"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 439105	NM_000558.3(HBA1):c.-80C>A	HBA1, LOC106804613	Single nucleotide variant	not specified	GUncertain significance
Select item 439104	NM_000558.3(HBA1):c.-77C>G	HBA1, LOC106804613	Single nucleotide variant	not provided	GUncertain significance
Select item 618156	NM_000558.4(HBA1):c.-52C>T	LOC106804613, HBA1	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 439096	NM_000558.5(HBA1):c.-24C>G	HBA1, LOC106804613	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
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 439103	NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	HBA1, LOC106804613 (W15R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 619845	NM_000558.5(HBA1):c.55G>A (p.Gly19Ser)	HBA1, LOC106804613 (G19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330135	NM_000558.5(HBA1):c.62A>C (p.His21Pro)	HBA1, LOC106804613 (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 2681960	NM_000558.5(HBA1):c.69C>T (p.Gly23=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 801167	NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	HBA1, LOC106804613 (R32fs)	Microsatellite (frameshift variant)	alpha Thalassemia +5 more	GPathogenic
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 993069	NM_000558.5(HBA1):c.95+5G>A	LOC106804613, HBA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 994429	NM_000558.5(HBA1):c.95+38C>T	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 439106	NM_000558.5(HBA1):c.95+39C>T	HBA1, LOC106804613	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 801169	NM_000558.5(HBA1):c.96-1G>A	HBA1, LOC106804613	Single nucleotide variant (splice acceptor variant)	HBA1-related condition +6 more	GPathogenic/Likely pathogenic
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 801162	NM_000558.5(HBA1):c.146T>C (p.Leu49Pro)	HBA1, LOC106804613 (L49P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 993066	NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)	HBA1, LOC106804613 (G60R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 619840	NM_000558.5(HBA1):c.178G>A (p.Gly60Ser)	HBA1, LOC106804613 (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15849	NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	LOC106804613, HBA1 (G60D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2681958	NM_000558.5(HBA1):c.181A>C (p.Lys61Gln)	HBA1, LOC106804613 (K61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330144	NM_000558.5(HBA1):c.181AAG[1] (p.Lys62del)	HBA1, LOC106804613 (K62del)	Microsatellite (inframe_deletion)	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 15831	NM_000558.5(HBA1):c.205A>G (p.Asn69Asp)	HBA1, LOC106804613 (N69D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 15732	NM_000558.5(HBA1):c.223G>A (p.Asp75Asn)	HBA1, LOC106804613 (D75N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 619842	NM_000558.5(HBA1):c.237del (p.Asn79fs)	HBA1, LOC106804613 (N79fs)	Deletion (frameshift variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 788899	NM_000558.5(HBA1):c.250C>T (p.Leu84=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	HBA1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 15731	NM_000558.3(HBA1):c.256G>A (p.Asp86Asn)	HBA1, LOC106804613 (D86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809522	NM_000558.5(HBA1):c.264C>G (p.His88Gln)	HBA1, LOC106804613 (H88Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 15820	NM_000558.3(HBA1):c.283G>C (p.Asp95His)	HBA1, LOC106804613 (D95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 15817	NM_000558.3(HBA1):c.287C>G (p.Pro96Arg)	HBA1, LOC106804613 (P96R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2681959	NM_000558.5(HBA1):c.300+42T>C	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 993067	NM_000558.5(HBA1):c.301-31_301-24delinsG	HBA1, LOC106804613	Indel (intron variant)	not provided	GUncertain significance
Select item 439098	NM_000558.5(HBA1):c.301-19G>A	HBA1, LOC106804613	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 439099	NM_000558.5(HBA1):c.332C>T (p.Ala111Val)	HBA1, LOC106804613 (A111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801164	NM_000558.5(HBA1):c.335C>T (p.Ala112Val)	HBA1, LOC106804613 (A112V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 993068	NM_000558.5(HBA1):c.337_351dup (p.His113_Glu117dup)	HBA1, LOC106804613	Duplication (inframe_insertion)	not provided	GUncertain significance
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 15712	NM_000558.3(HBA1):c.344C>G (p.Pro115Arg)	HBA1, LOC106804613 (P115R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439100	NM_000558.5(HBA1):c.353_355dup (p.Phe118_Thr119insIle)	HBA1, LOC106804613	Duplication (inframe_insertion)	not provided	GLikely benign
Select item 811900	NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	LOC106804613, HBA1 (P120S)	Single nucleotide variant (missense variant)	Hemoglobin H disease +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 801165	NM_000558.5(HBA1):c.365T>A (p.Val122Glu)	HBA1, LOC106804613 (V122E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439101	NM_000558.5(HBA1):c.396T>C (p.Ser132=)	HBA1, LOC106804613	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 801166	NM_000558.5(HBA1):c.413C>T (p.Thr138Ile)	HBA1, LOC106804613 (T138I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 993065	NM_000558.5(HBA1):c.*45C>G	HBA1, LOC106804613	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
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 619678	NM_000558.3(HBA1):c.*116del	HBA1, LOC106804613	Deletion	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65