ClinVar for MedGen (Select 1648325) - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065778	NM_020778.5(ALPK3):c.775C>T (p.Gln259Ter)	ALPK3 (Q259*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 3065295	NM_020778.5(ALPK3):c.4144G>T (p.Glu1382Ter)	ALPK3 (E1382*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 3062335	NM_020778.5(ALPK3):c.3842G>C (p.Arg1281Pro)	ALPK3 (R1281P)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2664924	NM_020778.5(ALPK3):c.3609dup (p.Ser1204fs)	ALPK3 (S1204fs)	Duplication (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2573096	NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)	ALPK3 (D146fs)	Duplication (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2572503	NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)	ALPK3 (Q231*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2572382	NM_020778.5(ALPK3):c.3409_3436del (p.Pro1137fs)	ALPK3 (P1137fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2563959	NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)	ALPK3, LOC111718493 (P498S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
Select item 2563940	NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)	ALPK3 (Q1258*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 2504181	NM_020778.5(ALPK3):c.4057G>C (p.Gly1353Arg)	ALPK3 (G1353R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441228	NM_020778.5(ALPK3):c.182+1G>T	ALPK3	Single nucleotide variant (splice donor variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2439003	NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)	ALPK3 (E1158K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2439002	NM_020778.5(ALPK3):c.2198G>A (p.Gly733Asp)	ALPK3 (G733D)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2439001	NM_020778.5(ALPK3):c.3748G>A (p.Glu1250Lys)	ALPK3 (E1250K)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 2429742	NM_020778.5(ALPK3):c.4689G>A (p.Trp1563Ter)	ALPK3 (W1563*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 2428548	NM_020778.5(ALPK3):c.1126C>T (p.Arg376Trp)	ALPK3 (R376W)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 1806164	NM_020778.5(ALPK3):c.4130-4T>G	ALPK3	Single nucleotide variant (intron variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 1805949	NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)	ALPK3 (D93N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805455	NM_020778.5(ALPK3):c.831C>A (p.Asn277Lys)	ALPK3 (N277K)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 1805404	NM_020778.5(ALPK3):c.1582C>T (p.Pro528Ser)	ALPK3, LOC111718493 (P528S)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27	GUncertain significance
Select item 1805250	NM_020778.5(ALPK3):c.1103_1113del (p.Thr368fs)	ALPK3 (T368fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1804923	NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)	ALPK3 (T1190M)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1801823	NM_020778.5(ALPK3):c.926_927del (p.Lys309fs)	ALPK3 (K309fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1797305	NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)	ALPK3 (G762R)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1774197	NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)	ALPK3 (L302M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1768160	NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)	ALPK3 (P124Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
Select item 1748650	NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)	ALPK3 (S1670N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1745555	NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)	ALPK3 (R1509W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1742130	NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)	ALPK3 (C1346Y)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1705567	NM_020778.5(ALPK3):c.3691G>T (p.Glu1231Ter)	ALPK3 (E1231* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1699145	NM_020778.5(ALPK3):c.3381del (p.Ser1129fs)	ALPK3 (S1129fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 1526110	NM_020778.5(ALPK3):c.4199del (p.Asp1400fs)	ALPK3 (D1400fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1526097	NM_020778.5(ALPK3):c.3635_3636del (p.Arg1212fs)	ALPK3 (R1212fs)	Microsatellite (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1519831	NM_020778.5(ALPK3):c.4499+2dup	ALPK3	Duplication (splice donor variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GConflicting classifications of pathogenicity
Select item 1503713	NM_020778.5(ALPK3):c.2391C>A (p.Asn797Lys)	ALPK3 (N797K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1466579	NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn)	ALPK3 (D589N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1442895	NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser)	ALPK3 (P52S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1425870	NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys)	ALPK3 (S1395C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414127	NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter)	ALPK3 (R1114*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1408826	NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln)	ALPK3 (R1194Q)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1385771	NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu)	ALPK3 (D1400E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1379292	NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?)	ALPK3	Deletion (frameshift variant)	not provided +2 more	GUncertain significance
Select item 1342709	NM_020778.5(ALPK3):c.297del (p.Ile99fs)	ALPK3 (I99fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GPathogenic/Likely pathogenic
Select item 1329658	NM_020778.5(ALPK3):c.515T>G (p.Met172Arg)	ALPK3 (M172R)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
Select item 1323072	NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs)	ALPK3 (S824fs)	Indel (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 1299516	NM_020778.5(ALPK3):c.1501del (p.Ser501fs)	ALPK3, LOC111718493 (S501fs)	Deletion (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 1254300	NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys)	ALPK3 (M661K)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1223862	NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu)	ALPK3 (P1628L)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +2 more	GUncertain significance
Select item 1206639	NM_020778.5(ALPK3):c.2205A>G (p.Pro735=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1200170	NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg)	ALPK3 (G1431R)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +1 more	GUncertain significance
Select item 1193750	NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu)	ALPK3 (G313E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1193213	NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His)	ALPK3 (R1013H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1190103	NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro)	ALPK3 (S59P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1040573	NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)	ALPK3 (R86W)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GUncertain significance
Select item 1028192	NM_020778.5(ALPK3):c.322G>A (p.Val108Met)	ALPK3 (V108M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1028191	NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter)	ALPK3 (Q305*)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 993027	NM_020778.4(ALPK3):c.5019del	ALPK3	Deletion	Cardiomyopathy, familial hypertrophic 27	GLikely pathogenic
Select item 689738	NM_020778.5(ALPK3):c.2470dup (p.Ser824fs)	ALPK3 (S824fs)	Duplication (frameshift variant)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 682812	NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp)	ALPK3 (G663D +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +3 more	GBenign/Likely benign
Select item 648292	NM_020778.5(ALPK3):c.2237del (p.Gly746fs)	ALPK3 (G746fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 636490	NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	ALPK3 (R1194fs)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 636381	NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter)	ALPK3 (R1614* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 620214	NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter)	ALPK3 (R1792* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 548941	NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter)	ALPK3 (W1264* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27	GPathogenic
Select item 548940	NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter)	ALPK3 (W1765* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 548939	NM_020778.5(ALPK3):c.4130-1G>A	ALPK3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 515846	NM_020778.5(ALPK3):c.1336C>A (p.Pro446Thr)	ALPK3 (P648T +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GBenign/Likely benign
Select item 509043	NM_020778.5(ALPK3):c.3624A>G (p.Pro1208=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 488984	NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	ALPK3 (R1261* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +4 more	GPathogenic
Select item 432441	NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala)	ALPK3 (T303A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 426693	NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp)	ALPK3 (R1480W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 424287	NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg)	ALPK3 (K1685R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 423316	NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp)	ALPK3 (E929D +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GConflicting classifications of pathogenicity
Select item 389639	NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)	ALPK3, LOC111718493 (C710G +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 389626	NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys)	ALPK3 (R541C +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +3 more	GUncertain significance
Select item 386370	NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)	ALPK3 (E1013K +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign
Select item 386369	NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)	ALPK3 (Q928R +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign
Select item 386363	NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg)	ALPK3 (Q1323R +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 386361	NM_020778.5(ALPK3):c.401G>A (p.Arg134His)	ALPK3 (R336H +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 384821	NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp)	ALPK3 (A1557D +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 384735	NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg)	ALPK3 (Q602R +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign/Likely benign
Select item 384731	NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met)	ALPK3 (T761M +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign
Select item 384681	NM_020778.5(ALPK3):c.104C>T (p.Ala35Val)	ALPK3 (A237V +1 more)	Single nucleotide variant (missense variant)	ALPK3-related condition +4 more	GBenign
Select item 384680	NM_020778.4(ALPK3):c.194A>G (p.His65Arg)	ALPK3	Single nucleotide variant (missense variant)	Cardiomyopathy, familial hypertrophic 27 +3 more	GBenign
Select item 384678	NM_020778.5(ALPK3):c.2811C>G (p.Ala937=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related condition +4 more	GBenign
Select item 383786	NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp)	ALPK3 (R1412W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign

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Items: 86