399[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	FDCSP, LOC129992677 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 349615	NM_000477.6(ALB):c.-45T>C	ALB, LOC111832671	Single nucleotide variant	Hyperthyroxinemia, 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 18213	NM_000477.5(ALB):c.67C>T (p.Arg23Cys)	ALB (R23C)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 18184	NM_000477.7(ALB):c.68G>A (p.Arg23His)	ALB (R23H)	Single nucleotide variant (missense variant)	PROALBUMIN LILLE	Gother
Select item 18214	NM_000477.5(ALB):c.71G>T (p.Arg24Leu)	ALB (R24L)	Single nucleotide variant (missense variant)	PROALBUMIN JAFFNA	Gother
Select item 18186	NM_000477.5(ALB):c.71G>C (p.Arg24Pro)	ALB (R24P)	Single nucleotide variant (missense variant)	Alloalbuminemia	GPathogenic
Select item 18185	NM_000477.5(ALB):c.71G>A (p.Arg24Gln)	ALB (R24Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, arthrochalasia type	GPathogenic
Select item 18187	NM_000477.7(ALB):c.74A>T (p.Asp25Val)	ALB (D25V)	Single nucleotide variant (missense variant)	Alloalbuminemia	GPathogenic
Select item 18226	NM_000477.7(ALB):c.79C>T (p.His27Tyr)	ALB (H27Y)	Single nucleotide variant (missense variant)	ALBUMIN LARINO	Gother
Select item 18240	NM_000477.7(ALB):c.79+1G>A	ALB	Single nucleotide variant (splice donor variant)	Analbuminemia Baghdad	GPathogenic
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 2780805	NM_000477.7(ALB):c.81C>A (p.His27Gln)	ALB (H27Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18188	NM_000477.7(ALB):c.81C>R (p.His27Gln)	ALB (H27Q)	Single nucleotide variant (missense variant)	ALBUMIN NAGASAKI 3	Gother
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 2906843	NM_000477.7(ALB):c.111T>C (p.Asp37=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 349616	NM_000477.7(ALB):c.137+4A>C	ALB	Single nucleotide variant (intron variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 156314	NM_000477.7(ALB):c.166C>T (p.Gln56Ter)	ALB (Q56*)	Single nucleotide variant (nonsense)	Analbuminemia	GPathogenic
Select item 156319	NM_000477.7(ALB):c.228_229del (p.Val78fs)	ALB (V78fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 18217	NM_000477.7(ALB):c.250G>A (p.Glu84Lys)	ALB (E84K)	Single nucleotide variant (missense variant)	ALBUMIN TORINO	Gother
Select item 18231	NM_000477.7(ALB):c.259G>A (p.Asp87Asn)	ALB (D87N)	Single nucleotide variant (missense variant)	ALBUMIN MALMO-95	Gother
Select item 18239	NM_000477.7(ALB):c.269T>C (p.Leu90Pro)	ALB (L90P)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GPathogenic
Select item 349617	NM_000477.7(ALB):c.271-8C>T	ALB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 3108473	NM_000477.7(ALB):c.275C>A (p.Thr92Asn)	ALB (T92N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 18218	NM_000477.7(ALB):c.316G>A (p.Glu106Lys)	ALB (E106K)	Single nucleotide variant (missense variant)	ALBUMIN VIBO VALENTIA	Gother
Select item 349618	NM_000477.7(ALB):c.323A>G (p.Tyr108Cys)	ALB (Y108C)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GConflicting classifications of pathogenicity
Select item 156320	NM_000477.7(ALB):c.412C>T (p.Arg138Ter)	ALB (R138*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 18189	NM_000477.7(ALB):c.412C>G (p.Arg138Gly)	ALB (R138G)	Single nucleotide variant (missense variant)	ALBUMIN YANOMAMA 2	Gother
Select item 18190	NM_000477.7(ALB):c.427G>A (p.Glu143Lys)	ALB (E143K)	Single nucleotide variant (missense variant)	ALBUMIN NAGOYA	Gother
Select item 156321	NM_000477.7(ALB):c.437T>A (p.Val146Glu)	ALB (V146E)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 18221	NM_000477.7(ALB):c.455A>G (p.His152Arg)	ALB (H152R)	Single nucleotide variant (missense variant)	ALBUMIN KOMAGOME 2	Gother
Select item 18230	NM_000477.7(ALB):c.491A>G (p.Tyr164Cys)	ALB (Y164C)	Single nucleotide variant (missense variant)	ALBUMIN ASOLA	Gother
Select item 349619	NM_000477.7(ALB):c.531A>T (p.Glu177Asp)	ALB (E177D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2204144	NM_000477.7(ALB):c.569C>T (p.Thr190Ile)	ALB (T190I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 156322	NM_000477.7(ALB):c.597T>A (p.Ala199=)	ALB	Single nucleotide variant (synonymous variant)	Analbuminemia	Gnot provided
Select item 18215	NM_000477.7(ALB):c.602G>T (p.Cys201Phe)	ALB (C201F)	Single nucleotide variant (missense variant)	ALBUMIN HAWKES BAY	Gother
Select item 349620	NM_000477.7(ALB):c.612A>G (p.Pro204=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 349621	NM_000477.7(ALB):c.615+14G>T	ALB	Single nucleotide variant (intron variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GBenign
Select item 2988898	NM_000477.7(ALB):c.615+16A>G	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943040	NM_000477.7(ALB):c.615+26del	ALB	Deletion (intron variant)	not provided	GBenign
Select item 349622	NM_000477.7(ALB):c.616-3T>C	ALB	Single nucleotide variant (intron variant)	Hyperthyroxinemia, familial dysalbuminemic +1 more	GBenign
Select item 2975622	NM_000477.7(ALB):c.648G>C (p.Ser216=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2442164	NM_000477.7(ALB):c.656_659del (p.Lys219fs)	ALB (K219fs)	Deletion (frameshift variant)	Analbuminemia	GLikely pathogenic
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 2960404	NM_000477.7(ALB):c.714-14G>A	ALB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 18210	NM_000477.7(ALB):c.714-2A>G	ALB	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 156323	NM_000477.7(ALB):c.714G>A (p.Trp238Ter)	ALB (W238*)	Single nucleotide variant (nonsense)	Analbuminemia	GPathogenic
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 18238	NM_000477.7(ALB):c.725G>C (p.Arg242Pro)	ALB (R242P)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GPathogenic
Select item 18225	NM_000477.7(ALB):c.725G>A (p.Arg242His)	ALB (R242H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 18227	NM_000477.7(ALB):c.745A>C (p.Lys249Gln)	ALB (K249Q)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	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 18223	NM_000477.7(ALB):c.790A>G (p.Lys264Glu)	ALB (K264E)	Single nucleotide variant (missense variant)	ALBUMIN HERBORN	Gother
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 156324	NM_000477.7(ALB):c.802G>T (p.Glu268Ter)	ALB (E268*)	Single nucleotide variant (nonsense)	Analbuminemia	Gnot provided
Select item 2763156	NM_000477.7(ALB):c.807C>T (p.Cys269=)	ALB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783422	NM_000477.7(ALB):c.843+10C>T	ALB	Single nucleotide variant (intron variant)	not provided +1 more	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 18224	NM_000477.7(ALB):c.872dup (p.Asn291fs)	ALB (N291fs)	Duplication (frameshift variant)	Analbuminemia	GPathogenic
Select item 18232	NM_000477.7(ALB):c.875A>G (p.Gln292Arg)	ALB (Q292R)	Single nucleotide variant (missense variant)	ALBUMIN MALMO-10	Gother
Select item 18191	NM_000477.7(ALB):c.878A>G (p.Asp293Gly)	ALB (D293G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 349623	NM_000477.7(ALB):c.891T>C (p.Ser297=)	ALB	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 18228	NM_000477.7(ALB):c.900G>C (p.Lys300Asn)	ALB (K300N)	Single nucleotide variant (missense variant)	ALBUMIN CASERTA	Gother
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 349624	NM_000477.7(ALB):c.913A>G (p.Lys305Glu)	ALB (K305E)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	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 1365904	NM_000477.7(ALB):c.970G>C (p.Ala324Pro)	ALB (A324P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 18192	NM_000477.7(ALB):c.1011G>T (p.Lys337Asn)	ALB (K337N)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
Select item 156307	NM_000477.7(ALB):c.1013A>T (p.Asp338Val)	ALB (D338V)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 156306	NM_000477.7(ALB):c.1013A>G (p.Asp338Gly)	ALB (D338G)	Single nucleotide variant (missense variant)	Alloalbuminemia	Gnot provided
Select item 18233	NM_000477.7(ALB):c.1026C>G (p.Asn342Lys)	ALB (N342K)	Single nucleotide variant (missense variant)	ALBUMIN MALMO-47	Gother
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 18193	NM_000477.7(ALB):c.1030G>A (p.Ala344Thr)	ALB (A344T)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 18194	NM_000477.7(ALB):c.1033G>A (p.Glu345Lys)	ALB (E345K)	Single nucleotide variant (missense variant)	ALBUMIN ROMA	Gother
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 2992741	NM_000477.7(ALB):c.1058+14A>G	ALB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1662799	NM_000477.7(ALB):c.1058+19_1058+21del	ALB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 349625	NM_000477.7(ALB):c.1059-11A>G	ALB	Single nucleotide variant (intron variant)	Hyperthyroxinemia, familial dysalbuminemic	GUncertain significance
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 18234	NM_000477.7(ALB):c.1069G>A (p.Glu357Lys)	ALB (E357K)	Single nucleotide variant (missense variant)	ALBUMIN SONDRIA	Gother
Select item 349626	NM_000477.7(ALB):c.1073A>G (p.Tyr358Cys)	ALB (Y358C)	Single nucleotide variant (missense variant)	Hyperthyroxinemia, familial dysalbuminemic	GLikely benign
Select item 636260	NM_000477.7(ALB):c.1098dup (p.Val367fs)	ALB (V367fs)	Duplication (frameshift variant)	Analbuminemia	GPathogenic
Select item 18195	NM_000477.7(ALB):c.1132G>A (p.Glu378Lys)	ALB (E378K)	Single nucleotide variant (missense variant)	ALBUMIN HIROSHIMA 1	Gother
Select item 18196	NM_000477.7(ALB):c.1144G>A (p.Glu382Lys)	ALB (E382K)	Single nucleotide variant (missense variant)	ALBUMIN COARI I	Gother
Select item 349627	NM_000477.7(ALB):c.1150T>C (p.Cys384Arg)	ALB (C384R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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