Related gene-specific medical variations for Gene (Select 23096) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362291	NM_001111125.3(IQSEC2):c.675del (p.Ser226fs)	IQSEC2 (S226fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 3361966	NM_001111125.3(IQSEC2):c.3100C>G (p.Leu1034Val)	IQSEC2 (L1034V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360573	NM_001111125.3(IQSEC2):c.2947G>A (p.Asp983Asn)	IQSEC2 (D778N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359370	NM_001111125.3(IQSEC2):c.2660C>A (p.Ala887Asp)	IQSEC2 (A682D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358953	NM_001111125.3(IQSEC2):c.1797_1800dup (p.Asp601Ter)	IQSEC2 (D396* +1 more)	Duplication (nonsense)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 3065610	NM_001111125.3(IQSEC2):c.2703del (p.Ala902fs)	IQSEC2 (A697fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 2672128	NM_001111125.3(IQSEC2):c.2648T>C (p.Ile883Thr)	IQSEC2 (I678T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2502888	NM_001111125.3(IQSEC2):c.548A>C (p.Glu183Ala)	IQSEC2 (E183A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2442066	NM_001111125.3(IQSEC2):c.2846C>T (p.Ser949Phe)	IQSEC2 (S744F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2432863	NM_001111125.3(IQSEC2):c.2596G>A (p.Val866Ile)	IQSEC2 (V661I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 2432860	NM_001111125.3(IQSEC2):c.3065G>A (p.Arg1022His)	IQSEC2 (R1022H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1 +1 more	GUncertain significance
Select item 1803041	NM_001111125.3(IQSEC2):c.3016-1G>T	IQSEC2	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 1803040	NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)	IQSEC2 (N560K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1701754	NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs)	IQSEC2 (R110fs +1 more)	Duplication (frameshift variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1700175	NM_001111125.3(IQSEC2):c.1613dup (p.Pro539fs)	IQSEC2 (P334fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1324587	NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs)	IQSEC2 (S1429fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1324586	NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs)	IQSEC2 (A1347fs)	Duplication (frameshift variant +1 more)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1323121	NM_001111125.3(IQSEC2):c.2225G>A (p.Trp742Ter)	IQSEC2 (W537* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 1	GPathogenic
Select item 987491	NM_001111125.3(IQSEC2):c.1399C>T (p.Gln467Ter)	IQSEC2 (Q262* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987122	NM_001111125.3(IQSEC2):c.1510del (p.Gln504fs)	IQSEC2 (Q299fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 983338	NM_001111125.3(IQSEC2):c.3386A>T (p.Tyr1129Phe)	IQSEC2 (Y1129F +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 979199	NM_001111125.3(IQSEC2):c.1849del (p.Arg617fs)	IQSEC2 (R412fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 931517	NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser)	IQSEC2 (R872S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GBenign
Select item 930554	NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)	IQSEC2 (L319fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 813544	NM_001111125.3(IQSEC2):c.4250A>C (p.His1417Pro)	IQSEC2 (H1417P)	Single nucleotide variant (missense variant +1 more)	Microcephaly	GUncertain significance
Select item 812005	NM_001111125.3(IQSEC2):c.826C>A (p.Pro276Thr)	IQSEC2 (P276T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GUncertain significance
Select item 810615	NM_001111125.3(IQSEC2):c.2995C>T (p.Leu999Phe)	IQSEC2 (L794F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 688926	GRCh37/hg19 Xp11.22(chrX:53254672-53270756)x3	IQSEC2	Copy number gain	not provided	GUncertain significance
Select item 624418	NM_001111125.3(IQSEC2):c.3560C>T (p.Pro1187Leu)	IQSEC2 (P1187L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 29