3190[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 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 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 2133113	NM_031263.4(HNRNPK):c.1362-6_1362-5dup	HNRNPK	Duplication (intron variant)	not provided	GLikely benign
Select item 717027	NM_031263.4(HNRNPK):c.1362-9_1362-5del	HNRNPK	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1974174	NM_031263.4(HNRNPK):c.1362-15dup	HNRNPK	Duplication (intron variant)	not provided	GBenign
Select item 1974011	NM_031263.4(HNRNPK):c.1362-15del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 2013721	NM_031263.4(HNRNPK):c.1362-16T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2573160	NM_031263.4(HNRNPK):c.1361+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome	GPathogenic
Select item 1342443	NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys)	HNRNPK (N429K +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 2835448	NM_031263.4(HNRNPK):c.1326C>T (p.Asp442=)	HNRNPK	Single nucleotide variant (synonymous 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 981894	NM_031263.4(HNRNPK):c.1294del (p.Asp432fs)	HNRNPK (D408fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 751530	NM_031263.4(HNRNPK):c.1290C>T (p.Ser430=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1077160	NM_031263.4(HNRNPK):c.1282G>A (p.Glu428Lys)	HNRNPK (E404K +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 986914	NM_031263.4(HNRNPK):c.1273G>T (p.Glu425Ter)	HNRNPK (E401* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 755886	NM_031263.4(HNRNPK):c.1260G>A (p.Ser420=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189176	NM_031263.4(HNRNPK):c.1251G>A (p.Ser417=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2852514	NM_031263.4(HNRNPK):c.1240del (p.Arg414fs)	HNRNPK (R390fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1685880	NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys)	HNRNPK (R390C +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GPathogenic
Select item 745670	NM_031263.4(HNRNPK):c.1236A>G (p.Gln412=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343289	NM_031263.4(HNRNPK):c.1225C>T (p.Arg409Trp)	HNRNPK (R385W +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 2417648	NM_031263.4(HNRNPK):c.1206T>C (p.Ile402=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 931166	NM_031263.4(HNRNPK):c.1192-14_1192-2del	HNRNPK	Deletion (splice acceptor variant)	Au-Kline syndrome	GPathogenic
Select item 1803038	NM_031263.4(HNRNPK):c.1192-7_1192-3del	HNRNPK	Deletion (intron variant)	Au-Kline syndrome	GPathogenic
Select item 2744781	NM_031263.4(HNRNPK):c.1192-6T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972507	NM_031263.4(HNRNPK):c.1192-17T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972994	NM_031263.4(HNRNPK):c.1192-20del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 1290030	NM_031263.4(HNRNPK):c.1191+93_1191+94del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 2419201	NM_031263.4(HNRNPK):c.1191+9C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2572566	NM_031263.4(HNRNPK):c.1191+3A>T	HNRNPK	Single nucleotide variant (intron variant)	Au-Kline syndrome	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 1342637	NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser)	HNRNPK (P371S +1 more)	Single nucleotide variant (missense 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 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 723769	NM_031263.4(HNRNPK):c.1140T>C (p.Tyr380=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3254786	NM_031263.4(HNRNPK):c.1122_1123insT (p.Gly375fs)	HNRNPK (G351fs +1 more)	Insertion (frameshift variant)	Au-Kline syndrome	GPathogenic
Select item 689628	NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp)	HNRNPK (G351W +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 1980095	NM_031263.4(HNRNPK):c.1118A>G (p.Tyr373Cys)	HNRNPK (Y349C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685346	NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly)	HNRNPK (D346G +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	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 1700212	NM_031263.4(HNRNPK):c.1109-3C>G	HNRNPK	Single nucleotide variant (intron variant)	Au-Kline syndrome	GLikely pathogenic
Select item 1972419	NM_031263.4(HNRNPK):c.1109-20C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2876392	NM_031263.4(HNRNPK):c.1108+17G>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501876	NM_031263.4(HNRNPK):c.1108+1G>T	HNRNPK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2718411	NM_031263.4(HNRNPK):c.1101C>T (p.Ser367=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 503604	NM_002140.4(HNRNPK):c.1094delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 3238832	NM_031263.4(HNRNPK):c.1093-2A>C	HNRNPK	Single nucleotide variant (splice acceptor variant)	Au-Kline syndrome	GPathogenic
Select item 2806063	NM_031263.4(HNRNPK):c.1093-13T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877623	NM_031263.4(HNRNPK):c.1093-15dup	HNRNPK	Duplication (intron variant)	not provided	GBenign
Select item 1977404	NM_031263.4(HNRNPK):c.1092+10_1092+26del	HNRNPK	Deletion (intron variant)	not provided	GBenign
Select item 1973587	NM_031263.4(HNRNPK):c.1092+20C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726415	NM_031263.4(HNRNPK):c.1092+10C>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2756339	NM_031263.4(HNRNPK):c.1092+7T>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2237961	NM_031263.4(HNRNPK):c.1092+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2153934	NM_031263.4(HNRNPK):c.1083T>C (p.Tyr361=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721835	NM_031263.4(HNRNPK):c.1062A>T (p.Pro354=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1708495	NM_031263.4(HNRNPK):c.1048_1051del (p.Asp350fs)	HNRNPK (D326fs +1 more)	Deletion (frameshift variant)	Au-Kline syndrome	GPathogenic
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 1706529	NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)	HNRNPK (S323fs +1 more)	Microsatellite (frameshift variant)	Au-Kline syndrome	GPathogenic
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 503602	NM_002140.4(HNRNPK):c.1009delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 2659281	NM_031263.4(HNRNPK):c.1009-1G>A	HNRNPK	Single nucleotide variant (splice acceptor 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 2085171	NM_031263.4(HNRNPK):c.1009-9C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977375	NM_031263.4(HNRNPK):c.1009-11A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225095	NM_031263.4(HNRNPK):c.1008+62C>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2716602	NM_031263.4(HNRNPK):c.1008+7A>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2901252	NM_031263.4(HNRNPK):c.1002C>T (p.Asp334=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	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 503601	NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)	HNRNPK (Y309* +1 more)	Duplication (nonsense)	Au-Kline syndrome	GPathogenic
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 1690319	NM_031263.4(HNRNPK):c.989G>A (p.Gly330Glu)	HNRNPK (G306E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 725018	NM_031263.4(HNRNPK):c.969T>C (p.Tyr323=)	HNRNPK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012618	NM_031263.4(HNRNPK):c.954-5T>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2839663	NM_031263.4(HNRNPK):c.953+17G>C	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972310	NM_031263.4(HNRNPK):c.953+16dup	HNRNPK	Duplication (intron variant)	not provided	GBenign
Select item 1972171	NM_031263.4(HNRNPK):c.953+17G>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629241	NM_031263.4(HNRNPK):c.953+14T>G	HNRNPK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2894353	NM_031263.4(HNRNPK):c.953+8G>T	HNRNPK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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