ClinVar for Gene (Select 3190) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3347099	NM_031263.4(HNRNPK):c.533T>C (p.Ile178Thr)	HNRNPK, HNRNPK-AS1 (I154T +1 more)	Single nucleotide variant (missense variant)	HNRNPK-related disorder	GUncertain significance
Select item 3342319	NM_031263.4(HNRNPK):c.156+3A>G	HNRNPK	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 3284573	NM_031263.4(HNRNPK):c.245G>C (p.Ser82Thr)	HNRNPK, HNRNPK-AS1 (S82T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284572	NM_031263.4(HNRNPK):c.892G>A (p.Gly298Ser)	HNRNPK (G274S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3255000	NM_031263.4(HNRNPK):c.462T>G (p.Ser154Arg)	HNRNPK, HNRNPK-AS1 (S130R +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 3254999	NM_031263.4(HNRNPK):c.446T>C (p.Leu149Pro)	HNRNPK-AS1, HNRNPK (L125P +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 3254997	NM_031263.4(HNRNPK):c.517-6C>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome	GUncertain significance
Select item 3254786	NM_031263.4(HNRNPK):c.1122_1123insT (p.Gly375fs)	HNRNPK (G351fs +1 more)	Insertion (frameshift variant)	Au-Kline syndrome	GPathogenic
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 3245308	NC_000009.11:g.(?_86585632)_(86585847_?)dup	HNRNPK	Duplication	not provided	GUncertain significance
Select item 3238832	NM_031263.4(HNRNPK):c.1093-2A>C	HNRNPK	Single nucleotide variant (splice acceptor variant)	Au-Kline syndrome	GPathogenic
Select item 3235963	NM_031263.4(HNRNPK):c.563C>G (p.Ser188Cys)	HNRNPK, HNRNPK-AS1 (S164C +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 3233829	NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del)	HNRNPK	Deletion (inframe_deletion)	Au-Kline syndrome	GLikely pathogenic
Select item 3106414	NM_031263.4(HNRNPK):c.516+2dup	HNRNPK, HNRNPK-AS1	Duplication (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 3106413	NM_031263.4(HNRNPK):c.213+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3106412	NM_031263.4(HNRNPK):c.1021G>A (p.Ala341Thr)	HNRNPK (A341T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3106411	NM_031263.4(HNRNPK):c.1000G>A (p.Asp334Asn)	HNRNPK (D310N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064953	NM_031263.4(HNRNPK):c.995G>A (p.Arg332His)	HNRNPK (R308H +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3062277	NM_031263.4(HNRNPK):c.511C>T (p.Arg171Ter)	HNRNPK, HNRNPK-AS1 (R147* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome	GLikely pathogenic
Select item 3017305	NM_031263.4(HNRNPK):c.876TCC[1] (p.Pro294del)	HNRNPK (P270del +1 more)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2969835	NM_031263.4(HNRNPK):c.71C>G (p.Ala24Gly)	HNRNPK (A24G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901526	NM_031263.4(HNRNPK):c.334C>T (p.Leu112=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901252	NM_031263.4(HNRNPK):c.1002C>T (p.Asp334=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897894	NM_031263.4(HNRNPK):c.795T>C (p.Pro265=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897311	NM_031263.4(HNRNPK):c.268A>G (p.Ile90Val)	HNRNPK, HNRNPK-AS1 (I90V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894353	NM_031263.4(HNRNPK):c.953+8G>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892235	NM_031263.4(HNRNPK):c.16C>T (p.Pro6Ser)	HNRNPK (P6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891424	NM_031263.4(HNRNPK):c.1126G>A (p.Gly376Ser)	HNRNPK (G352S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887528	NM_031263.4(HNRNPK):c.675T>C (p.Tyr225=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2882984	NM_031263.4(HNRNPK):c.765G>A (p.Met255Ile)	HNRNPK (M231I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879411	NM_031263.4(HNRNPK):c.331-17T>C	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878443	NM_031263.4(HNRNPK):c.891C>T (p.Gly297=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877623	NM_031263.4(HNRNPK):c.1093-15dup	HNRNPK	Duplication (intron variant)	not provided	GBenign
Select item 2877295	NM_031263.4(HNRNPK):c.1361+7T>G	HNRNPK	Single nucleotide variant (intron variant)	Au-Kline syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2876392	NM_031263.4(HNRNPK):c.1108+17G>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875675	NM_031263.4(HNRNPK):c.516+20del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2870669	NM_031263.4(HNRNPK):c.1042G>A (p.Ala348Thr)	HNRNPK (A324T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870364	NM_031263.4(HNRNPK):c.690C>T (p.Tyr230=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2868912	NM_031263.4(HNRNPK):c.386C>G (p.Ala129Gly)	HNRNPK, HNRNPK-AS1 (A129G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868381	NM_031263.4(HNRNPK):c.516+13_516+15del	HNRNPK-AS1, HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 2868362	NM_031263.4(HNRNPK):c.403-17T>C	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868159	NM_031263.4(HNRNPK):c.517-10C>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867819	NM_031263.4(HNRNPK):c.807T>G (p.Gly269=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867488	NM_031263.4(HNRNPK):c.600T>C (p.Asp200=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863324	NM_031263.4(HNRNPK):c.517-7dup	HNRNPK, HNRNPK-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2852514	NM_031263.4(HNRNPK):c.1240del (p.Arg414fs)	HNRNPK (R390fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2849312	NM_031263.4(HNRNPK):c.156+5A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2839663	NM_031263.4(HNRNPK):c.953+17G>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835448	NM_031263.4(HNRNPK):c.1326C>T (p.Asp442=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832900	NM_031263.4(HNRNPK):c.359C>T (p.Thr120Ile)	HNRNPK, HNRNPK-AS1 (T120I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2832681	NM_031263.4(HNRNPK):c.165G>A (p.Gly55=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826714	NM_031263.4(HNRNPK):c.240CAG[1] (p.Ser82del)	HNRNPK, HNRNPK-AS1 (S82del)	Microsatellite (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2816478	NM_031263.4(HNRNPK):c.594A>G (p.Lys198=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811236	NM_031263.4(HNRNPK):c.1153G>A (p.Gly385Arg)	HNRNPK (G385R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806063	NM_031263.4(HNRNPK):c.1093-13T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801979	NM_031263.4(HNRNPK):c.1297C>A (p.Arg433=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798997	NM_031263.4(HNRNPK):c.43A>G (p.Thr15Ala)	HNRNPK (T15A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789906	NM_031263.4(HNRNPK):c.763A>G (p.Met255Val)	HNRNPK (M231V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2789202	NM_031263.4(HNRNPK):c.1097G>C (p.Gly366Ala)	HNRNPK (G366A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785317	NM_031263.4(HNRNPK):c.1009-6dup	HNRNPK	Duplication (intron variant)	not provided	GLikely benign
Select item 2783878	NM_031263.4(HNRNPK):c.59-14C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756339	NM_031263.4(HNRNPK):c.1092+7T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2754734	NM_031263.4(HNRNPK):c.90A>G (p.Glu30=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744781	NM_031263.4(HNRNPK):c.1192-6T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2719644	NM_031263.4(HNRNPK):c.516+3A>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718411	NM_031263.4(HNRNPK):c.1101C>T (p.Ser367=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2716602	NM_031263.4(HNRNPK):c.1008+7A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709335	NM_031263.4(HNRNPK):c.384T>A (p.Asp128Glu)	HNRNPK, HNRNPK-AS1 (D128E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698269	NM_031263.4(HNRNPK):c.258-7T>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2673176	NM_031263.4(HNRNPK):c.80T>C (p.Met27Thr)	HNRNPK (M27T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672243	NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser)	HNRNPK-AS1, HNRNPK (G213S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Au-Kline syndrome	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 2659282	NM_031263.4(HNRNPK):c.720A>C (p.Thr240=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2659281	NM_031263.4(HNRNPK):c.1009-1G>A	HNRNPK	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2637294	NM_031263.4(HNRNPK):c.566C>T (p.Thr189Ile)	HNRNPK, HNRNPK-AS1 (T165I +1 more)	Single nucleotide variant (missense variant)	HNRNPK-related disorder	GLikely pathogenic
Select item 2637293	NM_031263.4(HNRNPK):c.1109-1G>A	HNRNPK	Single nucleotide variant (splice acceptor variant)	HNRNPK-related disorder	GLikely pathogenic
Select item 2631194	NM_031263.4(HNRNPK):c.1053_1054dup (p.Trp352fs)	HNRNPK (W328fs +1 more)	Duplication (frameshift variant)	HNRNPK-related disorder	GPathogenic
Select item 2608342	NM_031263.4(HNRNPK):c.139A>G (p.Ile47Val)	HNRNPK (I47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2584625	NM_031263.4(HNRNPK):c.1191+2T>G	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome	GLikely pathogenic
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 2576028	NM_031263.4(HNRNPK):c.214-55T>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2573161	NM_031263.4(HNRNPK):c.257+5G>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome	GPathogenic
Select item 2573160	NM_031263.4(HNRNPK):c.1361+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome	GPathogenic
Select item 2572566	NM_031263.4(HNRNPK):c.1191+3A>T	HNRNPK	Single nucleotide variant (intron variant)	Au-Kline syndrome	GUncertain significance
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 2507323	NM_031263.4(HNRNPK):c.331-3C>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron 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 2500862	NM_031263.4(HNRNPK):c.214-6A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome +1 more	GUncertain significance
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 2499094	NM_031263.4(HNRNPK):c.950_953+1dup	HNRNPK	Duplication (splice donor variant)	not provided	GPathogenic
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 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 2444445	NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)	HNRNPK (R272* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2444110	NM_031263.4(HNRNPK):c.517-7_521del	HNRNPK, HNRNPK-AS1	Deletion (splice acceptor variant)	Au-Kline syndrome	GLikely pathogenic
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

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