LOC128462409[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 1149147	NM_153758.5(IL19):c.-149+1173C>T	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 1598090	NM_153758.5(IL19):c.-149+1178A>G	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 2718333	NM_153758.5(IL19):c.-149+1179G>A	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GLikely benign
Select item 729486	NM_153758.5(IL19):c.-149+1185A>G	IL10, IL19 +1 more	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GBenign
Select item 2100551	NM_000572.3(IL10):c.137A>G (p.Asp46Gly)	IL10, IL19 +1 more (D46G)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2034096	NM_000572.3(IL10):c.135A>C (p.Arg45=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 840379	NM_000572.3(IL10):c.134G>A (p.Arg45Gln)	LOC128462409, IL10 +1 more (R45Q)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1493990	NM_000572.3(IL10):c.121C>T (p.Leu41Phe)	IL10, IL19 +1 more (L41F)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2168240	NM_000572.3(IL10):c.118A>G (p.Met40Val)	IL10, IL19 +1 more (M40V)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1963390	NM_000572.3(IL10):c.112C>G (p.Pro38Ala)	IL10, IL19 +1 more (P38A)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1051340	NM_000572.3(IL10):c.100C>A (p.Pro34Thr)	IL10, IL19 +1 more (P34T)	Single nucleotide variant (intron variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 526787	NM_000572.3(IL10):c.94C>A (p.His32Asn)	IL10, IL19 +1 more (H32N)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2120422	NM_000572.3(IL10):c.92C>T (p.Thr31Ile)	IL10, IL19 +1 more (T31I)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 1122395	NM_000572.3(IL10):c.84C>T (p.Asn28=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 946285	NM_000572.3(IL10):c.71C>G (p.Thr24Ser)	IL10, IL19 +1 more (T24S)	Single nucleotide variant (intron variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 2177646	NM_000572.3(IL10):c.62G>A (p.Gly21Asp)	IL10, IL19 +1 more (G21D)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 526788	NM_000572.3(IL10):c.58C>T (p.Pro20Ser)	IL10, IL19 +1 more (P20S)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 729261	NM_000572.3(IL10):c.56G>A (p.Ser19Asn)	IL10, IL19 +1 more (S19N)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 726782	NM_000572.3(IL10):c.48G>A (p.Val16=)	LOC128462409, IL10 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 1484774	NM_000572.3(IL10):c.46G>T (p.Val16Leu)	LOC128462409, IL10 +1 more (V16L)	Single nucleotide variant (intron variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 456662	NM_000572.3(IL10):c.43G>A (p.Gly15Arg)	IL10, IL19 +1 more (G15R)	Single nucleotide variant (missense variant +2 more)	Rheumatoid arthritis +4 more	GConflicting classifications of pathogenicity
Select item 1522939	NM_000572.3(IL10):c.37C>A (p.Leu13Met)	IL10, IL19 +1 more (L13M)	Single nucleotide variant (missense variant +2 more)	Inflammatory bowel disease	GUncertain significance
Select item 3285719	NM_000572.3(IL10):c.34C>G (p.Leu12Val)	IL10, IL19 +1 more (L12V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1656712	NM_000572.3(IL10):c.30G>C (p.Leu10=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 1140946	NM_000572.3(IL10):c.18G>A (p.Leu6=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	Inflammatory bowel disease	GLikely benign
Select item 1131513	NM_000572.3(IL10):c.6C>T (p.His2=)	IL10, IL19 +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign

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Items: 29