"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382155	NM_020778.4(ALPK3):c.24T>C (p.Tyr8=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 386372	NM_020778.4(ALPK3):c.175C>G (p.Arg59Gly)	ALPK3	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1284568	NM_020778.4(ALPK3):c.242C>T (p.Thr81Met)	ALPK3 (T81M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1191731	NM_020778.5(ALPK3):c.62G>T (p.Gly21Val)	ALPK3 (G21V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 506377	NM_020778.5(ALPK3):c.123C>T (p.Leu41=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 421545	NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln)	ALPK3 (R255Q +1 more)	Single nucleotide variant (missense variant)	ALPK3-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 379361	NM_020778.5(ALPK3):c.305-18C>A	ALPK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 386361	NM_020778.5(ALPK3):c.401G>A (p.Arg134His)	ALPK3 (R336H +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 421290	NM_020778.5(ALPK3):c.423-19del	ALPK3	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1218272	NM_020778.5(ALPK3):c.624G>C (p.Gly208=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 382154	NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser)	ALPK3 (T414S +1 more)	Single nucleotide variant (missense variant)	ALPK3-related disorder +3 more	GBenign/Likely benign
Select item 1284845	NM_020778.5(ALPK3):c.702C>A (p.Gly234=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 1284617	NM_020778.5(ALPK3):c.726T>C (p.Pro242=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 1202003	NM_020778.5(ALPK3):c.940G>A (p.Ala314Thr)	ALPK3 (A314T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 681475	NM_020778.5(ALPK3):c.948G>A (p.Lys316=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 384685	NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu)	ALPK3 (G579E +1 more)	Single nucleotide variant (missense variant)	not specified +3 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)	not specified +4 more	GBenign/Likely benign
Select item 383784	NM_020778.5(ALPK3):c.1329G>A (p.Gly443=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 682812	NM_020778.5(ALPK3):c.1382G>A (p.Gly461Asp)	ALPK3 (G663D +1 more)	Single nucleotide variant (missense variant)	ALPK3-related disorder +3 more	GBenign/Likely benign
Select item 389639	NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)	ALPK3, LOC111718493 (C710G +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 392012	NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg)	ALPK3 (M765R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386369	NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg)	ALPK3 (Q928R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 506498	NM_020778.5(ALPK3):c.2223C>T (p.Leu741=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 679384	NM_020778.5(ALPK3):c.2262A>G (p.Glu754=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 389381	NM_020778.5(ALPK3):c.2367T>C (p.Thr789=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 386370	NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys)	ALPK3 (E1013K +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 390153	NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)	ALPK3 (G1017E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386524	NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser)	ALPK3 (P1046S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 388137	NM_020778.5(ALPK3):c.2595C>T (p.Pro865=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 506582	NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met)	ALPK3 (T1068M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 384678	NM_020778.5(ALPK3):c.2811C>G (p.Ala937=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 452454	NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln)	ALPK3 (R1211Q +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1175028	NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys)	ALPK3 (R1013C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 383785	NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu)	ALPK3 (P1299L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1299943	NM_020778.5(ALPK3):c.3315C>T (p.Ala1105=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 386363	NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg)	ALPK3 (Q1323R +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 506810	NM_020778.5(ALPK3):c.3401C>T (p.Ala1134Val)	ALPK3 (A1336V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 384674	NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1202136	NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val)	ALPK3 (A1163V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1206005	NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)	ALPK3 (R1228W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 512071	NM_020778.5(ALPK3):c.3702G>A (p.Ala1234=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 384683	NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 384675	NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 506399	NM_020778.5(ALPK3):c.4056C>T (p.His1352=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 384821	NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp)	ALPK3 (A1557D +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 548939	NM_020778.5(ALPK3):c.4130-1G>A	ALPK3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 384691	NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro)	ALPK3 (L1622P +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1196581	NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro)	ALPK3 (L1603P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1284849	NM_020778.5(ALPK3):c.4899C>T (p.Pro1633=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174827	NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter)	ALPK3 (K1641*)	Duplication (nonsense)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 508472	NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val)	ALPK3 (A1873V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 682151	NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 384676	NM_020778.5(ALPK3):c.*5C>T	ALPK3	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign

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Items: 54