ClinVar for MedGen (Select 82799) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572647	NM_000039.3(APOA1):c.126C>G (p.Tyr42Ter)	APOA1, APOA1-AS (Y42*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type	GLikely pathogenic
Select item 1803153	NM_021871.4(FGA):c.713del (p.Lys238fs)	FGA (K238fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GPathogenic/Likely pathogenic
Select item 1709728	NM_021871.4(FGA):c.1120A>G (p.Thr374Ala)	FGA (T374A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 1638941	NM_000039.3(APOA1):c.200+19G>A	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +4 more	GBenign/Likely benign
Select item 1636638	NM_004048.4(B2M):c.68-13C>T	B2M	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 1609652	NM_000039.3(APOA1):c.555G>C (p.Thr185=)	APOA1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 1590899	NM_000039.3(APOA1):c.726G>C (p.Leu242=)	APOA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1578487	NM_004048.4(B2M):c.67+12C>T	B2M	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +1 more	GLikely benign
Select item 1576283	NM_000039.3(APOA1):c.315C>T (p.Gly105=)	APOA1-AS, APOA1	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1558254	NM_004048.4(B2M):c.67+19C>T	B2M	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign/Likely benign
Select item 1531260	NM_000039.3(APOA1):c.126C>T (p.Tyr42=)	APOA1, APOA1-AS	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1513939	NM_000039.3(APOA1):c.271G>T (p.Val91Leu)	APOA1, APOA1-AS (V91L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1501391	NM_000039.3(APOA1):c.127G>A (p.Val43Met)	APOA1, APOA1-AS (V43M)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 2 +4 more	GUncertain significance
Select item 1461988	NM_000039.3(APOA1):c.379G>A (p.Asp127Asn)	APOA1, APOA1-AS (D18N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GUncertain significance
Select item 1408274	NM_004048.4(B2M):c.278C>A (p.Thr93Asn)	B2M (T93N)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 1399008	NM_004048.4(B2M):c.340A>C (p.Lys114Gln)	B2M (K114Q)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 1338197	NM_000039.3(APOA1):c.80C>A (p.Pro27His)	APOA1, APOA1-AS (P27H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 1338132	NM_000239.3(LYZ):c.175C>T (p.Arg59Ter)	LYZ (R59*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 1337976	NM_000239.3(LYZ):c.209C>G (p.Thr70Ser)	LYZ (T70S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1333679	NM_021871.4(FGA):c.1690_1699dup (p.Ile567fs)	FGA (I567fs)	Duplication (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GLikely pathogenic
Select item 1322896	NM_021871.4(FGA):c.364+1G>A	FGA	Single nucleotide variant (splice donor variant)	Congenital afibrinogenemia +2 more	GLikely pathogenic
Select item 1301542	NM_000508.5(FGA):c.2350C>T (p.Gln784Ter)	FGA (Q784*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +2 more	GUncertain significance
Select item 1251605	NM_000039.3(APOA1):c.200+33T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	Familial visceral amyloidosis, Ostertag type +3 more	GBenign
Select item 1225953	NM_000039.3(APOA1):c.43+41T>C	APOA1, APOA1-AS	Single nucleotide variant (intron variant)	Hypoalphalipoproteinemia, primary, 2, intermediate +3 more	GBenign
Select item 1217233	NM_000039.3(APOA1):c.564C>G (p.Ala188=)	APOA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 2, intermediate +5 more	GBenign/Likely benign
Select item 1048547	NM_004048.4(B2M):c.154_155delinsTT (p.Pro52Leu)	B2M (P52L)	Indel (missense variant)	Hypoproteinemia, hypercatabolic	GUncertain significance
Select item 1035565	NM_021871.4(FGA):c.8C>T (p.Ser3Phe)	FGA (S3F)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +3 more	GUncertain significance
Select item 974708	NM_021871.4(FGA):c.215G>A (p.Gly72Glu)	FGA (G72E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 932910	NM_021871.4(FGA):c.1615G>A (p.Glu539Lys)	FGA (E539K)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 902974	NM_021871.4(FGA):c.1912G>A (p.Gly638Arg)	FGA (G638R)	Single nucleotide variant (missense variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 902973	NM_021871.4(FGA):c.1918C>G (p.Pro640Ala)	FGA (P640A)	Single nucleotide variant (missense variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 902153	NM_021871.4(FGA):c.1025G>A (p.Gly342Glu)	FGA (G342E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 902097	NM_021871.4(FGA):c.*133G>A	FGA	Single nucleotide variant (3 prime UTR variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 900538	NM_021871.4(FGA):c.181-14C>T	FGA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 900484	NM_021871.4(FGA):c.1072G>A (p.Gly358Arg)	FGA (G358R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 900483	NM_021871.4(FGA):c.1207G>A (p.Ala403Thr)	FGA (A403T)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 900380	NM_021871.4(FGA):c.1718G>A (p.Arg573His)	FGA (R573H)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 883745	NM_000239.3(LYZ):c.*891G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 883744	NM_000239.3(LYZ):c.*866C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 883743	NM_000239.3(LYZ):c.*771A>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 883695	NM_000239.3(LYZ):c.*122A>G	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 883694	NM_000239.3(LYZ):c.272C>G (p.Ala91Gly)	LYZ (A91G)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GLikely benign
Select item 882951	NM_000239.3(LYZ):c.*608T>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 882950	NM_000239.3(LYZ):c.*565G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 882949	NM_000239.3(LYZ):c.*544C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 882899	NM_000239.3(LYZ):c.151A>T (p.Lys51Ter)	LYZ (K51*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 882898	NM_000239.3(LYZ):c.10C>G (p.Leu4Val)	LYZ (L4V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GBenign
Select item 881800	NM_000239.3(LYZ):c.*426C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881799	NM_000239.3(LYZ):c.*413G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 881798	NM_000239.3(LYZ):c.*404G>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881355	NM_000239.3(LYZ):c.*309G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881354	NM_000239.3(LYZ):c.*300C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881353	NM_000239.3(LYZ):c.*266G>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 881352	NM_000239.3(LYZ):c.*266G>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 880419	NM_000039.3(APOA1):c.127G>C (p.Val43Leu)	APOA1, APOA1-AS (V43L)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GLikely benign
Select item 879223	NM_000039.3(APOA1):c.178T>G (p.Ser60Ala)	APOA1, APOA1-AS (S60A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 879222	NM_000039.3(APOA1):c.447G>A (p.Glu149=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 878622	NM_000039.3(APOA1):c.677C>T (p.Thr226Met)	APOA1 (T117M +1 more)	Single nucleotide variant (missense variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 877657	NM_000039.3(APOA1):c.-29G>A	APOA1, APOA1-AS	Single nucleotide variant (5 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 877609	NM_000039.3(APOA1):c.705C>G (p.Leu235=)	APOA1	Single nucleotide variant (synonymous variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GUncertain significance
Select item 877608	NM_000039.3(APOA1):c.*17C>T	APOA1	Single nucleotide variant (3 prime UTR variant)	Hypoalphalipoproteinemia, primary, 1 +1 more	GLikely benign
Select item 802095	NM_021871.4(FGA):c.1621G>C (p.Val541Leu)	FGA (V541L)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 802094	NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)	FGA	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 783429	NM_021871.4(FGA):c.300G>A (p.Lys100=)	FGA	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 783428	NM_021871.4(FGA):c.1366A>G (p.Thr456Ala)	FGA (T456A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 757032	NM_000039.3(APOA1):c.483G>C (p.Leu161=)	APOA1, APOA1-AS	Single nucleotide variant (non-coding transcript variant +1 more)	Familial visceral amyloidosis, Ostertag type +4 more	GLikely benign
Select item 756297	NM_021871.4(FGA):c.1560C>T (p.Phe520=)	FGA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 722403	NM_000239.3(LYZ):c.434G>A (p.Gly145Asp)	LYZ (G145D)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 708395	NM_021871.4(FGA):c.780G>A (p.Glu260=)	FGA	Single nucleotide variant (synonymous variant)	Congenital afibrinogenemia +4 more	GBenign/Likely benign
Select item 693992	NM_021871.4(FGA):c.1760C>G (p.Thr587Arg)	FGA (T587R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 636899	NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del)	APOA1-AS, APOA1 (K131del +1 more)	Microsatellite (inframe_deletion +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 632642	NM_000039.3(APOA1):c.41C>T (p.Thr14Met)	APOA1, APOA1-AS (T14M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 632435	NM_021871.4(FGA):c.532C>T (p.Arg178Ter)	FGA (R178*)	Single nucleotide variant (nonsense)	Familial visceral amyloidosis, Ostertag type +3 more	GPathogenic/Likely pathogenic
Select item 631690	NM_000239.3(LYZ):c.86del (p.Thr29fs)	LYZ (T29fs)	Deletion (frameshift variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 627406	NM_021871.4(FGA):c.922C>T (p.Arg308Ter)	FGA (R308*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 565272	NM_000039.3(APOA1):c.532_533dup (p.His179fs)	APOA1 (H179fs +1 more)	Microsatellite (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 402230	NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	FGA (R168*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 347824	NM_021871.3(FGA):c.-58A>G	FGA	Single nucleotide variant	Congenital afibrinogenemia +2 more	GBenign
Select item 347823	NM_021871.4(FGA):c.16A>G (p.Ile6Val)	FGA (I6V)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GBenign
Select item 347822	NM_021871.4(FGA):c.244A>C (p.Thr82Pro)	FGA (T82P)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 347821	NM_021871.4(FGA):c.346G>A (p.Asp116Asn)	FGA (D116N)	Single nucleotide variant (missense variant)	Congenital afibrinogenemia +3 more	GUncertain significance
Select item 347820	NM_021871.4(FGA):c.450G>A (p.Gln150=)	FGA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 347819	NM_021871.4(FGA):c.614A>G (p.Glu205Gly)	FGA (E205G)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 347818	NM_021871.4(FGA):c.616C>G (p.Gln206Glu)	FGA (Q206E)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 347817	NM_021871.4(FGA):c.666A>T (p.Pro222=)	FGA	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 347816	NM_021871.4(FGA):c.765G>A (p.Pro255=)	FGA	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 347815	NM_021871.4(FGA):c.822C>T (p.Ser274=)	FGA	Single nucleotide variant (synonymous variant)	Familial visceral amyloidosis, Ostertag type +1 more	GUncertain significance
Select item 347814	NM_021871.4(FGA):c.904C>G (p.Pro302Ala)	FGA (P302A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +3 more	GBenign/Likely benign
Select item 347813	NM_021871.4(FGA):c.919A>G (p.Asn307Asp)	FGA (N307D)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GUncertain significance
Select item 347812	NM_021871.4(FGA):c.1199C>T (p.Ser400Phe)	FGA (S400F)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GBenign/Likely benign
Select item 347811	NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)	FGA (D473N)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 347810	NM_021871.4(FGA):c.1444G>A (p.Val482Met)	FGA (V482M)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GLikely benign
Select item 347809	NM_021871.4(FGA):c.1542T>C (p.Pro514=)	FGA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 347808	NM_021871.4(FGA):c.1823G>C (p.Gly608Ala)	FGA (G608A)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 347807	NM_021871.4(FGA):c.1838A>G (p.His613Arg)	FGA (H613R)	Single nucleotide variant (missense variant)	Familial visceral amyloidosis, Ostertag type +2 more	GConflicting classifications of pathogenicity
Select item 347806	NM_021871.4(FGA):c.*50T>G	FGA	Single nucleotide variant (3 prime UTR variant +1 more)	Familial visceral amyloidosis, Ostertag type +1 more	GConflicting classifications of pathogenicity
Select item 310355	NM_000239.3(LYZ):c.*890T>C	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310354	NM_000239.3(LYZ):c.*835C>T	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GBenign
Select item 310353	NM_000239.3(LYZ):c.*814C>A	LYZ	Single nucleotide variant (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GUncertain significance
Select item 310352	NM_000239.3(LYZ):c.*735del	LYZ	Deletion (3 prime UTR variant)	Familial visceral amyloidosis, Ostertag type	GLikely benign

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