32327[HGNC] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 152740	GRCh38/hg38 1p34.1(chr1:45469848-46220805)x3	AKR1A1, CCDC163 +53 more	Copy number gain	See cases	GLikely benign
Select item 148588	GRCh38/hg38 1p34.1(chr1:45488251-46220805)x3	AKR1A1, CCDC163 +52 more	Copy number gain	See cases	GUncertain significance
Select item 3292314	NM_001013615.3(LURAP1):c.38G>T (p.Arg13Leu)	LURAP1, POMGNT1 (R13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121550	NM_001013615.3(LURAP1):c.127C>A (p.Leu43Met)	LURAP1, POMGNT1 (L43M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378611	NM_001013615.3(LURAP1):c.143C>T (p.Ala48Val)	LURAP1, POMGNT1 (A48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121551	NM_001013615.3(LURAP1):c.199G>T (p.Ala67Ser)	LURAP1, POMGNT1 (A67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379216	NM_001013615.3(LURAP1):c.221T>G (p.Val74Gly)	LURAP1, POMGNT1 (V74G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292313	NM_001013615.3(LURAP1):c.262G>A (p.Glu88Lys)	LURAP1, POMGNT1 (E88K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121552	NM_001013615.3(LURAP1):c.289C>T (p.Arg97Trp)	LURAP1, POMGNT1 (R97W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121553	NM_001013615.3(LURAP1):c.349G>A (p.Gly117Arg)	LURAP1, POMGNT1 (G117R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454852	NM_001013615.3(LURAP1):c.355C>T (p.Pro119Ser)	LURAP1, POMGNT1 (P119S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292311	NM_001013615.3(LURAP1):c.412C>T (p.Arg138Trp)	LURAP1, POMGNT1 (R138W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395566	NM_001013615.3(LURAP1):c.413G>A (p.Arg138Gln)	LURAP1, POMGNT1 (R138Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605841	NM_001013615.3(LURAP1):c.430A>C (p.Ile144Leu)	POMGNT1, LURAP1 (I144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318565	NM_001013615.3(LURAP1):c.460A>G (p.Ser154Gly)	LURAP1, POMGNT1 (S154G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524527	NM_001013615.3(LURAP1):c.463G>A (p.Glu155Lys)	LURAP1, POMGNT1 (E155K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403064	NM_001013615.3(LURAP1):c.620A>G (p.Gln207Arg)	LURAP1, POMGNT1 (Q207R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3121556	NM_001013615.3(LURAP1):c.661C>G (p.Leu221Val)	LURAP1, POMGNT1 (L221V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638796	NM_001013615.3(LURAP1):c.669C>T (p.Phe223=)	LURAP1, POMGNT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1526960	GRCh37/hg19 1p34.1(chr1:46083531-46738006)	CCDC17, GPBP1L1 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1459647	NC_000001.10:g.(?_46662483)_(46671639_?)del	LURAP1, POMGNT1	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 +1 more	GPathogenic
Select item 814072	GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3	LURAP1, TSPAN1 +8 more	Copy number gain	not provided	GUncertain significance
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 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	DMBX1, FAAH +11 more	Copy number gain	See cases	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 394255	GRCh37/hg19 1p34.1(chr1:46078097-46725770)x3	CCDC17, GPBP1L1 +9 more	Copy number gain	See cases	GUncertain significance

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Items: 30