LOC130057047[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 30659	NC_000015.10:g.50755991_50948682del	AP4E1, LOC125078079 +5 more	Deletion	Hereditary spastic paraplegia 51	GPathogenic
Select item 57107	GRCh38/hg38 15q21.2(chr15:50756382-50978175)x1	AP4E1, LOC125078079 +5 more	Copy number loss	See cases	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 2045431	NM_032802.4(SPPL2A):c.66+16G>T	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645319	NM_032802.4(SPPL2A):c.66+13del	LOC130057047, SPPL2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1636992	NM_032802.4(SPPL2A):c.66+13G>A	LOC130057047, 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 1170839	NM_032802.4(SPPL2A):c.66+10C>T	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1493780	NM_032802.4(SPPL2A):c.66+7G>T	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778168	NM_032802.4(SPPL2A):c.66+5G>A	LOC130057047, SPPL2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1961517	NM_032802.4(SPPL2A):c.66+5G>C	LOC130057047, SPPL2A	Single nucleotide variant (intron 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 2992033	NM_032802.4(SPPL2A):c.62A>G (p.Gln21Arg)	LOC130057047, SPPL2A (Q21R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906802	NM_032802.4(SPPL2A):c.60C>T (p.Leu20=)	SPPL2A, LOC130057047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1528778	NM_032802.4(SPPL2A):c.55C>T (p.Leu19=)	LOC130057047, SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443161	NM_032802.4(SPPL2A):c.44T>C (p.Leu15Pro)	LOC130057047, SPPL2A (L15P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669356	NM_032802.4(SPPL2A):c.39C>G (p.Ala13=)	LOC130057047, SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2798926	NM_032802.4(SPPL2A):c.35C>T (p.Ala12Val)	LOC130057047, SPPL2A (A12V)	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 1909606	NM_032802.4(SPPL2A):c.32G>A (p.Gly11Glu)	LOC130057047, SPPL2A (G11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1531046	NM_032802.4(SPPL2A):c.30C>T (p.Ala10=)	LOC130057047, SPPL2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509765	NM_032802.4(SPPL2A):c.23C>A (p.Ser8Tyr)	SPPL2A, LOC130057047 (S8Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1500574	NM_032802.4(SPPL2A):c.23C>T (p.Ser8Phe)	LOC130057047, SPPL2A (S8F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082820	NM_032802.4(SPPL2A):c.19C>T (p.Leu7=)	LOC130057047, 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 1913548	NM_032802.4(SPPL2A):c.14G>A (p.Arg5Gln)	LOC130057047, SPPL2A (R5Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394120	NM_032802.4(SPPL2A):c.14G>C (p.Arg5Pro)	LOC130057047, SPPL2A (R5P)	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 1989163	NM_032802.4(SPPL2A):c.13C>G (p.Arg5Gly)	LOC130057047, SPPL2A (R5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165679	NM_032802.4(SPPL2A):c.12G>T (p.Gln4His)	LOC130057047, SPPL2A (Q4H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1450683	NM_032802.4(SPPL2A):c.9_10delinsAA (p.Gln4Lys)	LOC130057047, SPPL2A (Q4K)	Indel (missense variant)	not provided	GUncertain significance
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 1350344	NM_032802.4(SPPL2A):c.3G>C (p.Met1Ile)	LOC130057047, SPPL2A (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 35