ClinVar for Gene (Select 123706516) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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, HNRNPK-AS1 (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 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 3106414	NM_031263.4(HNRNPK):c.516+2dup	HNRNPK, HNRNPK-AS1	Duplication (splice donor variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 2879411	NM_031263.4(HNRNPK):c.331-17T>C	HNRNPK, HNRNPK-AS1	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 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 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 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 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 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 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 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 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 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 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 2507323	NM_031263.4(HNRNPK):c.331-3C>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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
Select item 2441759	NM_031263.4(HNRNPK):c.460_461del (p.Leu155fs)	HNRNPK, HNRNPK-AS1 (L131fs +1 more)	Microsatellite (frameshift variant)	Au-Kline syndrome	GLikely pathogenic
Select item 2432516	NM_031263.4(HNRNPK):c.455A>T (p.His152Leu)	HNRNPK, HNRNPK-AS1 (H128L +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 2412686	NM_031263.4(HNRNPK):c.575T>G (p.Val192Gly)	HNRNPK, HNRNPK-AS1 (V168G +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 2192147	NM_031263.4(HNRNPK):c.525A>G (p.Gln175=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180586	NM_031263.4(HNRNPK):c.645+7C>A	HNRNPK-AS1, HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116171	NM_031263.4(HNRNPK):c.646-10C>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099367	NM_031263.4(HNRNPK):c.398dup (p.Leu133fs)	HNRNPK, HNRNPK-AS1 (L133fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2023774	NM_031263.4(HNRNPK):c.517-4A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022032	NM_031263.4(HNRNPK):c.645+13A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2003581	NM_031263.4(HNRNPK):c.403-12C>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977933	NM_031263.4(HNRNPK):c.330+18dup	HNRNPK, HNRNPK-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1975675	NM_031263.4(HNRNPK):c.330+18del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1974336	NM_031263.4(HNRNPK):c.522T>C (p.Thr174=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1972139	NM_031263.4(HNRNPK):c.517-16dup	HNRNPK, HNRNPK-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1971720	NM_031263.4(HNRNPK):c.330+18T>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970986	NM_031263.4(HNRNPK):c.516+15dup	HNRNPK, HNRNPK-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1805748	NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)	HNRNPK, HNRNPK-AS1 (L123* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome	GPathogenic
Select item 1706586	NM_031263.4(HNRNPK):c.402+1G>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (splice donor variant +1 more)	Au-Kline syndrome	GPathogenic
Select item 1704363	NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)	HNRNPK, HNRNPK-AS1	Deletion (inframe_deletion)	Au-Kline syndrome	GLikely pathogenic
Select item 1279476	NM_031263.4(HNRNPK):c.331-109_331-107del	HNRNPK, HNRNPK-AS1	Microsatellite (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 1251920	NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter)	HNRNPK, HNRNPK-AS1 (Q122*)	Single nucleotide variant (nonsense +1 more)	Au-Kline syndrome	GLikely pathogenic
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 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 1223273	NM_031263.4(HNRNPK):c.330+170del	HNRNPK, HNRNPK-AS1	Deletion (intron variant)	not provided	GBenign
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 1204941	NM_031263.4(HNRNPK):c.431_434del (p.Asp144fs)	HNRNPK, HNRNPK-AS1 (D120fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1172625	NM_031263.4(HNRNPK):c.452T>A (p.Ile151Asn)	HNRNPK, HNRNPK-AS1 (I127N +1 more)	Single nucleotide variant (missense variant)	Generalized hypotonia	GLikely pathogenic
Select item 1029562	NM_031263.4(HNRNPK):c.645+1G>T	HNRNPK, HNRNPK-AS1	Single nucleotide variant (splice donor variant)	Au-Kline syndrome	GLikely pathogenic
Select item 1029561	NM_031263.4(HNRNPK):c.573_574del (p.Arg191fs)	HNRNPK, HNRNPK-AS1 (R167fs +1 more)	Microsatellite (frameshift variant)	Au-Kline syndrome	GPathogenic
Select item 986250	NM_031263.4(HNRNPK):c.676_678del (p.Asp226del)	HNRNPK-AS1, HNRNPK (D202del +1 more)	Deletion (inframe_deletion)	Inborn genetic diseases	GLikely pathogenic
Select item 818201	NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)	HNRNPK, HNRNPK-AS1 (Y201H +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome +1 more	GPathogenic/Likely pathogenic
Select item 805755	NM_031263.4(HNRNPK):c.560A>G (p.His187Arg)	HNRNPK, HNRNPK-AS1 (H163R +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 784144	NM_031263.4(HNRNPK):c.435C>T (p.Cys145=)	HNRNPK, HNRNPK-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725243	NM_031263.4(HNRNPK):c.258-8T>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 625163	NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)	HNRNPK-AS1, HNRNPK (L155P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 623650	NM_031263.4(HNRNPK):c.646-1G>A	HNRNPK, HNRNPK-AS1	Single nucleotide variant (splice acceptor variant)	Au-Kline syndrome	GLikely pathogenic
Select item 522798	NM_031263.4(HNRNPK):c.214-35A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome	GLikely pathogenic
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 452520	NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys)	HNRNPK, HNRNPK-AS1 (E85K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426851	NM_031263.4(HNRNPK):c.229del (p.Ser77fs)	HNRNPK-AS1, HNRNPK (S77fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 212776	NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)	HNRNPK, HNRNPK-AS1 (R86H)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GPathogenic/Likely pathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 98