25789[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 151220	GRCh38/hg38 15q25.2(chr15:82127892-82258878)x3	EFL1, LOC129390726 +1 more	Copy number gain	See cases	GLikely benign
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 2843949	NM_024580.6(EFL1):c.3348C>T (p.Leu1116=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1372304	NM_024580.6(EFL1):c.3332A>G (p.Glu1111Gly)	EFL1 (E1060G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1591666	NM_024580.6(EFL1):c.3288G>A (p.Lys1096=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 522584	NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)	EFL1 (R1095Q +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2 +1 more	GConflicting classifications of pathogenicity
Select item 2059919	NM_024580.6(EFL1):c.3283C>T (p.Arg1095Ter)	EFL1 (R1044* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2052960	NM_024580.6(EFL1):c.3277G>A (p.Ala1093Thr)	EFL1 (A1093T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2181344	NM_024580.6(EFL1):c.3276C>T (p.Asn1092=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2804821	NM_024580.6(EFL1):c.3267G>A (p.Lys1089=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995139	NM_024580.6(EFL1):c.3264G>T (p.Arg1088=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2861688	NM_024580.6(EFL1):c.3234G>A (p.Gly1078=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 985048	NM_024580.6(EFL1):c.3233G>A (p.Gly1078Glu)	EFL1 (G1027E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1407148	NM_024580.6(EFL1):c.3208A>T (p.Thr1070Ser)	EFL1 (T807S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686817	NM_024580.6(EFL1):c.3205A>G (p.Thr1069Ala)	EFL1 (T1069A +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GPathogenic
Select item 1522707	NM_024580.6(EFL1):c.3203C>T (p.Pro1068Leu)	EFL1 (P1068L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1632583	NM_024580.6(EFL1):c.3192C>T (p.Pro1064=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1382246	NM_024580.6(EFL1):c.3175-10_3175-8del	EFL1	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2980903	NM_024580.6(EFL1):c.3175-16C>T	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642072	NM_024580.6(EFL1):c.3174+20T>A	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958637	NM_024580.6(EFL1):c.3174+16C>G	EFL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978259	NM_024580.6(EFL1):c.3166C>T (p.His1056Tyr)	EFL1 (H1056Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1469930	NM_024580.6(EFL1):c.3164G>A (p.Ser1055Asn)	EFL1 (S792N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1551352	NM_024580.6(EFL1):c.3153A>G (p.Gln1051=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518255	NM_024580.6(EFL1):c.3153A>T (p.Gln1051His)	EFL1 (Q1051H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1594477	NM_024580.6(EFL1):c.3117A>G (p.Glu1039=)	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 2972122	NM_024580.6(EFL1):c.3084G>T (p.Leu1028=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1935111	NM_024580.6(EFL1):c.3084G>C (p.Leu1028=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995671	NM_024580.6(EFL1):c.3079G>A (p.Val1027Met)	EFL1 (V1027M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051738	NM_024580.6(EFL1):c.3070A>G (p.Ile1024Val)	EFL1 (I1024V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1425034	NM_024580.6(EFL1):c.3061A>T (p.Met1021Leu)	EFL1 (M970L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2166412	NM_024580.6(EFL1):c.3042A>G (p.Glu1014=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 715816	NM_024580.6(EFL1):c.3028G>A (p.Val1010Ile)	EFL1 (V1010I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2145644	NM_024580.6(EFL1):c.3026G>A (p.Arg1009Gln)	EFL1 (R746Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1419320	NM_024580.6(EFL1):c.2993G>A (p.Arg998Gln)	EFL1 (R735Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1255374	NM_024580.6(EFL1):c.2990-36T>C	EFL1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2106805	NM_024580.6(EFL1):c.2989+15G>A	EFL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1503378	NM_024580.6(EFL1):c.2989G>A (p.Gly997Ser)	EFL1 (G946S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955035	NM_024580.6(EFL1):c.2986C>G (p.Leu996Val)	EFL1 (L996V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1165403	NM_024580.6(EFL1):c.2971G>A (p.Ala991Thr)	EFL1 (A728T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 1952867	NM_024580.6(EFL1):c.2965A>G (p.Ile989Val)	EFL1 (I938V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944846	NM_024580.6(EFL1):c.2964C>T (p.Asp988=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2075681	NM_024580.6(EFL1):c.2950A>G (p.Met984Val)	EFL1 (M984V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1388558	NM_024580.6(EFL1):c.2947G>A (p.Ala983Thr)	EFL1 (A720T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2130765	NM_024580.6(EFL1):c.2940G>A (p.Leu980=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1475392	NM_024580.6(EFL1):c.2936G>A (p.Arg979His)	EFL1 (R716H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1907707	NM_024580.6(EFL1):c.2934G>A (p.Gln978=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1398889	NM_024580.6(EFL1):c.2929C>T (p.Pro977Ser)	EFL1 (P977S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1942282	NM_024580.6(EFL1):c.2928A>G (p.Lys976=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 985047	NM_024580.6(EFL1):c.2908C>T (p.Arg970Cys)	EFL1 (R707C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2097278	NM_024580.6(EFL1):c.2902G>A (p.Ala968Thr)	EFL1 (A917T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1301780	NM_024580.6(EFL1):c.2902G>T (p.Ala968Ser)	EFL1 (A705S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1943236	NM_024580.6(EFL1):c.2894T>G (p.Met965Arg)	EFL1 (M965R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2078794	NM_024580.6(EFL1):c.2891C>G (p.Thr964Ser)	EFL1 (T913S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1944295	NM_024580.6(EFL1):c.2883A>G (p.Leu961=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2886707	NM_024580.6(EFL1):c.2874A>G (p.Ser958=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1900965	NM_024580.6(EFL1):c.2872T>A (p.Ser958Thr)	EFL1 (S695T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1028316	NM_024580.6(EFL1):c.2866C>A (p.Pro956Thr)	EFL1 (P956T +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GUncertain significance
Select item 1423650	NM_024580.6(EFL1):c.2861A>C (p.Tyr954Ser)	EFL1 (Y954S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1166425	NM_024580.6(EFL1):c.2856C>T (p.Asp952=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1392302	NM_024580.6(EFL1):c.2842T>A (p.Ser948Thr)	EFL1 (S948T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1906243	NM_024580.6(EFL1):c.2841A>T (p.Glu947Asp)	EFL1 (E896D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1478729	NM_024580.6(EFL1):c.2839G>C (p.Glu947Gln)	EFL1 (E684Q +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 2000026	NM_024580.6(EFL1):c.2803T>C (p.Ser935Pro)	EFL1 (S935P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1485335	NM_024580.6(EFL1):c.2795A>C (p.Asp932Ala)	EFL1 (D881A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1603534	NM_024580.6(EFL1):c.2793A>G (p.Gln931=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1470287	NM_024580.6(EFL1):c.2787G>T (p.Glu929Asp)	EFL1 (E878D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2189540	NM_024580.6(EFL1):c.2784A>G (p.Gln928=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1974475	NM_024580.6(EFL1):c.2772A>C (p.Gly924=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522856	NM_024580.6(EFL1):c.2751A>C (p.Glu917Asp)	EFL1 (E866D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1941545	NM_024580.6(EFL1):c.2742A>T (p.Gly914=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1613293	NM_024580.6(EFL1):c.2739G>A (p.Glu913=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2119438	NM_024580.6(EFL1):c.2738A>G (p.Glu913Gly)	EFL1 (E650G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2176860	NM_024580.6(EFL1):c.2705T>C (p.Phe902Ser)	EFL1 (F639S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2116612	NM_024580.6(EFL1):c.2702A>C (p.Lys901Thr)	EFL1 (K638T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1493032	NM_024580.6(EFL1):c.2701A>G (p.Lys901Glu)	EFL1 (K638E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1479770	NM_024580.6(EFL1):c.2677G>C (p.Val893Leu)	EFL1 (V842L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1620966	NM_024580.6(EFL1):c.2661C>T (p.Leu887=)	EFL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686816	NM_024580.6(EFL1):c.2647T>G (p.Cys883Gly)	EFL1 (C620G +1 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GPathogenic
Select item 522583	NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)	EFL1 (M882K +2 more)	Single nucleotide variant (missense variant +1 more)	Shwachman-Diamond syndrome 2	GPathogenic

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