ClinVar for Gene (Select 84888) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322347	NM_032802.4(SPPL2A):c.874C>G (p.Leu292Val)	SPPL2A (L292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322346	NM_032802.4(SPPL2A):c.242T>C (p.Val81Ala)	SPPL2A (V81A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243902	NC_000015.9:g.(?_50999997)_(51000091_?)dup	SPPL2A	Duplication	not provided	GUncertain significance
Select item 3243901	NC_000015.9:g.(?_50731271)_(51634264_?)dup	AP4E1, CYP19A1 +6 more	Duplication	not provided	GUncertain significance
Select item 3243900	NC_000015.9:g.(?_51014301)_(51041963_?)del	SPPL2A	Deletion	not provided	GUncertain significance
Select item 3243743	NC_000015.9:g.(?_50999997)_(51260594_?)dup	AP4E1, SPPL2A	Duplication	Spastic paraplegia	GUncertain significance
Select item 3169336	NM_032802.4(SPPL2A):c.827G>A (p.Cys276Tyr)	SPPL2A (C276Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169335	NM_032802.4(SPPL2A):c.602T>C (p.Val201Ala)	SPPL2A (V201A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054063	NM_032802.4(SPPL2A):c.1372A>G (p.Met458Val)	SPPL2A (M458V)	Single nucleotide variant (missense variant)	SPPL2A-related disorder	GUncertain significance
Select item 3023666	NM_032802.4(SPPL2A):c.1327+20T>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021576	NM_032802.4(SPPL2A):c.66+12G>A	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3018929	NM_032802.4(SPPL2A):c.361T>C (p.Phe121Leu)	SPPL2A (F121L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010516	NM_032802.4(SPPL2A):c.239C>A (p.Pro80His)	SPPL2A (P80H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3008080	NM_032802.4(SPPL2A):c.734-13T>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007856	NM_032802.4(SPPL2A):c.933-13T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005359	NM_032802.4(SPPL2A):c.1327+18T>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004340	NM_032802.4(SPPL2A):c.1269T>C (p.Cys423=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003913	NM_032802.4(SPPL2A):c.1031T>C (p.Leu344Pro)	SPPL2A (L344P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001974	NM_032802.4(SPPL2A):c.1402T>G (p.Leu468Val)	SPPL2A (L468V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999628	NM_032802.4(SPPL2A):c.1249+3A>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993711	NM_032802.4(SPPL2A):c.853A>G (p.Met285Val)	SPPL2A (M285V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992033	NM_032802.4(SPPL2A):c.62A>G (p.Gln21Arg)	LOC130057047, SPPL2A (Q21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991585	NM_032802.4(SPPL2A):c.264T>C (p.Val88=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989464	NM_032802.4(SPPL2A):c.1250-13T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980710	NM_032802.4(SPPL2A):c.416T>G (p.Phe139Cys)	SPPL2A (F139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980043	NM_032802.4(SPPL2A):c.222C>G (p.Asn74Lys)	SPPL2A (N74K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978455	NM_032802.4(SPPL2A):c.585-17C>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977947	NM_032802.4(SPPL2A):c.195G>A (p.Met65Ile)	SPPL2A (M65I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977790	NM_032802.4(SPPL2A):c.951G>A (p.Gln317=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976455	NM_032802.4(SPPL2A):c.1328-19C>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973675	NM_032802.4(SPPL2A):c.830+12_830+13del	SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 2973341	NM_032802.4(SPPL2A):c.1290T>C (p.Thr430=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967383	NM_032802.4(SPPL2A):c.18G>A (p.Arg6=)	LOC130057047, SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966366	NM_032802.4(SPPL2A):c.1262C>T (p.Ala421Val)	SPPL2A (A421V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966325	NM_032802.4(SPPL2A):c.1447C>T (p.Arg483Cys)	SPPL2A (R483C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958444	NM_032802.4(SPPL2A):c.1332_1333dup (p.Ala445fs)	SPPL2A (A445fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2957070	NM_032802.4(SPPL2A):c.1488+13A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956949	NM_032802.4(SPPL2A):c.1489-20C>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912444	NM_032802.4(SPPL2A):c.273A>G (p.Pro91=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912082	NM_032802.4(SPPL2A):c.1271G>C (p.Arg424Thr)	SPPL2A (R424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907048	NM_032802.4(SPPL2A):c.1480A>G (p.Ser494Gly)	SPPL2A (S494G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2906037	NM_032802.4(SPPL2A):c.1090-7A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2905127	NM_032802.4(SPPL2A):c.1147-4A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2903648	NM_032802.4(SPPL2A):c.492G>C (p.Ser164=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901004	NM_032802.4(SPPL2A):c.831-3T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2891818	NM_032802.4(SPPL2A):c.830+5G>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2889341	NM_032802.4(SPPL2A):c.209C>T (p.Thr70Ile)	SPPL2A (T70I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875666	NM_032802.4(SPPL2A):c.976C>A (p.Leu326Met)	SPPL2A (L326M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875028	NM_032802.4(SPPL2A):c.1100G>A (p.Ser367Asn)	SPPL2A (S367N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874639	NM_032802.4(SPPL2A):c.36C>T (p.Ala12=)	LOC130057047, SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874431	NM_032802.4(SPPL2A):c.233T>C (p.Ile78Thr)	SPPL2A (I78T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871514	NM_032802.4(SPPL2A):c.355G>T (p.Val119Phe)	SPPL2A (V119F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868078	NM_032802.4(SPPL2A):c.932+14A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867046	NM_032802.4(SPPL2A):c.1276T>C (p.Phe426Leu)	SPPL2A (F426L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866441	NM_032802.4(SPPL2A):c.1014+1G>A	SPPL2A	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2862334	NM_032802.4(SPPL2A):c.734-18G>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2857895	NM_032802.4(SPPL2A):c.1252C>T (p.Leu418=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857421	NM_032802.4(SPPL2A):c.1393C>G (p.Leu465Val)	SPPL2A (L465V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847961	NM_032802.4(SPPL2A):c.1409C>T (p.Pro470Leu)	SPPL2A (P470L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843444	NM_032802.4(SPPL2A):c.1204del (p.Leu402fs)	SPPL2A (L402fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2837384	NM_032802.4(SPPL2A):c.1081A>G (p.Ile361Val)	SPPL2A (I361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2832595	NM_032802.4(SPPL2A):c.1147-14_1147-13del	SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 2831315	NM_032802.4(SPPL2A):c.1203C>T (p.Cys401=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830821	NM_032802.4(SPPL2A):c.3G>A (p.Met1Ile)	LOC130057047, SPPL2A (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2828977	NM_032802.4(SPPL2A):c.1068C>T (p.Phe356=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828868	NM_032802.4(SPPL2A):c.1167A>G (p.Val389=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828018	NM_032802.4(SPPL2A):c.1187C>T (p.Ser396Leu)	SPPL2A (S396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824427	NM_032802.4(SPPL2A):c.845G>A (p.Gly282Asp)	SPPL2A (G282D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816793	NM_032802.4(SPPL2A):c.988A>G (p.Lys330Glu)	SPPL2A (K330E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805736	NM_032802.4(SPPL2A):c.13C>T (p.Arg5Trp)	LOC130057047, SPPL2A (R5W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804822	NM_032802.4(SPPL2A):c.32G>T (p.Gly11Val)	LOC130057047, SPPL2A (G11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804015	NM_032802.4(SPPL2A):c.734-4dup	SPPL2A	Duplication (intron variant)	not provided	GBenign
Select item 2800778	NM_032802.4(SPPL2A):c.584+20G>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799747	NM_032802.4(SPPL2A):c.933-14T>C	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798926	NM_032802.4(SPPL2A):c.35C>T (p.Ala12Val)	LOC130057047, SPPL2A (A12V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794780	NM_032802.4(SPPL2A):c.725A>T (p.Lys242Ile)	SPPL2A (K242I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789114	NM_032802.4(SPPL2A):c.1558C>T (p.Gln520Ter)	SPPL2A (Q520*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2785909	NM_032802.4(SPPL2A):c.1370T>C (p.Leu457Pro)	SPPL2A (L457P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783999	NM_032802.4(SPPL2A):c.65T>C (p.Leu22Pro)	LOC130057047, SPPL2A (L22P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782589	NM_032802.4(SPPL2A):c.1014+13A>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781333	NM_032802.4(SPPL2A):c.465C>T (p.Asn155=)	SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780067	NM_032802.4(SPPL2A):c.287A>T (p.His96Leu)	SPPL2A (H96L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778168	NM_032802.4(SPPL2A):c.66+5G>A	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2768846	NM_032802.4(SPPL2A):c.1307A>G (p.Tyr436Cys)	SPPL2A (Y436C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768090	NM_032802.4(SPPL2A):c.1352C>G (p.Thr451Arg)	SPPL2A (T451R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762555	NM_032802.4(SPPL2A):c.1146+7A>T	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751782	NM_032802.4(SPPL2A):c.235C>T (p.Pro79Ser)	SPPL2A (P79S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2738199	NM_032802.4(SPPL2A):c.965T>A (p.Ile322Asn)	SPPL2A (I322N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733851	NM_032802.4(SPPL2A):c.1510G>A (p.Ala504Thr)	SPPL2A (A504T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730415	NM_032802.4(SPPL2A):c.416T>C (p.Phe139Ser)	SPPL2A (F139S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722292	NM_032802.4(SPPL2A):c.1089+7C>G	SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717959	NM_032802.4(SPPL2A):c.1328-10C>A	SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2711414	NM_032802.4(SPPL2A):c.708_711del (p.Leu236fs)	SPPL2A (L236fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2697002	NM_032802.4(SPPL2A):c.66+19G>T	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694199	NM_032802.4(SPPL2A):c.1415C>G (p.Thr472Arg)	SPPL2A (T472R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688411	NM_032802.4(SPPL2A):c.360+87A>G	SPPL2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688405	NM_032802.4(SPPL2A):c.1147-57C>T	SPPL2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688293	NM_032802.4(SPPL2A):c.451-66A>G	SPPL2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688261	NM_032802.4(SPPL2A):c.830+93A>G	SPPL2A	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2685516	GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1	AP4E1, GABPB1 +4 more	Copy number loss	not provided	GUncertain significance

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