ClinVar for Gene (Select 213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348436	NM_000477.7(ALB):c.676A>C (p.Ser226Arg)	ALB (S226R)	Single nucleotide variant (missense variant)	ALB-related disorder	GUncertain significance
Select item 3344578	NM_000477.7(ALB):c.1244A>T (p.Asn415Ile)	ALB (N415I)	Single nucleotide variant (missense variant)	ALB-related disorder	GUncertain significance
Select item 3283263	NM_000477.7(ALB):c.913A>C (p.Lys305Gln)	ALB (K305Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108483	NM_000477.7(ALB):c.956A>G (p.Asn319Ser)	ALB (N319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108473	NM_000477.7(ALB):c.275C>A (p.Thr92Asn)	ALB (T92N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108472	NM_000477.7(ALB):c.1526G>A (p.Arg509Gln)	ALB (R509Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043567	NM_000477.7(ALB):c.1058T>C (p.Met353Thr)	ALB (M353T)	Single nucleotide variant (missense variant)	ALB-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3005547	NM_000477.7(ALB):c.1428+17dup	ALB	Duplication (intron variant)	not provided	GBenign
Select item 2992741	NM_000477.7(ALB):c.1058+14A>G	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988898	NM_000477.7(ALB):c.615+16A>G	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987420	NM_000477.7(ALB):c.563C>T (p.Ala188Val)	ALB (A188V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987199	NM_000477.7(ALB):c.800C>T (p.Thr267Met)	ALB (T267M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975622	NM_000477.7(ALB):c.648G>C (p.Ser216=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967726	NM_000477.7(ALB):c.1785+1G>A	ALB	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2966399	NM_000477.7(ALB):c.1269A>G (p.Gly423=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960404	NM_000477.7(ALB):c.714-14G>A	ALB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2959135	NM_000477.7(ALB):c.1289+15T>C	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919758	NM_000477.7(ALB):c.1251G>A (p.Glu417=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2909396	NM_000477.7(ALB):c.313C>T (p.Arg105Cys)	ALB (R105C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906843	NM_000477.7(ALB):c.111T>C (p.Asp37=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901598	NM_000477.7(ALB):c.1067A>G (p.Tyr356Cys)	ALB (Y356C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883478	NM_000477.7(ALB):c.80A>C (p.His27Pro)	ALB (H27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879507	NM_000477.7(ALB):c.1192-17A>G	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856192	NM_000477.7(ALB):c.1560A>G (p.Thr520=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2835908	NM_000477.7(ALB):c.1207C>A (p.Pro403Thr)	ALB (P403T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807763	NM_000477.7(ALB):c.776T>C (p.Val259Ala)	ALB (V259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788444	NM_000477.7(ALB):c.1378A>T (p.Lys460Ter)	ALB (K460*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2780805	NM_000477.7(ALB):c.81C>A (p.His27Gln)	ALB (H27Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763156	NM_000477.7(ALB):c.807C>T (p.Cys269=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2627896	NM_000477.7(ALB):c.[1030G>A;67C>T]	ALB (A344T +1 more)	Single nucleotide variant (missense variant)	ALBUMIN REDHILL	Gother
Select item 2589128	NM_000477.7(ALB):c.1464T>A (p.His488Gln)	ALB (H488Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442164	NM_000477.7(ALB):c.656_659del (p.Lys219fs)	ALB (K219fs)	Deletion (frameshift variant)	Analbuminemia	GLikely pathogenic
Select item 2420291	NM_000477.7(ALB):c.1225C>A (p.Gln409Lys)	ALB (Q409K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2377475	NM_000477.7(ALB):c.1159G>T (p.Ala387Ser)	ALB (A387S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2259168	NM_000477.7(ALB):c.715G>T (p.Ala239Ser)	ALB (A239S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2204144	NM_000477.7(ALB):c.569C>T (p.Thr190Ile)	ALB (T190I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188930	NM_000477.7(ALB):c.1597T>C (p.Phe533Leu)	ALB (F533L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089553	NM_000477.7(ALB):c.1324G>A (p.Val442Met)	ALB (V442M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052056	NM_000477.7(ALB):c.1701A>G (p.Gln567=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951728	NM_000477.7(ALB):c.1256T>A (p.Phe419Tyr)	ALB (F419Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943040	NM_000477.7(ALB):c.615+26del	ALB	Deletion (intron variant)	not provided	GBenign
Select item 1908921	NM_000477.7(ALB):c.1290-15A>T	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1684642	NC_000004.12:g.67833055_82716065del	LOC129992745, LOC129992746 +330 more	Deletion	See cases	GPathogenic
Select item 1678508	NM_000477.7(ALB):c.896T>C (p.Leu299Pro)	ALB (L299P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662799	NM_000477.7(ALB):c.1058+19_1058+21del	ALB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1599424	NM_000477.7(ALB):c.1314A>G (p.Lys438=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1508846	NM_000477.7(ALB):c.1769C>T (p.Thr590Ile)	ALB (T590I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416088	NM_000477.7(ALB):c.272A>G (p.His91Arg)	ALB (H91R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365904	NM_000477.7(ALB):c.970G>C (p.Ala324Pro)	ALB (A324P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 1098307	NM_000477.7(ALB):c.102_108del	ALB	Deletion (3 prime UTR variant)	Analbuminemia	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 929334	GRCh37/hg19 4q13.3(chr4:74275515-74688555)x3	AFM, AFP +3 more	Copy number gain	See cases	GUncertain significance
Select item 906990	NM_000477.7(ALB):c.1194C>T (p.Phe398=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 906989	NM_000477.7(ALB):c.1193T>C (p.Phe398Ser)	ALB (F398S)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 906988	NM_000477.7(ALB):c.1164A>G (p.Ala388=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 906036	NM_000477.7(ALB):c.*270C>G	ALB	Single nucleotide variant (3 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 906035	NM_000477.7(ALB):c.*209A>G	ALB	Single nucleotide variant (3 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 906034	NM_000477.7(ALB):c.*19C>T	ALB	Single nucleotide variant (3 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GBenign
Select item 905967	NM_000477.7(ALB):c.843+11G>A	ALB	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905528	NM_000477.7(ALB):c.1760A>G (p.Asp587Gly)	ALB (D587G)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 905527	NM_000477.7(ALB):c.1731T>A (p.Ala577=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 905526	NM_000477.7(ALB):c.1706A>G (p.Lys569Arg)	ALB (K569R)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 905525	NM_000477.7(ALB):c.1680G>A (p.Lys560=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 905453	NM_000477.7(ALB):c.648G>A (p.Ser216=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 905452	NM_000477.7(ALB):c.314G>A (p.Arg105His)	ALB (R105H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 904737	NM_000477.7(ALB):c.1438G>A (p.Val480Ile)	ALB (V480I)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 904736	NM_000477.7(ALB):c.1433C>G (p.Ser478Cys)	ALB (S478C)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 904664	NM_000477.7(ALB):c.248C>T (p.Ala83Val)	ALB (A83V)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GBenign
Select item 904663	NM_000477.7(ALB):c.248C>G (p.Ala83Gly)	ALB (A83G)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GUncertain significance
Select item 904662	NM_000477.7(ALB):c.231T>C (p.Cys77=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 904661	NM_000477.7(ALB):c.109G>A (p.Asp37Asn)	ALB (D37N)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 904660	NM_000477.7(ALB):c.-13C>T	ALB, LOC111832671	Single nucleotide variant (5 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GLikely benign
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 783422	NM_000477.7(ALB):c.843+10C>T	ALB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 636260	NM_000477.7(ALB):c.1098dup (p.Val367fs)	ALB (V367fs)	Duplication (frameshift variant)	Analbuminemia	GPathogenic
Select item 562931	GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3	CXCL1, EPGN +15 more	Copy number gain	not provided	GUncertain significance
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 349642	NM_000477.7(ALB):c.*88G>T	ALB	Single nucleotide variant (3 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GLikely benign
Select item 349641	NM_000477.7(ALB):c.*14A>C	ALB	Single nucleotide variant (3 prime UTR variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 349640	NM_000477.7(ALB):c.1785+7C>T	ALB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 349639	NM_000477.7(ALB):c.1668C>T (p.Leu556=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 349638	NM_000477.7(ALB):c.1647A>G (p.Lys549=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 349637	NM_000477.7(ALB):c.1608T>C (p.Asp536=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 349636	NM_000477.7(ALB):c.1508A>T (p.Glu503Val)	ALB (E503V)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 349635	NM_000477.7(ALB):c.1479A>G (p.Val493=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 349634	NM_000477.7(ALB):c.1472C>T (p.Thr491Met)	ALB (T491M)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 349633	NM_000477.7(ALB):c.1446C>T (p.Asn482=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 349632	NM_000477.7(ALB):c.1434C>T (p.Ser478=)	ALB	Single nucleotide variant (synonymous variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GLikely benign

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