EFL1 (H530R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239886	NM_024580.6(EFL1):c.950A>G (p.Asp317Gly)	EFL1 (D266G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2239885	NM_024580.6(EFL1):c.1444+3A>C	EFL1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2238105	NM_024580.6(EFL1):c.2548G>A (p.Gly850Ser)	EFL1 (G850S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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