HNRNPR[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 3284580	NM_005826.5(HNRNPR):c.1831T>G (p.Ser611Ala)	HNRNPR (S573A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634546	NM_005826.5(HNRNPR):c.1808C>T (p.Pro603Leu)	HNRNPR (P443L +6 more)	Single nucleotide variant (missense variant)	HNRNPR-related disorder	GUncertain significance
Select item 1098608	NM_005826.5(HNRNPR):c.1769A>T (p.Asn590Ile)	HNRNPR (N430I +6 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1710309	NM_005826.5(HNRNPR):c.1754G>A (p.Arg585His)	HNRNPR (R588H +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 3106438	NM_005826.5(HNRNPR):c.1675C>T (p.Arg559Cys)	HNRNPR (R521C +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507831	NM_005826.5(HNRNPR):c.1660A>G (p.Arg554Gly)	HNRNPR (R456G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 520674	NM_005826.5(HNRNPR):c.1654C>T (p.Gln552Ter)	HNRNPR (Q555* +6 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 1346875	NM_005826.5(HNRNPR):c.1651C>T (p.Gln551Ter)	HNRNPR (Q412* +6 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1710308	NM_005826.5(HNRNPR):c.1643dup (p.Pro549fs)	HNRNPR (P389fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 2609054	NM_005826.5(HNRNPR):c.1599_1600dup (p.Ala534fs)	HNRNPR (A395fs +6 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1710307	NM_005826.5(HNRNPR):c.1600dup (p.Ala534fs)	HNRNPR (A374fs +6 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GPathogenic
Select item 2538894	NM_005826.5(HNRNPR):c.1600G>T (p.Ala534Ser)	HNRNPR (A436S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314867	NM_005826.5(HNRNPR):c.1526G>A (p.Arg509Gln)	HNRNPR (R370Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3284581	NM_005826.5(HNRNPR):c.1487G>T (p.Gly496Val)	HNRNPR (G398V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3234651	NM_005826.5(HNRNPR):c.1430A>G (p.Tyr477Cys)	HNRNPR (Y317C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3284582	NM_005826.5(HNRNPR):c.1358G>C (p.Gly453Ala)	HNRNPR (G293A +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2593311	NM_005826.5(HNRNPR):c.1336A>G (p.Ile446Val)	HNRNPR (I286V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2689220	NM_005826.5(HNRNPR):c.1289C>T (p.Ala430Val)	HNRNPR (A270V +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GUncertain significance
Select item 2282777	NM_005826.5(HNRNPR):c.1289C>G (p.Ala430Gly)	HNRNPR (A433G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728062	NM_005826.5(HNRNPR):c.1168-4A>G	HNRNPR	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1441205	NM_005826.5(HNRNPR):c.1088A>G (p.Glu363Gly)	HNRNPR (E203G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106437	NM_005826.5(HNRNPR):c.1048A>T (p.Thr350Ser)	HNRNPR (T312S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272367	NM_005826.5(HNRNPR):c.910_911dup (p.Gln304fs)	HNRNPR (Q165fs +6 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 1684799	NM_005826.5(HNRNPR):c.751G>A (p.Gly251Arg)	HNRNPR (G112R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523931	NM_005826.5(HNRNPR):c.683G>A (p.Ser228Asn)	HNRNPR (S190N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1315413	NM_005826.5(HNRNPR):c.677G>A (p.Cys226Tyr)	HNRNPR (C125Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397404	NM_005826.5(HNRNPR):c.673C>G (p.Leu225Val)	HNRNPR (L187V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2498395	NM_005826.5(HNRNPR):c.658C>T (p.Gln220Ter)	HNRNPR (Q119* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1313026	NM_005826.5(HNRNPR):c.647A>G (p.Lys216Arg)	HNRNPR (K115R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3253107	NM_005826.5(HNRNPR):c.584G>C (p.Arg195Pro)	HNRNPR (R157P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3365265	NM_005826.5(HNRNPR):c.565G>A (p.Gly189Arg)	HNRNPR (G151R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3284584	NM_005826.5(HNRNPR):c.475G>A (p.Val159Met)	HNRNPR (V58M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582486	NM_005826.5(HNRNPR):c.473G>C (p.Gly158Ala)	HNRNPR (G158A +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	GUncertain significance
Select item 2429094	NM_005826.5(HNRNPR):c.448C>T (p.Pro150Ser)	HNRNPR (P150S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1310745	NM_005826.5(HNRNPR):c.381C>G (p.Ile127Met)	HNRNPR (I127M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3284583	NM_005826.5(HNRNPR):c.356C>T (p.Thr119Ile)	HNRNPR (T119I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1310169	NM_005826.5(HNRNPR):c.276+1G>A	HNRNPR	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3032983	NM_005826.5(HNRNPR):c.235_236del (p.Val79fs)	HNRNPR (V79fs)	Deletion (5 prime UTR variant +1 more)	HNRNPR-related disorder	GUncertain significance
Select item 2574318	NM_005826.5(HNRNPR):c.226G>T (p.Ala76Ser)	HNRNPR (A76S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2600081	NM_005826.5(HNRNPR):c.170A>T (p.Tyr57Phe)	HNRNPR (Y57F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3106439	NM_005826.5(HNRNPR):c.95C>T (p.Thr32Ile)	HNRNPR (T32I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339763	NM_005826.5(HNRNPR):c.94A>T (p.Thr32Ser)	HNRNPR (T32S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3247719	NC_000001.10:g.(?_23395012)_(24673151_?)del	ASAP3, CNR2 +22 more	Deletion	Diamond-Blackfan anemia	GPathogenic
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	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 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 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 3360696	NM_005826.5(HNRNPR):c.1874A>G (p.Gln625Arg)	HNRNPR (Q465R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 51