"ALPK3-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 429934	NM_020778.4(ALPK3):c.9G>A (p.Val3=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GBenign/Likely benign
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 726266	NM_020778.4(ALPK3):c.192C>A (p.Cys64Ter)	ALPK3 (C64*)	Single nucleotide variant (nonsense)	ALPK3-related disorder +2 more	GBenign/Likely benign
Select item 1918764	NM_020778.4(ALPK3):c.325T>C (p.Cys109Arg)	ALPK3 (C109R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 422750	NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)	ALPK3	Microsatellite (frameshift variant)	ALPK3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1756509	NM_020778.5(ALPK3):c.93C>T (p.Ile31=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 384681	NM_020778.5(ALPK3):c.104C>T (p.Ala35Val)	ALPK3 (A237V +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
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 507232	NM_020778.5(ALPK3):c.135C>T (p.Pro45=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 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 1040573	NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)	ALPK3 (R86W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 391490	NM_020778.5(ALPK3):c.297C>A (p.Ile99=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1588122	NM_020778.5(ALPK3):c.387T>C (p.Thr129=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
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 389853	NM_020778.5(ALPK3):c.407C>T (p.Thr136Ile)	ALPK3 (T338I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 389628	NM_020778.5(ALPK3):c.884A>G (p.Tyr295Cys)	ALPK3 (Y497C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 3031740	NM_020778.5(ALPK3):c.1014C>T (p.Ser338=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder	GLikely benign
Select item 389626	NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys)	ALPK3 (R541C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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 1605784	NM_020778.5(ALPK3):c.1383C>T (p.Gly461=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1621149	NM_020778.5(ALPK3):c.1408T>C (p.Leu470=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1204046	NM_020778.5(ALPK3):c.1422G>A (p.Pro474=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely 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 384731	NM_020778.5(ALPK3):c.1676C>T (p.Thr559Met)	ALPK3 (T761M +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 1542301	NM_020778.5(ALPK3):c.2130G>A (p.Thr710=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 1602769	NM_020778.5(ALPK3):c.2251C>T (p.Leu751=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 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 1428741	NM_020778.5(ALPK3):c.2451A>G (p.Arg817=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 392063	NM_020778.5(ALPK3):c.2469A>G (p.Ser823=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 432747	NM_020778.5(ALPK3):c.2747T>C (p.Leu916Pro)	ALPK3 (L1118P +1 more)	Single nucleotide variant (missense variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 668506	NM_020778.5(ALPK3):c.2808C>T (p.Cys936=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
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 1207116	NM_020778.5(ALPK3):c.2964C>T (p.Thr988=)	ALPK3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 3031829	NM_020778.5(ALPK3):c.3096G>A (p.Leu1032=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder	GLikely benign
Select item 488984	NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)	ALPK3 (R1261* +1 more)	Single nucleotide variant (nonsense)	Cardiomyopathy, familial hypertrophic 27 +4 more	GPathogenic
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 512062	NM_020778.5(ALPK3):c.3354G>A (p.Ala1118=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely 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 387497	NM_020778.5(ALPK3):c.3531C>T (p.Asp1177=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely 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 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 1209454	NM_020778.5(ALPK3):c.4023C>T (p.Cys1341=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 389762	NM_020778.5(ALPK3):c.4063G>A (p.Ala1355Thr)	ALPK3 (A1557T +1 more)	Single nucleotide variant (missense variant)	not specified +3 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)	not specified +4 more	GBenign/Likely benign
Select item 1181095	NM_020778.5(ALPK3):c.4071C>T (p.Thr1357=)	ALPK3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 2631731	NM_020778.5(ALPK3):c.4299_4321dup (p.Thr1441fs)	ALPK3 (T1441fs)	Duplication (frameshift variant)	ALPK3-related disorder	GLikely pathogenic
Select item 510276	NM_020778.5(ALPK3):c.4308C>T (p.Phe1436=)	ALPK3	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 1590700	NM_020778.5(ALPK3):c.4323G>T (p.Thr1441=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GLikely benign
Select item 2889227	NM_020778.5(ALPK3):c.4499+9G>A	ALPK3	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 669239	NM_020778.5(ALPK3):c.4723+8G>C	ALPK3	Single nucleotide variant (intron variant)	ALPK3-related disorder +1 more	GLikely benign
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 509688	NM_020778.5(ALPK3):c.5091G>A (p.Glu1697=)	ALPK3	Single nucleotide variant (synonymous variant)	ALPK3-related disorder +2 more	GBenign/Likely 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: 77