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

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25104	NM_001370658.1(BTD):c.-94C>T	BTD	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 1895	NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	BTD (C13fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1330058	NM_001370658.1(BTD):c.64G>C (p.Ala22Pro)	BTD (A22P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 24973	NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)	BTD (G25R)	Single nucleotide variant (missense variant)	BTD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 189072	NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)	BTD (L49fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 528480	NM_001370658.1(BTD):c.142A>G (p.Ile48Val)	BTD (I48V)	Single nucleotide variant (missense variant)	Biotinidase deficiency +2 more	GBenign/Likely benign
Select item 24989	NM_001370658.1(BTD):c.185C>T (p.Ala62Val)	BTD (A62V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 439036	NM_001370658.1(BTD):c.196A>G (p.Met66Val)	BTD (M66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 290069	NM_001370658.1(BTD):c.201C>T (p.Asn67=)	BTD	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 385308	NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)	BTD (Q68E)	Single nucleotide variant (missense variant)	BTD-related condition +3 more	GConflicting classifications of pathogenicity
Select item 801134	NM_001370658.1(BTD):c.265G>C (p.Val89Leu)	BTD (V89L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439037	NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)	BTD (P91A +1 more)	Single nucleotide variant (missense variant)	Biotinidase deficiency +1 more	GUncertain significance
Select item 24997	NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)	BTD (E92Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 24999	NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	BTD (G94V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 801135	NM_001370658.1(BTD):c.392A>G (p.Asp131Gly)	BTD (D131G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156001	NM_001370658.1(BTD):c.395C>G (p.Thr132Arg)	BTD (T132R +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 619668	NM_001370658.1(BTD):c.400-2A>G	BTD	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 38290	NM_001370658.1(BTD):c.410G>A (p.Arg137His)	BTD (R137H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 38298	NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	BTD (A151T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 25018	NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	BTD (K156N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 587749	NM_001370658.1(BTD):c.534_536del (p.Val179del)	BTD (V179del)	Deletion (inframe_indel +2 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 25026	NM_001370658.1(BTD):c.535G>A (p.Val179Met)	BTD (V179M)	Single nucleotide variant (missense variant +1 more)	BTD-related condition +2 more	GPathogenic/Likely pathogenic
Select item 92400	NM_001370658.1(BTD):c.566G>A (p.Arg189His)	BTD (R189H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic
Select item 25028	NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)	BTD (R191C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25032	NM_001370658.1(BTD):c.585C>T (p.Leu195=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25035	NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)	BTD (D208Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439038	NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)	BTD (G218A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 25037	NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)	BTD (I228T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1901	NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)	BTD (D232G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 809437	NM_001370658.1(BTD):c.739G>T (p.Val247Leu)	BTD (V247L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1027092	NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)	BTD (A251S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25047	NM_001370658.1(BTD):c.820A>G (p.Ile274Val)	BTD (I274V)	Single nucleotide variant (missense variant +1 more)	BTD-related condition +3 more	GBenign/Likely benign
Select item 439039	NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)	BTD (A279P)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 38278	NM_001370658.1(BTD):c.908A>G (p.His303Arg)	BTD (H303R)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 25057	NM_001370658.1(BTD):c.992del (p.Thr331fs)	BTD (T331fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1330018	NM_001370658.1(BTD):c.1036_1037dup (p.Gly347fs)	BTD (G347fs)	Duplication (frameshift variant +1 more)	Biotinidase deficiency +1 more	GPathogenic
Select item 282920	NM_001370658.1(BTD):c.1041C>T (p.Gly347=)	BTD	Single nucleotide variant (synonymous variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 38570	NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)	BTD (P371S)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GBenign/Likely benign
Select item 143949	NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)	BTD (F383V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity; other
Select item 439033	NM_001370658.1(BTD):c.1148T>G (p.Phe383Cys)	BTD (F383C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 25065	NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)	BTD (T384I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 188805	NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)	BTD (W389fs)	Indel (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25073	NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	BTD (C403R)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 38593	NM_001370658.1(BTD):c.1224C>T (p.Tyr408=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1900	NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	BTD (D424H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 25082	NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)	BTD (G425V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 619666	NM_001370658.1(BTD):c.1278T>C (p.Leu426=)	BTD	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 619667	NM_001370658.1(BTD):c.1292G>T (p.Gly431Val)	BTD (G431V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 458806	NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)	BTD (Y434C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1902	NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	BTD (Q436H)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 25108	NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)	BTD (A458T)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 25090	NM_001370658.1(BTD):c.1395C>G (p.His465Gln)	BTD (H465Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1897	NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	BTD (T512M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 993214	NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)	BTD (L515V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 439034	NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe)	BTD (L515F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1898	NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	BTD (R518C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 439035	NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu)	BTD (R518L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25103	NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	BTD (D523E)	Single nucleotide variant (missense variant +1 more)	Biotinidase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 562759	GRCh37/hg19 3p25.1(chr3:15648003-16355532)x3	ANKRD28, BTD +3 more	Copy number gain	not provided	GLikely benign
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic

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Items: 63