ClinVar for MedGen (Select 336965) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254723	NM_001367721.1(CASK):c.464C>T (p.Ser155Leu)	CASK (S155L)	Single nucleotide variant (missense variant)	FG syndrome 4	GLikely pathogenic
Select item 3254722	NM_001367721.1(CASK):c.1345C>T (p.His449Tyr)	CASK (H443Y +1 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 3254662	NM_001367721.1(CASK):c.364_365delinsGA (p.Met122Glu)	CASK (M122E)	Indel (missense variant)	FG syndrome 4	GUncertain significance
Select item 3236435	NM_001367721.1(CASK):c.2324C>G (p.Thr775Ser)	CASK (T746S +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 3075664	NM_001367721.1(CASK):c.1843-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic
Select item 3068378	NM_001367721.1(CASK):c.539T>A (p.Val180Asp)	CASK (V180D)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 2431385	NM_001367721.1(CASK):c.172+5_172+6delinsAT	CASK	Indel (intron variant)	FG syndrome 4	GUncertain significance
Select item 1707714	NC_000023.10:g.(?_41387096)_(41396627_?)del	CASK	Deletion	FG syndrome 4	GPathogenic
Select item 1676836	NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile)	CASK (T355I +1 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GLikely pathogenic
Select item 1438451	NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)	CASK	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 1421797	NM_001367721.1(CASK):c.847G>A (p.Ala283Thr)	CASK (A283T)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GUncertain significance
Select item 1343138	NM_001367721.1(CASK):c.2317+5G>A	CASK	Single nucleotide variant (intron variant)	Developmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 1339225	NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys)	CASK (S459C +1 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 1330235	NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln)	CASK (E783Q +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 1319147	NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile)	CASK (S469I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 976216	NM_001367721.1(CASK):c.2621G>A (p.Arg874His)	CASK, CASK-AS1 (R845H +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GUncertain significance
Select item 976147	NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)	CASK (G206S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 948190	NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys)	CASK (R566C +1 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +2 more	GConflicting classifications of pathogenicity
Select item 930925	NM_001367721.1(CASK):c.2243A>G (p.His748Arg)	CASK (H719R +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GUncertain significance
Select item 930346	NM_001367721.1(CASK):c.916-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	FG syndrome 4	GPathogenic
Select item 810578	NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln)	CASK (R483Q +1 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +3 more	GPathogenic/Likely pathogenic
Select item 689749	NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)	CASK (G306fs)	Duplication (frameshift variant)	FG syndrome 4 +1 more	GPathogenic
Select item 658905	NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe)	CASK, CASK-AS1 (L883F +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +3 more	GUncertain significance
Select item 619127	NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)	CASK (V849A +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type +1 more	GLikely pathogenic
Select item 587634	NM_001367721.1(CASK):c.761G>A (p.Arg254His)	CASK (R254H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 575647	NM_001367721.1(CASK):c.305A>G (p.Glu102Gly)	CASK (E102G)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 434588	NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)	CASK (Y282*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
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 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 158086	NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)	CASK (R28*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
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 29938	NM_001367721.1(CASK):c.2521-2A>T	CASK	Single nucleotide variant (splice acceptor 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)	not provided +1 more	GLikely pathogenic
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 11535	NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg)	CASK, CASK-AS1 (W914R +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4	GPathogenic
Select item 11534	NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	CASK (D710G +3 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GLikely pathogenic
Select item 11533	NM_001367721.1(CASK):c.802T>C (p.Tyr268His)	CASK (Y268H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 11532	NM_001367721.1(CASK):c.83G>T (p.Arg28Leu)	CASK (R28L)	Single nucleotide variant (missense variant)	FG syndrome 4	GPathogenic

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Items: 38