"Illumina Laboratory Services, Illumina"[submitter] AND "IQCB1"[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899816	NM_001023570.4(IQCB1):c.*399A>G	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 899817	NM_001023570.4(IQCB1):c.*327T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342767	NM_001023570.4(IQCB1):c.*226T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 899818	NM_001023570.4(IQCB1):c.*218G>A	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342768	NM_001023570.4(IQCB1):c.*197G>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5 +1 more	GBenign
Select item 900978	NM_001023570.4(IQCB1):c.*160C>T	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 900979	NM_001023570.4(IQCB1):c.*151T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 900980	NM_001023570.4(IQCB1):c.*148T>C	IQCB1	Single nucleotide variant (3 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342769	NM_001023570.4(IQCB1):c.1739A>C (p.Lys580Thr)	IQCB1 (K580T +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 900981	NM_001023570.4(IQCB1):c.1656C>G (p.Ala552=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342770	NM_001023570.4(IQCB1):c.1611C>T (p.Leu537=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342771	NM_001023570.4(IQCB1):c.1595G>A (p.Gly532Glu)	IQCB1 (G532E +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 215481	NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)	IQCB1 (N517Y +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 342772	NM_001023570.4(IQCB1):c.1544G>T (p.Ser515Ile)	IQCB1 (S515I +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 901542	NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 5 +1 more	GBenign/Likely benign
Select item 839885	NM_001023570.4(IQCB1):c.1466G>A (p.Arg489Gln)	IQCB1 (R356Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 220867	NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys)	IQCB1 (E481K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 901543	NM_001023570.4(IQCB1):c.1393T>C (p.Tyr465His)	IQCB1 (Y465H +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 342773	NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 698312	NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 5 +1 more	GBenign/Likely benign
Select item 219524	NM_001023570.4(IQCB1):c.1303C>T (p.Arg435Cys)	IQCB1 (R435C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 257090	NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)	IQCB1 (C434Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 342774	NM_001023570.4(IQCB1):c.1278+7C>T	IQCB1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 5	GUncertain significance
Select item 167196	NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)	IQCB1 (I393N +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5 +3 more	GBenign
Select item 903485	NM_001023570.4(IQCB1):c.1150C>T (p.Arg384Trp)	IQCB1 (R384W +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +1 more	GUncertain significance
Select item 342775	NM_001023570.4(IQCB1):c.1135G>A (p.Val379Met)	IQCB1 (V379M +1 more)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342776	NM_001023570.4(IQCB1):c.1129+13A>G	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342777	NM_001023570.4(IQCB1):c.877-11C>T	IQCB1	Single nucleotide variant (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342778	NM_001023570.4(IQCB1):c.823A>G (p.Arg275Gly)	IQCB1 (R275G)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 199047	NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)	IQCB1 (Q272E)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GUncertain significance
Select item 899872	NM_001023570.4(IQCB1):c.791A>C (p.Gln264Pro)	IQCB1 (Q264P)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 695947	NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg)	IQCB1 (L261R)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 342779	NM_001023570.4(IQCB1):c.722A>G (p.His241Arg)	IQCB1 (H241R)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342780	NM_001023570.4(IQCB1):c.714T>C (p.Ala238=)	IQCB1	Single nucleotide variant (synonymous variant +2 more)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 257093	NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)	IQCB1	Single nucleotide variant (synonymous variant +2 more)	Senior-Loken syndrome 5 +2 more	GBenign/Likely benign
Select item 198444	NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Nephronophthisis +3 more	GBenign
Select item 342781	NM_001023570.4(IQCB1):c.488-13dup	IQCB1	Duplication (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 342782	NM_001023570.4(IQCB1):c.482A>G (p.Gln161Arg)	IQCB1 (Q161R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1831	NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs)	IQCB1 (F142fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 632394	NM_001023570.4(IQCB1):c.358A>T (p.Arg120Ter)	IQCB1 (R120*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342783	NM_001023570.4(IQCB1):c.348A>G (p.Leu116=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 901051	NM_001023570.4(IQCB1):c.169G>T (p.Asp57Tyr)	IQCB1 (D57Y)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 901052	NM_001023570.4(IQCB1):c.-12-4A>T	IQCB1	Single nucleotide variant (intron variant)	Senior-Loken syndrome 5	GUncertain significance
Select item 342784	NM_001023570.4(IQCB1):c.-147_-142del	IQCB1	Deletion (5 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia	GBenign
Select item 342785	NM_001023570.4(IQCB1):c.-147del	IQCB1	Deletion (5 prime UTR variant +1 more)	Renal dysplasia and retinal aplasia	GUncertain significance
Select item 342786	NM_001023570.4(IQCB1):c.-154T>G	IQCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342787	NM_001023570.4(IQCB1):c.-178C>T	IQCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 5	GLikely benign
Select item 901053	NM_001023570.4(IQCB1):c.-179G>A	IQCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342788	NM_001023570.4(IQCB1):c.-185C>G	IQCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342789	NM_001023570.4(IQCB1):c.-190C>T	IQCB1	Single nucleotide variant (non-coding transcript variant +1 more)	Senior-Loken syndrome 5	GUncertain significance
Select item 342790	NM_001023570.4(IQCB1):c.-193T>C	IQCB1	Single nucleotide variant (5 prime UTR variant +1 more)	Senior-Loken syndrome 5	GBenign
Select item 342791	NM_001023570.3(IQCB1):c.-215C>T	IQCB1	Single nucleotide variant	Renal dysplasia and retinal aplasia	GUncertain significance

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Items: 52