ClinVar for MedGen (Select 900671) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233829	NM_031263.4(HNRNPK):c.66_95del (p.Pro23_Ala32del)	HNRNPK	Deletion (inframe_deletion)	Au-Kline syndrome	GLikely pathogenic
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 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 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 2672243	NM_031263.4(HNRNPK):c.709G>A (p.Gly237Ser)	HNRNPK, HNRNPK-AS1 (G213S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 2500862	NM_031263.4(HNRNPK):c.214-6A>G	HNRNPK, HNRNPK-AS1	Single nucleotide variant (intron variant)	Au-Kline syndrome	GUncertain significance
Select item 2444445	NM_031263.4(HNRNPK):c.886C>T (p.Arg296Ter)	HNRNPK (R272* +1 more)	Single nucleotide variant (nonsense)	not provided +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 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 1806157	NM_031263.4(HNRNPK):c.213+2dup	HNRNPK	Duplication (splice donor variant)	Au-Kline syndrome	GLikely pathogenic
Select item 1805748	NM_031263.4(HNRNPK):c.440T>A (p.Leu147Ter)	HNRNPK-AS1, HNRNPK (L123* +1 more)	Single nucleotide variant (nonsense)	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 1712584	NM_031263.4(HNRNPK):c.1198G>A (p.Gly400Arg)	HNRNPK (G376R +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome +1 more	GUncertain significance
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 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 1706529	NM_031263.4(HNRNPK):c.1040_1041del (p.Ser347fs)	HNRNPK (S323fs +1 more)	Microsatellite (frameshift variant)	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 1700212	NM_031263.4(HNRNPK):c.1109-3C>G	HNRNPK	Single nucleotide variant (intron variant)	Au-Kline syndrome	GLikely pathogenic
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 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 1527963	NM_031263.4(HNRNPK):c.203T>C (p.Leu68Pro)	HNRNPK (L68P)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
Select item 1437055	NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser)	ATP7A (C391S)	Single nucleotide variant (missense variant)	Au-Kline syndrome +3 more	GUncertain significance
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 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 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 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 1228436	NM_031263.4(HNRNPK):c.779G>A (p.Gly260Asp)	HNRNPK (G236D +1 more)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GUncertain significance
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 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 931166	NM_031263.4(HNRNPK):c.1192-14_1192-2del	HNRNPK	Deletion (splice acceptor variant)	Au-Kline syndrome	GPathogenic
Select item 818201	NM_031263.4(HNRNPK):c.673T>C (p.Tyr225His)	HNRNPK, HNRNPK-AS1 (Y201H +1 more)	Single nucleotide variant (missense variant)	not provided +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 804254	NM_031263.4(HNRNPK):c.203T>G (p.Leu68Arg)	HNRNPK (L68R)	Single nucleotide variant (missense variant)	Au-Kline syndrome	GLikely pathogenic
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 666583	NM_031263.4(HNRNPK):c.140_143delinsATCA (p.Ile47_Leu48delinsAsnGln)	HNRNPK	Indel (missense variant)	Au-Kline syndrome	GLikely pathogenic
Select item 625163	NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)	HNRNPK, HNRNPK-AS1 (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 503604	NM_002140.4(HNRNPK):c.1094delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 503603	NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)	HNRNPK (R287* +1 more)	Single nucleotide variant (nonsense)	Au-Kline syndrome +1 more	GPathogenic
Select item 503602	NM_002140.4(HNRNPK):c.1009delG	HNRNPK	Deletion	Au-Kline syndrome	GPathogenic
Select item 503601	NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)	HNRNPK (Y309* +1 more)	Duplication (nonsense)	Au-Kline syndrome	GPathogenic
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 449308	NM_031263.4(HNRNPK):c.1008+1G>A	HNRNPK	Single nucleotide variant (splice donor variant)	Au-Kline syndrome +1 more	GPathogenic
Select item 280639	NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer)	HNRNPK	Duplication (frameshift variant)	Au-Kline syndrome +1 more	GPathogenic
Select item 221225	NM_031263.4(HNRNPK):c.931_932insTT (p.Pro311fs)	HNRNPK (P287fs +1 more)	Insertion (frameshift variant)	Au-Kline syndrome	GPathogenic
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 212775	NM_031263.4(HNRNPK):c.953+1dup	HNRNPK	Duplication (splice donor variant)	Au-Kline syndrome	GPathogenic
Select item 2225	NM_000551.4(VHL):c.562C>G (p.Leu188Val)	LOC107303340, VHL (L188V +1 more)	Single nucleotide variant (missense variant +1 more)	Au-Kline syndrome +4 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 56