C1859570[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347492	NM_152618.3(BBS12):c.-157C>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347493	NM_152618.3(BBS12):c.-152C>G	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347494	NM_152618.3(BBS12):c.-124G>A	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GBenign
Select item 347495	NM_152618.3(BBS12):c.-109G>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 903588	NM_152618.3(BBS12):c.-102C>T	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347496	NM_152618.3(BBS12):c.-61G>C	BBS12	Single nucleotide variant (5 prime UTR variant)	Bardet-Biedl syndrome 12	GLikely benign
Select item 631937	NM_152618.3(BBS12):c.2dup (p.Met1fs)	BBS12 (M1fs)	Duplication (frameshift variant +1 more)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 262675	NM_152618.3(BBS12):c.51A>G (p.Gln17=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 96504	NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)	BBS12 (I39T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 215969	NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)	BBS12 (N71S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 215543	NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)	BBS12 (G119S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 262674	NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)	BBS12 (E126D)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
Select item 462965	NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)	BBS12 (N238K)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +3 more	GConflicting classifications of pathogenicity
Select item 899991	NM_152618.3(BBS12):c.775A>G (p.Thr259Ala)	BBS12 (T259A)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 262668	NM_152618.3(BBS12):c.1062G>C (p.Val354=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +4 more	GBenign
Select item 347497	NM_152618.3(BBS12):c.1092del (p.Glu365fs)	BBS12 (E365fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 631938	NM_152618.3(BBS12):c.1100dup (p.Tyr367Ter)	BBS12 (Y367*)	Duplication (nonsense)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347498	NM_152618.3(BBS12):c.1103G>A (p.Arg368His)	BBS12 (R368H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 901097	NM_152618.3(BBS12):c.1118A>G (p.Asn373Ser)	BBS12 (N373S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347499	NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)	BBS12 (R386W)	Single nucleotide variant (missense variant)	BBS12-related condition +3 more	GUncertain significance
Select item 166725	NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)	BBS12 (R386Q)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign
Select item 281597	NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	BBS12 (V400M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GUncertain significance
Select item 262669	NM_152618.3(BBS12):c.1200G>A (p.Val400=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 347500	NM_152618.3(BBS12):c.1207G>A (p.Val403Met)	BBS12 (V403M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GBenign
Select item 262670	NM_152618.3(BBS12):c.1209G>A (p.Val403=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 901703	NM_152618.3(BBS12):c.1227G>A (p.Val409=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 220044	NM_152618.3(BBS12):c.1257C>T (p.Ser419=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 347501	NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)	BBS12 (R421S)	Single nucleotide variant (missense variant)	BBS12-related condition +2 more	GUncertain significance
Select item 347502	NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)	BBS12 (C426Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 195416	NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)	BBS12 (S429T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +4 more	GBenign/Likely benign
Select item 901704	NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg)	BBS12 (K430R)	Single nucleotide variant (missense variant)	BBS12-related condition +2 more	GUncertain significance
Select item 166726	NM_152618.3(BBS12):c.1380G>C (p.Val460=)	BBS12	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 100564	NM_152618.3(BBS12):c.1381A>C (p.Asn461His)	BBS12 (N461H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 262672	NM_152618.3(BBS12):c.1398C>T (p.Gly466=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 166727	NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)	BBS12 (D467N)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +4 more	GBenign
Select item 166728	NM_152618.3(BBS12):c.1410C>T (p.Cys470=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 262673	NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)	BBS12 (R484K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 347503	NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	BBS12 (V500A)	Single nucleotide variant (missense variant)	BBS12-related condition +2 more	GConflicting classifications of pathogenicity
Select item 347504	NM_152618.3(BBS12):c.1590A>G (p.Leu530=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 903653	NM_152618.3(BBS12):c.1698A>G (p.Ser566=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 100565	NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)	BBS12 (S616N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 434490	NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)	BBS12 (Q620R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 166730	NM_152618.3(BBS12):c.1872A>G (p.Gln624=)	BBS12	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 703384	NM_152618.3(BBS12):c.1995T>C (p.Val665=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 695206	NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)	BBS12 (A672T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 900061	NM_152618.3(BBS12):c.2016G>A (p.Ala672=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 347506	NM_152618.3(BBS12):c.2100T>C (p.Asn700=)	BBS12	Single nucleotide variant (synonymous variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 347507	NM_152618.3(BBS12):c.*185T>C	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347509	NM_152618.3(BBS12):c.*248G>A	BBS12	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 901163	NM_152618.3(BBS12):c.*425C>T	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347510	NM_152618.3(BBS12):c.*484A>G	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 901164	NM_152618.3(BBS12):c.*582G>T	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347511	NM_152618.3(BBS12):c.*613T>C	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GBenign
Select item 347512	NM_152618.3(BBS12):c.*804A>G	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347513	NM_152618.3(BBS12):c.*811C>G	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GBenign
Select item 347514	NM_152618.3(BBS12):c.*828A>C	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347515	NM_152618.3(BBS12):c.*854C>A	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347516	NM_152618.3(BBS12):c.*859T>A	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 901763	NM_152618.3(BBS12):c.*860G>A	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 901764	NM_152618.3(BBS12):c.*907T>C	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	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: 61