"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439771	NM_000517.6(HBA2):c.369C>G (p.His123Gln)	HBA1, HBA2 +1 more (H123Q)	Single nucleotide variant (missense variant)	Hemoglobin H disease +4 more	GUncertain significance
Select item 15624	NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)	HBA1, HBA2 +1 more	Single nucleotide variant (stop lost)	alpha Thalassemia +1 more	GPathogenic
Select item 618156	NM_000558.4(HBA1):c.-52C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GConflicting classifications of pathogenicity
Select item 439102	NM_000558.5(HBA1):c.-42C>T	HBA1, LOC106804613	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 618154	NM_000558.4(HBA1):c.-41C>G	HBA1, LOC106804613	Single nucleotide variant	not provided	GLikely benign
Select item 439096	NM_000558.5(HBA1):c.-24C>G	LOC106804613, HBA1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 2428673	NM_000558.5(HBA1):c.1A>G (p.Met1Val)	HBA1, LOC106804613 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 15765	NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	HBA1, LOC106804613 (A6D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 812042	NM_000558.5(HBA1):c.19_21del (p.Asp7del)	LOC106804613, HBA1 (D7del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 993656	NM_000558.5(HBA1):c.19G>C (p.Asp7His)	HBA1, LOC106804613 (D7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15822	NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	HBA1, LOC106804613 (D7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15861	NM_000558.5(HBA1):c.24G>C (p.Lys8Asn)	HBA1, LOC106804613 (K8N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811820	NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	HBA1, LOC106804613 (W15*)	Single nucleotide variant (nonsense)	Erythrocytosis, familial, 7 +1 more	GPathogenic
Select item 618155	NM_000558.5(HBA1):c.47G>A (p.Gly16Asp)	HBA1, LOC106804613 (G16D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15746	NM_000558.3(HBA1):c.49A>G (p.Lys17Glu)	HBA1, LOC106804613 (K17E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2428550	NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)	HBA1, LOC106804613 (A22fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1330135	NM_000558.5(HBA1):c.62A>C (p.His21Pro)	LOC106804613, HBA1 (H21P)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 811635	NM_000558.5(HBA1):c.63C>A (p.His21Gln)	HBA1, LOC106804613 (H21Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15742	NM_000558.5(HBA1):c.84G>T (p.Glu28Asp)	HBA1, LOC106804613 (E28D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15794	NM_000558.5(HBA1):c.91G>A (p.Glu31Lys)	HBA1, LOC106804613 (E31K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2681961	NM_000558.5(HBA1):c.95+1G>A	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2428746	NM_000558.5(HBA1):c.95+9C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 994429	NM_000558.5(HBA1):c.95+38C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 801168	NM_000558.5(HBA1):c.95+41G>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920892	NM_000558.5(HBA1):c.96-2A>G	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1330794	NM_000558.5(HBA1):c.98T>A (p.Met33Lys)	LOC106804613, HBA1 (M33K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 15795	NM_000558.5(HBA1):c.104T>G (p.Leu35Arg)	HBA1, LOC106804613 (L35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15783	NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	HBA1, LOC106804613 (P45L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15699	NM_000558.3(HBA1):c.142G>A (p.Asp48Asn)	HBA1, LOC106804613 (D48N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993349	NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)	HBA1, LOC106804613 (S50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15889	NM_000558.3(HBA1):c.154G>A (p.Gly52Ser)	HBA1, LOC106804613 (G52S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15806	NM_000558.3(HBA1):c.154G>C (p.Gly52Arg)	HBA1, LOC106804613 (G52R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15782	NM_000558.5(HBA1):c.163C>G (p.Gln55Glu)	HBA1, LOC106804613 (Q55E)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 15849	NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	HBA1, LOC106804613 (G60D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1330840	NM_000558.5(HBA1):c.186G>T (p.Lys62Asn)	HBA1, LOC106804613 (K62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618153	NM_000558.5(HBA1):c.187del (p.Val63fs)	HBA1, LOC106804613 (V63fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 15803	NM_000558.3(HBA1):c.193G>C (p.Asp65His)	HBA1, LOC106804613 (D65H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811124	NM_000558.5(HBA1):c.198G>A (p.Ala66=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 439095	NM_000558.5(HBA1):c.207C>G (p.Asn69Lys)	HBA1, LOC106804613 (N69K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 801163	NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del)	HBA1, LOC106804613 (D76del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 15733	NM_000558.5(HBA1):c.223G>C (p.Asp75His)	HBA1, LOC106804613 (D75H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15834	NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr)	HBA1, LOC106804613 (D76Y)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2428547	NM_000558.5(HBA1):c.237C>A (p.Asn79Lys)	LOC106804613, HBA1 (N79K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	HBA1-related disorder +6 more	GPathogenic/Likely pathogenic
Select item 1679446	NM_000558.5(HBA1):c.255C>A (p.Ser85Arg)	HBA1, LOC106804613 (S85R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 994421	NM_000558.5(HBA1):c.256G>C (p.Asp86His)	HBA1, LOC106804613 (D86H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15885	NM_000558.3(HBA1):c.270C>G (p.His90Gln)	HBA1, LOC106804613 (H90Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 15759	NM_000558.3(HBA1):c.272A>C (p.Lys91Thr)	HBA1, LOC106804613 (K91T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15707	NM_000558.5(HBA1):c.273G>C (p.Lys91Asn)	HBA1, LOC106804613 (K91N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15879	NM_000558.5(HBA1):c.283_300+3dup	HBA1, LOC106804613	Duplication (splice donor variant)	not provided	GPathogenic
Select item 15730	NM_000558.3(HBA1):c.287C>T (p.Pro96Leu)	HBA1, LOC106804613 (P96L)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 995656	NM_000558.5(HBA1):c.300+1G>T	HBA1, LOC106804613	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 994077	NM_000558.5(HBA1):c.300+47C>A	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439768	NM_000558.5(HBA1):c.300+55G>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 993413	NM_000558.5(HBA1):c.301-49C>T	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 439097	NM_000558.5(HBA1):c.301-17C>A	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1330740	NM_000558.5(HBA1):c.309C>A (p.Ser103Arg)	HBA1, LOC106804613 (S103R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2920937	NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)	HBA1, LOC106804613 (T109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331033	NM_000558.5(HBA1):c.328del (p.Leu110fs)	HBA1, LOC106804613 (L110fs)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1330688	NM_000558.5(HBA1):c.326C>A (p.Thr109Asn)	HBA1, LOC106804613 (T109N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15800	NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)	HBA1, LOC106804613 (A111D)	Single nucleotide variant (missense variant)	not provided +5 more	GLikely pathogenic
Select item 15745	NM_000558.5(HBA1):c.337C>G (p.His113Asp)	HBA1, LOC106804613 (H113D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15829	NM_000558.3(HBA1):c.341T>A (p.Leu114His)	HBA1, LOC106804613 (L114H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15793	NM_000558.3(HBA1):c.349G>A (p.Glu117Lys)	HBA1, LOC106804613 (E117K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 15832	NM_000558.5(HBA1):c.350A>C (p.Glu117Ala)	HBA1, LOC106804613 (E117A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	HBA1, LOC106804613 (P120S)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 15750	NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)	HBA1, LOC106804613 (A121E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 15798	NM_000558.5(HBA1):c.364G>A (p.Val122Met)	HBA1, LOC106804613 (V122M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 15865	NM_000558.3(HBA1):c.389T>C (p.Leu130Pro)	HBA1, LOC106804613 (L130P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	LOC106804613, HBA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428618	NM_000558.5(HBA1):c.397G>A (p.Val133Met)	HBA1, LOC106804613 (V133M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 993935	NM_000558.5(HBA1):c.416C>G (p.Ser139Cys)	HBA1, LOC106804613 (S139C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428629	NM_000558.5(HBA1):c.417C>G (p.Ser139=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 439094	NM_000558.5(HBA1):c.*46C>A	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 811573	NC_000016.10:g.177694A>G	HBA1	Single nucleotide variant	not provided	GBenign

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Items: 77