14504[HGNC] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 149964	GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4	ADPRS, AGO3 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 2254982	NM_031280.4(MRPS15):c.761A>C (p.Lys254Thr)	MRPS15 (K254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208694	NM_031280.4(MRPS15):c.716G>A (p.Arg239Gln)	MRPS15 (R239Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460308	NM_031280.4(MRPS15):c.685G>T (p.Ala229Ser)	MRPS15 (A229S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358017	NM_031280.4(MRPS15):c.641T>C (p.Phe214Ser)	MRPS15 (F214S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208689	NM_031280.4(MRPS15):c.635G>A (p.Arg212Gln)	MRPS15 (R212Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2638673	NM_031280.4(MRPS15):c.612G>A (p.Val204=)	MRPS15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484969	NM_031280.4(MRPS15):c.605G>A (p.Arg202Gln)	MRPS15 (R202Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296075	NM_031280.4(MRPS15):c.601C>T (p.Arg201Cys)	MRPS15 (R201C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208681	NM_031280.4(MRPS15):c.578C>T (p.Pro193Leu)	MRPS15 (P193L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515580	NM_031280.4(MRPS15):c.577C>T (p.Pro193Ser)	MRPS15 (P193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208675	NM_031280.4(MRPS15):c.572T>C (p.Phe191Ser)	MRPS15 (F191S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208673	NM_031280.4(MRPS15):c.556G>C (p.Gly186Arg)	MRPS15 (G186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296650	NM_031280.4(MRPS15):c.368G>C (p.Arg123Thr)	MRPS15 (R123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208666	NM_031280.4(MRPS15):c.297C>A (p.Asn99Lys)	MRPS15 (N99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320873	NM_031280.4(MRPS15):c.269A>C (p.Lys90Thr)	MRPS15 (K90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378219	NM_031280.4(MRPS15):c.265G>A (p.Val89Met)	MRPS15 (V89M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520780	NM_031280.4(MRPS15):c.253G>A (p.Val85Ile)	MRPS15 (V85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296077	NM_031280.4(MRPS15):c.249G>C (p.Glu83Asp)	MRPS15 (E83D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376954	NM_031280.4(MRPS15):c.190G>A (p.Asp64Asn)	MRPS15 (D64N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296078	NM_031280.4(MRPS15):c.149C>G (p.Ala50Gly)	LOC126805699, MRPS15 (A50G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279994	NM_031280.4(MRPS15):c.137T>A (p.Leu46His)	LOC126805699, MRPS15 (L46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599574	NM_031280.4(MRPS15):c.124C>T (p.Pro42Ser)	LOC126805699, MRPS15 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296076	NM_031280.4(MRPS15):c.31T>G (p.Leu11Val)	LOC126805699, MRPS15 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599575	NM_031280.4(MRPS15):c.13G>T (p.Ala5Ser)	LOC126805699, MRPS15 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic

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Items: 35