"GeneDx"[submitter] AND "CASK"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59265	GRCh38/hg38 Xp11.4-11.23(chrX:41434043-47880733)x1	ARAF, CASK +152 more	Copy number loss	See cases	GPathogenic
Select item 2573781	NM_001367721.1(CASK):c.2776_2777insTA (p.Tyr926fs)	CASK, CASK-AS1 (Y897fs +4 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 523767	NM_001367721.1(CASK):c.2757G>A (p.Trp919Ter)	CASK, CASK-AS1 (W914* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1306199	NM_001367721.1(CASK):c.2743A>G (p.Thr915Ala)	CASK, CASK-AS1 (T886A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451277	NM_001367721.1(CASK):c.2737G>A (p.Val913Met)	CASK, CASK-AS1 (V908M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710662	NM_001367721.1(CASK):c.2707A>G (p.Ile903Val)	CASK, CASK-AS1 (I874V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501526	NM_001367721.1(CASK):c.2686A>G (p.Asn896Asp)	CASK, CASK-AS1 (N867D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590167	NM_001367721.1(CASK):c.2670C>T (p.Phe890=)	CASK, CASK-AS1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1303456	NM_001367721.1(CASK):c.2662C>T (p.His888Tyr)	CASK-AS1, CASK (H859Y +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279991	NM_001367721.1(CASK):c.2645T>G (p.Leu882Ter)	CASK-AS1, CASK (L877* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1211850	NM_001367721.1(CASK):c.2604+210C>T	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295699	NM_001367721.1(CASK):c.2604+203G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218664	NM_001367721.1(CASK):c.2604+71C>T	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668459	NM_001367721.1(CASK):c.2604+7A>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 265594	NM_001367721.1(CASK):c.2527A>T (p.Lys843Ter)	CASK (K838* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 265316	NM_001367721.1(CASK):c.2521-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1174887	NM_001367721.1(CASK):c.2521-11dup	CASK	Duplication (intron variant)	not provided	GBenign
Select item 1169740	NM_001367721.1(CASK):c.2521-10C>T	CASK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185943	NM_001367721.1(CASK):c.2521-11T>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214648	NM_001367721.1(CASK):c.2521-162T>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232398	NM_001367721.1(CASK):c.2521-168G>A	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315450	NM_001367721.1(CASK):c.2501T>C (p.Ile834Thr)	CASK (I805T +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1313197	NM_001367721.1(CASK):c.2497G>A (p.Ala833Thr)	CASK (A804T +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 1204593	NM_001367721.1(CASK):c.2489G>A (p.Gly830Glu)	CASK (G801E +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2498035	NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys)	CASK (E799K +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GUncertain significance
Select item 872826	NM_001367721.1(CASK):c.2471G>A (p.Arg824Gln)	CASK (R819Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 590126	NM_001367721.1(CASK):c.2470C>T (p.Arg824Trp)	CASK (R819W +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1693073	NM_001367721.1(CASK):c.2452A>T (p.Thr818Ser)	CASK (T789S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504187	NM_001367721.1(CASK):c.2446T>C (p.Tyr816His)	CASK (Y787H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158073	NM_001367721.1(CASK):c.2442G>A (p.Ala814=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +3 more	GBenign
Select item 388002	NM_001367721.1(CASK):c.2433C>T (p.His811=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +2 more	GBenign/Likely benign
Select item 424258	NM_001367721.1(CASK):c.2425G>A (p.Gly809Ser)	CASK (G804S +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 968166	NM_001367721.1(CASK):c.2410G>A (p.Glu804Lys)	CASK (E775K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 763021	NM_001367721.1(CASK):c.2409C>T (p.Asn803=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GBenign/Likely benign
Select item 421288	NM_001367721.1(CASK):c.2397C>G (p.Asp799Glu)	CASK (D794E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309843	NM_001367721.1(CASK):c.2390T>C (p.Met797Thr)	CASK (M768T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373139	NM_001367721.1(CASK):c.2383C>T (p.Gln795Ter)	CASK (Q790* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3369881	NM_001367721.1(CASK):c.2344G>A (p.Glu782Lys)	CASK (E753K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265323	NM_001367721.1(CASK):c.2344G>T (p.Glu782Ter)	CASK (E777* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1328836	NM_001367721.1(CASK):c.2318-11C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign
Select item 1187994	NM_001367721.1(CASK):c.2318-47C>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668060	NM_001367721.1(CASK):c.2318-251A>C	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 446289	NM_001367721.1(CASK):c.2317+1G>A	CASK	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 94376	NM_001367721.1(CASK):c.2317C>T (p.His773Tyr)	CASK (H768Y +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1788946	NM_001367721.1(CASK):c.2296C>T (p.Arg766Trp)	CASK (R761W +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type +3 more	GUncertain significance
Select item 280437	NM_001367721.1(CASK):c.2270dup (p.Asn757fs)	CASK (N757fs +3 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1699856	NM_001367721.1(CASK):c.2248G>T (p.Val750Phe)	CASK (V721F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432648	NM_001367721.1(CASK):c.2237G>A (p.Gly746Asp)	CASK (G741D +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343024	NM_001367721.1(CASK):c.2230T>G (p.Leu744Val)	CASK (L715V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423552	NM_001367721.1(CASK):c.2191GTA[1] (p.Val732del)	CASK (V727del +4 more)	Microsatellite (inframe_indel +1 more)	not provided	GPathogenic
Select item 1315474	NM_001367721.1(CASK):c.2192T>C (p.Val731Ala)	CASK (V702A +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GUncertain significance
Select item 59266	GRCh38/hg38 Xp11.4(chrX:41534941-41915080)x1	CASK, GPR34 +4 more	Copy number loss	See cases	GPathogenic
Select item 29937	NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)	CASK (Y728C +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 470209	NM_001367721.1(CASK):c.2175T>C (p.Leu725=)	CASK	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 420343	NM_001367721.1(CASK):c.2174T>C (p.Leu725Pro)	CASK (L720P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311960	NM_001367721.1(CASK):c.2156-4_2156-3delinsAAAACGCAAAGTGTTTTAGTTTTTAGTGTTTAGTTAAAACACTAA	CASK	Indel (intron variant)	not provided	GUncertain significance
Select item 1204297	NM_001367721.1(CASK):c.2156-40T>A	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206475	NM_001367721.1(CASK):c.2155+267A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421380	NM_001367721.1(CASK):c.2155+4_2155+6delinsA	CASK	Indel (intron variant)	not specified +1 more	GUncertain significance
Select item 451175	NM_001367721.1(CASK):c.2155+2T>C	CASK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3368702	NM_001367721.1(CASK):c.2144A>G (p.Lys715Arg)	CASK (K686R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372712	NM_001367721.1(CASK):c.2128G>A (p.Asp710Asn)	CASK (D681N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265654	NM_001367721.1(CASK):c.2100G>A (p.Trp700Ter)	CASK (W700* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373533	NM_001367721.1(CASK):c.2072A>G (p.Lys691Arg)	CASK (K662R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303664	NM_001367721.1(CASK):c.2047G>A (p.Ala683Thr)	CASK (A654T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 +2 more	GBenign/Likely benign
Select item 514514	NM_001367721.1(CASK):c.2040-17C>A	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GBenign/Likely benign
Select item 1215418	NM_001367721.1(CASK):c.2040-236G>A	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680088	NM_001367721.1(CASK):c.2039+243A>G	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382231	NM_001367721.1(CASK):c.2039+15G>A	CASK	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2662947	NM_001367721.1(CASK):c.2038T>C (p.Trp680Arg)	CASK (W651R +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +2 more	GUncertain significance
Select item 210582	NM_001367721.1(CASK):c.2019T>G (p.Pro673=)	CASK	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 390566	NM_001367721.1(CASK):c.2018C>T (p.Pro673Leu)	CASK (P673L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 588519	NM_001367721.1(CASK):c.2014A>G (p.Ile672Val)	CASK (I672V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1676383	NM_001367721.1(CASK):c.1972C>T (p.Gln658Ter)	CASK (Q629* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3365908	NM_001367721.1(CASK):c.1923A>T (p.Arg641Ser)	CASK (R612S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 166794	NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)	CASK (R641K +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 11530	NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)	CASK (R639* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	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 2505630	NM_001367721.1(CASK):c.1861T>C (p.Phe621Leu)	CASK (F592L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193850	NM_001367721.1(CASK):c.1843-84C>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195544	NM_001367721.1(CASK):c.1843-179T>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231166	NM_001367721.1(CASK):c.1842+41A>T	CASK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315072	NM_001367721.1(CASK):c.1842+6T>C	CASK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 418109	NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	CASK (R613* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type +2 more	GPathogenic/Likely pathogenic
Select item 1052557	NM_001367721.1(CASK):c.1819A>G (p.Thr607Ala)	CASK (T578A +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1221658	NM_001367721.1(CASK):c.1807-292del	CASK	Deletion (intron variant)	not provided	GBenign
Select item 1308035	NM_001367721.1(CASK):c.1805C>T (p.Ser602Leu)	CASK (S602L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 94375	NM_001367721.1(CASK):c.1794C>T (p.Asn598=)	CASK	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 2430687	NM_001367721.1(CASK):c.1790C>T (p.Thr597Ile)	CASK (T591I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1223680	NM_001367721.1(CASK):c.1738-252A>C	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1023129	NM_001367721.1(CASK):c.1727C>T (p.Ser576Leu)	CASK (S570L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194841	NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile)	CASK (T573I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 470208	NM_001367721.1(CASK):c.1669-6dup	CASK	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 283848	NM_001367721.1(CASK):c.1669-9C>A	CASK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 570810	NM_001367721.1(CASK):c.1641_1644del (p.Thr548fs)	CASK (T542fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 503609	NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	CASK (R537* +1 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic/Likely pathogenic
Select item 1353546	NM_001367721.1(CASK):c.1598G>C (p.Gly533Ala)	CASK (G527A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 420307	NM_001367721.1(CASK):c.1586C>A (p.Thr529Lys)	CASK (T529K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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