C1843807[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 896536	NM_025243.4(SLC19A3):c.*2159G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334829	NM_025243.4(SLC19A3):c.*2139G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334830	NM_025243.4(SLC19A3):c.*2132T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334832	NM_025243.4(SLC19A3):c.*2130T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334833	NM_025243.4(SLC19A3):c.*2129A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334834	NM_025243.4(SLC19A3):c.*2109C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334835	NM_025243.4(SLC19A3):c.*2104T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 898158	NM_025243.4(SLC19A3):c.*2050C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334836	NM_025243.4(SLC19A3):c.*2033A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334837	NM_025243.4(SLC19A3):c.*1996T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 899258	NM_025243.4(SLC19A3):c.*1995G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334838	NM_025243.4(SLC19A3):c.*1974G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334839	NM_025243.4(SLC19A3):c.*1963C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334840	NM_025243.4(SLC19A3):c.*1953G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334841	NM_025243.4(SLC19A3):c.*1925A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 899259	NM_025243.4(SLC19A3):c.*1905G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 899260	NM_025243.4(SLC19A3):c.*1889T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895163	NM_025243.4(SLC19A3):c.*1859C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 895164	NM_025243.4(SLC19A3):c.*1842T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334842	NM_025243.4(SLC19A3):c.*1839G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334843	NM_025243.4(SLC19A3):c.*1818T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334844	NM_025243.4(SLC19A3):c.*1815A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 334845	NM_025243.4(SLC19A3):c.*1813A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease +1 more	GBenign
Select item 895165	NM_025243.4(SLC19A3):c.*1800C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334846	NM_025243.4(SLC19A3):c.*1792C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334847	NM_025243.4(SLC19A3):c.*1740G>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334848	NM_025243.4(SLC19A3):c.*1696G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334849	NM_025243.4(SLC19A3):c.*1684A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 896582	NM_025243.4(SLC19A3):c.*1630G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334850	NM_025243.4(SLC19A3):c.*1517T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896583	NM_025243.4(SLC19A3):c.*1463G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334851	NM_025243.4(SLC19A3):c.*1427T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 896584	NM_025243.4(SLC19A3):c.*1355G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334852	NM_025243.4(SLC19A3):c.*1339C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334853	NM_025243.4(SLC19A3):c.*1320C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898210	NM_025243.4(SLC19A3):c.*1264A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898211	NM_025243.4(SLC19A3):c.*1256C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898212	NM_025243.4(SLC19A3):c.*1207C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334854	NM_025243.4(SLC19A3):c.*1121G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334855	NM_025243.4(SLC19A3):c.*1104T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898213	NM_025243.4(SLC19A3):c.*1094C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334856	NM_025243.4(SLC19A3):c.*1090G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334857	NM_025243.4(SLC19A3):c.*1072A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334858	NM_025243.4(SLC19A3):c.*1059C>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 899316	NM_025243.4(SLC19A3):c.*1044G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334859	NM_025243.4(SLC19A3):c.*1003G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334860	NM_025243.4(SLC19A3):c.*1000A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 899317	NM_025243.4(SLC19A3):c.*975G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 899318	NM_025243.4(SLC19A3):c.*924C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334862	NM_025243.4(SLC19A3):c.*803G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334863	NM_025243.4(SLC19A3):c.*778G>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895227	NM_025243.4(SLC19A3):c.*713C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334864	NM_025243.4(SLC19A3):c.*685G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334866	NM_025243.4(SLC19A3):c.*575G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 895228	NM_025243.4(SLC19A3):c.*570T>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334867	NM_025243.4(SLC19A3):c.*506C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334868	NM_025243.4(SLC19A3):c.*499C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334869	NM_025243.4(SLC19A3):c.*348A>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334870	NM_025243.4(SLC19A3):c.*300G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896655	NM_025243.4(SLC19A3):c.*289A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334871	NM_025243.4(SLC19A3):c.*231G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 334872	NM_025243.4(SLC19A3):c.*204G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334873	NM_025243.4(SLC19A3):c.*203C>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 334874	NM_025243.4(SLC19A3):c.*176A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 896656	NM_025243.4(SLC19A3):c.*115C>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GBenign
Select item 334875	NM_025243.4(SLC19A3):c.*106A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 897117	NM_025243.4(SLC19A3):c.*103C>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 897118	NM_025243.4(SLC19A3):c.*59T>C	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 334876	NM_025243.4(SLC19A3):c.*33A>G	SLC19A3	Single nucleotide variant (3 prime UTR variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 198267	NM_025243.4(SLC19A3):c.*8G>A	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 841842	NM_025243.4(SLC19A3):c.1463G>C (p.Ser488Thr)	SLC19A3 (S484T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 334877	NM_025243.4(SLC19A3):c.1442T>C (p.Val481Ala)	SLC19A3 (V481A)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 847118	NM_025243.4(SLC19A3):c.1439A>G (p.Asp480Gly)	SLC19A3 (D480G +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 898281	NM_025243.4(SLC19A3):c.1412A>G (p.Gln471Arg)	SLC19A3 (Q471R +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 372581	NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu)	SLC19A3 (Q418E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 771249	NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys)	SLC19A3 (R402C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215161	NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg)	SLC19A3 (L385R)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GConflicting classifications of pathogenicity
Select item 288883	NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)	SLC19A3 (S382N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 334878	NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val)	SLC19A3 (I378V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130320	NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)	SLC19A3 (V350A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 898282	NM_025243.4(SLC19A3):c.982G>A (p.Ala328Thr)	SLC19A3 (A328T +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 215155	NM_025243.4(SLC19A3):c.980-4del	SLC19A3	Deletion (intron variant)	Biotin-responsive basal ganglia disease +3 more	GBenign
Select item 334879	NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)	SLC19A3 (G326V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 895285	NM_025243.4(SLC19A3):c.876T>C (p.Phe292=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 792418	NM_025243.4(SLC19A3):c.861C>T (p.Phe287=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GConflicting classifications of pathogenicity
Select item 281501	NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease +2 more	GConflicting classifications of pathogenicity
Select item 779583	NM_025243.4(SLC19A3):c.779A>T (p.Asp260Val)	SLC19A3 (D260V +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 139124	NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 895286	NM_025243.4(SLC19A3):c.636C>A (p.Ser212Arg)	SLC19A3 (S208R +1 more)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease	GUncertain significance
Select item 215152	NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)	SLC19A3 (I207M)	Single nucleotide variant (missense variant)	SLC19A3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 334880	NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)	SLC19A3 (R205G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 130325	NM_025243.4(SLC19A3):c.549T>C (p.Ala183=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 196528	NM_025243.4(SLC19A3):c.546G>A (p.Val182=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 130324	NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)	SLC19A3 (V174I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 334881	NM_025243.4(SLC19A3):c.481T>C (p.Leu161=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GConflicting classifications of pathogenicity
Select item 130323	NM_025243.4(SLC19A3):c.435C>T (p.Ser145=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 139123	NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)	SLC19A3 (G141S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 290414	NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 334882	NM_025243.4(SLC19A3):c.390G>T (p.Val130=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897180	NM_025243.4(SLC19A3):c.360G>A (p.Glu120=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease	GConflicting classifications of pathogenicity

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