"Baylor Genetics"[submitter] AND "IQCB1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2676178	NM_001023570.4(IQCB1):c.1602del (p.Glu534fs)	IQCB1 (E401fs +1 more)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241783	NM_001023570.4(IQCB1):c.1568-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676174	NM_001023570.4(IQCB1):c.1557dup (p.Gln520fs)	IQCB1 (Q387fs +1 more)	Duplication (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 449717	NM_001023570.4(IQCB1):c.1558C>T (p.Gln520Ter)	IQCB1 (Q520* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1983358	NM_001023570.4(IQCB1):c.1532_1536dup (p.Gln513Ter)	IQCB1 (Q513* +1 more)	Duplication (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 156379	NM_001023570.4(IQCB1):c.1522_1523dup (p.Ala509fs)	IQCB1 (A509fs +1 more)	Microsatellite (frameshift variant +1 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 93469	NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs)	IQCB1 (H373fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 569196	NM_001023570.4(IQCB1):c.1504C>T (p.Arg502Ter)	IQCB1 (R502* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +2 more	GPathogenic
Select item 30778	NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)	IQCB1 (R489* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +2 more	GPathogenic
Select item 1830	NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)	IQCB1 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	IQCB1-related disorder +4 more	GPathogenic
Select item 504877	NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)	IQCB1 (R455* +1 more)	Single nucleotide variant (nonsense +1 more)	Renal dysplasia and retinal aplasia +2 more	GPathogenic
Select item 3241775	NM_001023570.4(IQCB1):c.1342C>T (p.Gln448Ter)	IQCB1 (Q315* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GPathogenic
Select item 1458659	NM_001023570.4(IQCB1):c.1333C>T (p.Arg445Ter)	IQCB1 (R312* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +1 more	GPathogenic
Select item 3241778	NM_001023570.4(IQCB1):c.1129+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 167197	NM_001023570.4(IQCB1):c.1090C>T (p.Arg364Ter)	IQCB1 (R364* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +2 more	GPathogenic
Select item 2676168	NM_001023570.4(IQCB1):c.1056del (p.Leu352fs)	IQCB1 (L219fs +1 more)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676176	NM_001023570.4(IQCB1):c.1051C>T (p.Gln351Ter)	IQCB1 (Q218* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676169	NM_001023570.4(IQCB1):c.1045_1048delinsGGGGG (p.Lys349fs)	IQCB1 (K216fs +1 more)	Indel (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 30779	NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)	IQCB1 (E346* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 2676172	NM_001023570.4(IQCB1):c.1024C>T (p.Gln342Ter)	IQCB1 (Q209* +1 more)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 560468	NM_001023570.4(IQCB1):c.994C>T (p.Arg332Ter)	IQCB1 (R332* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 3241780	NM_001023570.4(IQCB1):c.986+1G>T	IQCB1	Single nucleotide variant (splice donor variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 872596	NM_001023570.4(IQCB1):c.983dup (p.Arg329fs)	IQCB1 (R329fs)	Duplication (frameshift variant +1 more)	Senior-Loken syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 967126	NM_001023570.4(IQCB1):c.919_920insC (p.Gly307fs)	IQCB1 (G307fs)	Insertion (frameshift variant +1 more)	Senior-Loken syndrome 5 +1 more	GPathogenic
Select item 403963	NM_001023570.4(IQCB1):c.897_900dup (p.Ile301fs)	IQCB1 (I301fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 942614	NM_001023570.4(IQCB1):c.862G>T (p.Glu288Ter)	IQCB1 (E288*)	Single nucleotide variant (nonsense +2 more)	Nephronophthisis +1 more	GPathogenic/Likely pathogenic
Select item 3241773	NM_001023570.4(IQCB1):c.814C>T (p.Gln272Ter)	IQCB1 (Q272*)	Single nucleotide variant (nonsense +2 more)	Senior-Loken syndrome 5	GPathogenic
Select item 3241781	NM_001023570.4(IQCB1):c.780dup (p.Leu261fs)	IQCB1 (L261fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676181	NM_001023570.4(IQCB1):c.781del (p.Leu260_Leu261insTer)	IQCB1	Deletion (nonsense +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 988123	NM_001023570.4(IQCB1):c.758del (p.Cys253fs)	IQCB1 (C253fs)	Deletion (frameshift variant +2 more)	Senior-Loken syndrome 5	GPathogenic
Select item 3241774	NM_001023570.4(IQCB1):c.717dup (p.Ser240fs)	IQCB1 (S240fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676177	NM_001023570.4(IQCB1):c.628dup (p.Ile210fs)	IQCB1 (I210fs)	Duplication (frameshift variant +2 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 1521325	NM_001023570.4(IQCB1):c.588-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant +1 more)	Senior-Loken syndrome 5 +1 more	GLikely pathogenic
Select item 2676175	NM_001023570.4(IQCB1):c.577C>T (p.Gln193Ter)	IQCB1 (Q193*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2910173	NM_001023570.4(IQCB1):c.493C>T (p.Gln165Ter)	IQCB1 (Q165*)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis +1 more	GPathogenic
Select item 812120	NM_001023570.4(IQCB1):c.488-1G>A	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5	GPathogenic
Select item 2676173	NM_001023570.4(IQCB1):c.488-2A>G	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241782	NM_001023570.4(IQCB1):c.487+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 3241779	NM_001023570.4(IQCB1):c.479_482del (p.Ile160fs)	IQCB1 (I160fs)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GPathogenic
Select item 2676179	NM_001023570.4(IQCB1):c.481C>T (p.Gln161Ter)	IQCB1 (Q161*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
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 167198	NM_001023570.4(IQCB1):c.264-2A>T	IQCB1	Single nucleotide variant (splice acceptor variant)	Senior-Loken syndrome 5 +2 more	GPathogenic
Select item 3241776	NM_001023570.4(IQCB1):c.263+201del	IQCB1	Deletion (intron variant)	Senior-Loken syndrome 5	GPathogenic
Select item 2676170	NM_001023570.4(IQCB1):c.263+1G>T	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 285623	NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter)	IQCB1 (R72*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +3 more	GPathogenic
Select item 2676180	NM_001023570.4(IQCB1):c.150_153del (p.Gln51fs)	IQCB1 (Q51fs)	Deletion (frameshift variant +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676182	NM_001023570.4(IQCB1):c.151C>T (p.Gln51Ter)	IQCB1 (Q51*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2676171	NM_001023570.4(IQCB1):c.100+1G>A	IQCB1	Single nucleotide variant (splice donor variant)	Senior-Loken syndrome 5	GLikely pathogenic
Select item 2955923	NM_001023570.4(IQCB1):c.100G>T (p.Glu34Ter)	IQCB1 (E34*)	Single nucleotide variant (nonsense +1 more)	Senior-Loken syndrome 5 +1 more	GPathogenic/Likely pathogenic

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Items: 49