"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CASK"[gene - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2583079	NM_001367721.1(CASK):c.2725G>A (p.Ala909Thr)	CASK (A880T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660346	NM_001367721.1(CASK):c.2520+1468G>A	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660347	NM_001367721.1(CASK):c.2520+1427A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166711	NM_001367721.1(CASK):c.2508C>T (p.Asp836=)	CASK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
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	GUncertain significance
Select item 1299181	NM_001367721.1(CASK):c.2375C>T (p.Ser792Phe)	CASK (S763F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2660348	NM_001367721.1(CASK):c.2233T>C (p.Leu745=)	CASK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 166794	NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys)	CASK (R641K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 916508	NM_001367721.1(CASK):c.1843-2A>T	CASK	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1299182	NM_001367721.1(CASK):c.1759A>G (p.Arg587Gly)	CASK (R587G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2660349	NM_001367721.1(CASK):c.1728G>A (p.Ser576=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign
Select item 948190	NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)	CASK (R566C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 425493	NM_001367721.1(CASK):c.1700T>C (p.Ile567Thr)	CASK (I567T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 470208	NM_001367721.1(CASK):c.1669-6dup	CASK	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 872827	NM_001367721.1(CASK):c.1508del (p.Ile503fs)	CASK (I497fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2660350	NM_001367721.1(CASK):c.1504-5A>G	CASK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1581134	NM_001367721.1(CASK):c.1504-6del	CASK	Deletion (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GBenign/Likely benign
Select item 810578	NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)	CASK (R483Q +1 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 537749	NM_001367721.1(CASK):c.1408G>A (p.Gly470Ser)	CASK (G470S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 718216	NM_001367721.1(CASK):c.1392C>T (p.Thr464=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related condition +2 more	GBenign/Likely benign
Select item 1169622	NM_001367721.1(CASK):c.1332C>T (p.His444=)	CASK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 11536	NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)	CASK (P396S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 872828	NM_001367721.1(CASK):c.1090A>G (p.Ser364Gly)	CASK (S358G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, CASK-related, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 194051	NM_001367721.1(CASK):c.1077G>A (p.Ala359=)	CASK	Single nucleotide variant (synonymous variant)	CASK-related condition +4 more	GConflicting classifications of pathogenicity
Select item 810579	NM_001367721.1(CASK):c.985C>A (p.Pro329Thr)	CASK (P329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660351	NM_001367721.1(CASK):c.915+829A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 871196	NM_001367721.1(CASK):c.721C>T (p.Gln241Ter)	CASK (Q241*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1299183	NM_001367721.1(CASK):c.588C>G (p.Tyr196Ter)	CASK (Y196*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 624404	NM_001367721.1(CASK):c.578G>T (p.Arg193Ile)	CASK (R193I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660352	NM_001367721.1(CASK):c.564A>T (p.Pro188=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +1 more	GLikely benign
Select item 2660353	NM_001367721.1(CASK):c.509G>C (p.Gly170Ala)	CASK (G170A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660354	NM_001367721.1(CASK):c.430-4T>C	CASK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1676159	NM_080817.5(GPR82):c.399C>T (p.Cys133=)	CASK, GPR82	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660355	NM_001367721.1(CASK):c.429+11848A>G	CASK, GPR82	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1012649	NM_001367721.1(CASK):c.356+1848A>G	CASK	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 810580	NM_001367721.1(CASK):c.36C>A (p.Tyr12Ter)	CASK (Y12*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 807884	GRCh37/hg19 Xp11.4(chrX:41646431-41646536)x1	CASK	Copy number loss	not provided	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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Items: 41