"Eurofins Ntd Llc (ga)"[submitter] AND "IQCB1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +3 more	GConflicting classifications of pathogenicity
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 497681	NM_001023570.4(IQCB1):c.1450G>A (p.Ala484Thr)	IQCB1 (A484T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 497942	NM_001023570.4(IQCB1):c.1216A>T (p.Asn406Tyr)	IQCB1 (N406Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not specified +3 more	GBenign
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 193612	NM_001023570.4(IQCB1):c.877-10G>A	IQCB1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 199048	NM_001023570.4(IQCB1):c.826C>G (p.Gln276Glu)	IQCB1 (Q276E)	Single nucleotide variant (missense variant +2 more)	Senior-Loken syndrome 5 +1 more	GUncertain significance
Select item 199049	NM_001023570.4(IQCB1):c.817G>T (p.Glu273Ter)	IQCB1 (E273*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 199047	NM_001023570.4(IQCB1):c.814C>G (p.Gln272Glu)	IQCB1 (Q272E)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 500266	NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys)	IQCB1 (R259C)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 198444	NM_001023570.4(IQCB1):c.574C>T (p.Leu192=)	IQCB1	Single nucleotide variant (synonymous variant +1 more)	Senior-Loken syndrome 5 +3 more	GBenign
Select item 198443	NM_001023570.4(IQCB1):c.545C>A (p.Ser182Tyr)	IQCB1 (S182Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 238216	NM_001023570.4(IQCB1):c.394-15_394-10dup	IQCB1	Duplication (intron variant)	Nephronophthisis +1 more	GConflicting classifications of pathogenicity
Select item 197706	NM_001023570.4(IQCB1):c.322C>T (p.Leu108Phe)	IQCB1 (L108F)	Single nucleotide variant (missense variant +1 more)	Senior-Loken syndrome 5 +2 more	GUncertain significance
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 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