RRAGC[gene] - ClinVar

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Items: 34

	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 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 155202	GRCh38/hg38 1p34.3(chr1:38490485-39548775)x1	AKIRIN1, BMP8A +53 more	Copy number loss	See cases	GLikely benign
Select item 3156375	NM_022157.4(RRAGC):c.1195A>G (p.Ile399Val)	RRAGC (I365V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362785	NM_022157.4(RRAGC):c.1173C>A (p.His391Gln)	RRAGC (H391Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305393	NM_022157.4(RRAGC):c.949A>G (p.Ile317Val)	RRAGC (I283V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156379	NM_022157.4(RRAGC):c.900G>A (p.Gly300=)	RRAGC	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2560133	NM_022157.4(RRAGC):c.767T>G (p.Ile256Ser)	RRAGC (I222S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291357	NM_022157.4(RRAGC):c.764G>T (p.Gly255Val)	RRAGC (G221V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3347428	NM_022157.4(RRAGC):c.599A>T (p.Asn200Ile)	RRAGC (N166I +1 more)	Single nucleotide variant (missense variant)	RRAGC-related condition	GUncertain significance
Select item 3315386	NM_022157.4(RRAGC):c.488A>G (p.Lys163Arg)	RRAGC (K163R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569277	NM_022157.4(RRAGC):c.463A>G (p.Thr155Ala)	RRAGC (T121A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2663874	NM_022157.4(RRAGC):c.353C>T (p.Pro118Leu)	RRAGC (P118L +1 more)	Single nucleotide variant (missense variant)	Long-Olsen-Distelmaier syndrome	GPathogenic
Select item 2430326	NM_022157.4(RRAGC):c.343T>C (p.Trp115Arg)	RRAGC (W115R +1 more)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2491766	NM_022157.4(RRAGC):c.342A>G (p.Ile114Met)	RRAGC (I114M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295168	NM_022157.4(RRAGC):c.323C>T (p.Ser108Phe)	RRAGC (S108F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2663873	NM_022157.4(RRAGC):c.269C>A (p.Thr90Asn)	RRAGC (T90N)	Single nucleotide variant (missense variant +1 more)	Long-Olsen-Distelmaier syndrome	GPathogenic
Select item 1224625	NM_022157.4(RRAGC):c.237+19A>G	LOC112577596, RRAGC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663872	NM_022157.4(RRAGC):c.224C>A (p.Ser75Tyr)	LOC112577596, RRAGC (S75Y)	Single nucleotide variant (missense variant)	Long-Olsen-Distelmaier syndrome	GPathogenic
Select item 2225580	NM_022157.4(RRAGC):c.164G>C (p.Gly55Ala)	LOC112577596, RRAGC (G55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309420	NM_022157.4(RRAGC):c.160C>T (p.Pro54Ser)	LOC112577596, RRAGC (P54S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523287	NM_022157.4(RRAGC):c.131T>C (p.Val44Ala)	LOC112577596, RRAGC (V44A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228332	NM_022157.4(RRAGC):c.128G>T (p.Gly43Val)	LOC112577596, RRAGC (G43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266832	NM_022157.4(RRAGC):c.96G>C (p.Glu32Asp)	LOC112577596, RRAGC (E32D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3156378	NM_022157.4(RRAGC):c.58G>C (p.Asp20His)	LOC112577596, RRAGC (D20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472266	NM_022157.4(RRAGC):c.52G>A (p.Ala18Thr)	LOC112577596, RRAGC (A18T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 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 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 565086	GRCh37/hg19 1p34.3(chr1:39094582-39794108)x3	AKIRIN1, RHBDL2 +5 more	Copy number gain	not provided	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

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Items: 34