"GeneDx"[submitter] AND "HNRNPK"[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1306592	NM_031263.4(HNRNPK):c.*49T>C	HNRNPK (F438L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1801888	NM_031263.4(HNRNPK):c.1370A>G (p.Gln457Arg)	HNRNPK (Q433R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1222255	NM_031263.4(HNRNPK):c.1361+174T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280999	NM_031263.4(HNRNPK):c.1361+166dup	HNRNPK	Duplication (intron variant)	not provided	GBenign
Select item 280716	NM_031263.4(HNRNPK):c.1250C>A (p.Ser417Ter)	HNRNPK (S417* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1712584	NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)	HNRNPK (G376R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1290030	NM_031263.4(HNRNPK):c.1191+93_1191+94del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 2571743	NM_031263.4(HNRNPK):c.1172A>G (p.Gln391Arg)	HNRNPK (Q367R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501876	NM_031263.4(HNRNPK):c.1108+1G>T	HNRNPK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1225095	NM_031263.4(HNRNPK):c.1008+62C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449308	NM_031263.4(HNRNPK):c.1008+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome +1 more	GPathogenic
Select item 2581815	NM_031263.4(HNRNPK):c.871C>T (p.Pro291Ser)	HNRNPK (P267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312084	NM_031263.4(HNRNPK):c.854C>T (p.Pro285Leu)	HNRNPK (P261L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252948	NM_031263.4(HNRNPK):c.838_840del (p.Tyr280del)	HNRNPK (Y256del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2446098	NM_031263.4(HNRNPK):c.824C>T (p.Pro275Leu)	HNRNPK (P251L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452648	NM_031263.4(HNRNPK):c.796C>T (p.Pro266Ser)	HNRNPK (P266S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424496	NM_031263.4(HNRNPK):c.792G>A (p.Met264Ile)	HNRNPK (M264I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 280639	NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)	HNRNPK	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2729346	NM_031263.4(HNRNPK):c.680C>A (p.Pro227His)	HNRNPK, HNRNPK-AS1 (P227H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2446578	NM_031263.4(HNRNPK):c.584T>C (p.Ile195Thr)	HNRNPK, HNRNPK-AS1 (I171T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 452722	NM_031263.4(HNRNPK):c.569A>C (p.Asp190Ala)	HNRNPK, HNRNPK-AS1 (D190A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3372674	NM_031263.4(HNRNPK):c.557C>T (p.Pro186Leu)	HNRNPK, HNRNPK-AS1 (P162L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1225973	NM_031263.4(HNRNPK):c.517-16del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1223793	NM_031263.4(HNRNPK):c.517-93del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1257211	NM_031263.4(HNRNPK):c.516+15del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2442513	NM_031263.4(HNRNPK):c.448T>A (p.Leu150Met)	HNRNPK, HNRNPK-AS1 (L126M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204941	NM_031263.4(HNRNPK):c.431_434del (p.Asp144fs)	HNRNPK, HNRNPK-AS1 (D120fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2507323	NM_031263.4(HNRNPK):c.331-3C>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1279476	NM_031263.4(HNRNPK):c.331-109_331-107del	HNRNPK, HNRNPK-AS1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251686	NM_031263.4(HNRNPK):c.330+171A>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232629	NM_031263.4(HNRNPK):c.330+170T>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223273	NM_031263.4(HNRNPK):c.330+170del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 3368418	NM_031263.4(HNRNPK):c.289A>G (p.Ile97Val)	HNRNPK, HNRNPK-AS1 (I97V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209565	NM_031263.4(HNRNPK):c.266G>C (p.Ser89Thr)	HNRNPK, HNRNPK-AS1 (S89T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452520	NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	HNRNPK, HNRNPK-AS1 (E85K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 421187	NM_031263.4(HNRNPK):c.248G>A (p.Gly83Asp)	HNRNPK, HNRNPK-AS1 (G83D)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 426851	NM_031263.4(HNRNPK):c.229del (p.Ser77fs)	HNRNPK-AS1, HNRNPK (S77fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2499236	NM_031263.4(HNRNPK):c.214-4G>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3340918	NM_031263.4(HNRNPK):c.214-13A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1263750	NM_031263.4(HNRNPK):c.213+206C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225479	NM_031263.4(HNRNPK):c.213+162T>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249980	NM_031263.4(HNRNPK):c.213+53A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246577	NM_031263.4(HNRNPK):c.157-60T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263413	NM_031263.4(HNRNPK):c.156+166C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342319	NM_031263.4(HNRNPK):c.156+3A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1314751	NM_031263.4(HNRNPK):c.142C>G (p.Leu48Val)	HNRNPK (L48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663562	NM_031263.4(HNRNPK):c.137G>T (p.Arg46Leu)	HNRNPK (R46L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3364640	NM_031263.4(HNRNPK):c.112A>G (p.Asn38Asp)	HNRNPK (N38D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450456	NM_031263.4(HNRNPK):c.59G>A (p.Gly20Asp)	HNRNPK (G20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1236491	NM_031263.4(HNRNPK):c.58+182T>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276430	NM_031263.4(HNRNPK):c.58+33T>A	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373662	NM_031263.4(HNRNPK):c.27C>G (p.Thr9=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1287104	NM_031263.4(HNRNPK):c.-28+40_-28+41del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 1270929	NM_031263.4(HNRNPK):c.-28+41del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 1285706	NM_031263.4(HNRNPK):c.-54C>G	HNRNPK	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 3361270	NM_031263.4(HNRNPK):c.847A>G (p.Met283Val)	HNRNPK (M259V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359516	NM_031263.4(HNRNPK):c.1003G>A (p.Gly335Ser)	HNRNPK (G311S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 58