"Genetic Services Laboratory, University of Chicago"[submitter] AND "C - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 434586	NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)	CASK (F822fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 210586	NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)	CASK (E849fs +3 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 29938	NM_001367721.1(CASK):c.2521-2A>T	CASK	Single nucleotide variant (splice acceptor variant)	not specified	GBenign
Select item 158074	NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)	CASK (Q824* +4 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 158073	NM_001367721.1(CASK):c.2442G>A (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 388002	NM_001367721.1(CASK):c.2433C>T (p.His811=)	CASK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 210585	NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)	CASK (Q793* +4 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 210584	NM_001367721.1(CASK):c.2325C>T (p.Thr775=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 210583	NM_001367721.1(CASK):c.2317+10G>C	CASK	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 282560	NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln)	CASK (R761Q +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434589	NM_001367721.1(CASK):c.2277C>T (p.Leu759=)	CASK	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158072	NM_001367721.1(CASK):c.2198A>G (p.Lys733Arg)	CASK (K728R +4 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 29937	NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)	CASK (Y728C +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 158070	NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)	CASK (Q692* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic/Likely pathogenic
Select item 158069	NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)	CASK (R681* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 158068	NM_001367721.1(CASK):c.2040-9A>G	CASK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 158067	NM_001367721.1(CASK):c.2039G>C (p.Trp680Ser)	CASK (W680S +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 210582	NM_001367721.1(CASK):c.2019T>G (p.Pro673=)	CASK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 210581	NM_001367721.1(CASK):c.1981del (p.Leu661fs)	CASK (L638fs +2 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 434587	NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)	CASK (E622* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 434585	NM_001367721.1(CASK):c.1860A>G (p.Gln620=)	CASK	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1338270	NM_001367721.1(CASK):c.1683dup (p.Ser562fs)	CASK (S556fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 470208	NM_001367721.1(CASK):c.1669-6dup	CASK	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158066	NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)	CASK (V543fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 29941	NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)	CASK (Q547* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 282375	NM_001367721.1(CASK):c.1315-10A>G	CASK	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 158065	NM_001367721.1(CASK):c.1269C>T (p.Asn423=)	CASK	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 158063	NM_001367721.1(CASK):c.1234-22G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 158064	NM_001367721.1(CASK):c.1234-30G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443088	NM_001367721.1(CASK):c.1155+1G>T	CASK	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 210580	NM_001367721.1(CASK):c.1125C>T (p.Phe375=)	CASK	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 194051	NM_001367721.1(CASK):c.1077G>A (p.Ala359=)	CASK	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 94374	NM_001367721.1(CASK):c.1034-6C>T	CASK	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 166795	NM_001367721.1(CASK):c.891A>G (p.Lys297=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related condition +4 more	GConflicting classifications of pathogenicity
Select item 158087	NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)	CASK (Q294*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 434588	NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)	CASK (Y282*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type +2 more	GPathogenic
Select item 1338217	NM_001367721.1(CASK):c.793A>T (p.Ile265Phe)	CASK (I265F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 158084	NM_001367721.1(CASK):c.764G>A (p.Arg255His)	CASK (R255H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158082	NM_001367721.1(CASK):c.708+1G>A	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 158080	NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)	CASK (G206D)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GConflicting classifications of pathogenicity
Select item 158078	NM_001367721.1(CASK):c.600A>G (p.Val200=)	CASK	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 158077	NM_001367721.1(CASK):c.430-2A>T	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 158075	NM_001367721.1(CASK):c.429+11419A>G	CASK, GPR82	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 210587	NM_001367721.1(CASK):c.429+4del	CASK	Deletion (intron variant)	not specified	GUncertain significance
Select item 94378	NM_001367721.1(CASK):c.363T>C (p.Tyr121=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +3 more	GBenign
Select item 29939	NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)	CASK (R106*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 158086	NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)	CASK (R28*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 158071	NM_001367721.1(CASK):c.20_27del (p.Leu7fs)	CASK (L7fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic

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Items: 48