ClinVar for MedGen (Select 437070) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062309	NM_001367721.1(CASK):c.173-1G>A	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2920666	NC_000023.11:g.(41853228_41922929)(41923555_?)del	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2920664	NM_001367721.1(CASK):c.704_708delATAAG (p.Lys236fs)	CASK (K236fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2663944	NM_001367721.1(CASK):c.881_882delinsCC (p.Gln294Pro)	CASK (Q294P)	Indel (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 2626912	NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)	CASK (Q665* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2585235	NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)	CASK (G638* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2582326	NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)	CASK (T558fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2581007	NM_001367721.1(CASK):c.1504-97G>A	CASK	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Najm type	GLikely benign
Select item 2579274	GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1	CASK, DDX3X +19 more	Copy number loss	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 2579263	GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0	CASK	Copy number loss	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 2578339	NM_001367721.1(CASK):c.1941G>C (p.Gln647His)	CASK (Q618H +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 2506584	NM_001367721.1(CASK):c.1811del (p.Leu604fs)	CASK (L575fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2506011	NM_001367721.1(CASK):c.278+2_278+3del	CASK	Microsatellite (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 2502362	NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)	CASK (T864fs +4 more)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2444343	NM_001367721.1(CASK):c.1583-1G>T	CASK	Single nucleotide variant (splice acceptor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2444142	NM_001367721.1(CASK):c.2169A>G (p.Leu723=)	CASK	Single nucleotide variant (synonymous variant +1 more)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 2441639	NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)	CASK (G197*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 1784171	NM_001367721.1(CASK):c.1A>G (p.Met1Val)	CASK (M1V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1709862	NM_001367721.1(CASK):c.565G>C (p.Glu189Gln)	CASK (E189Q)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 1705649	NM_001367721.1(CASK):c.1510del (p.Thr504fs)	CASK (T498fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 1699140	NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)	CASK (M549I +1 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 1692990	NM_001367721.1(CASK):c.825G>A (p.Trp275Ter)	CASK (W275*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 1687308	NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)	CASK (L169*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 1438451	NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)	CASK	Single nucleotide variant (synonymous variant)	Intellectual disability, CASK-related, X-linked +3 more	GLikely benign
Select item 1343235	NM_001367721.1(CASK):c.356+1G>T	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
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 1333907	NM_001367721.1(CASK):c.915+1G>A	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 1333906	NM_001367721.1(CASK):c.533-5T>G	CASK	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 1333658	NM_001367721.1(CASK):c.1582+1G>A	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 1333438	NM_001367721.1(CASK):c.2530G>T (p.Val844Phe)	CASK (V815F +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 1326849	NM_001367721.1(CASK):c.2155G>A (p.Val719Met)	CASK (D696N +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 1030696	NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)	CASK (G19E)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance
Select item 977904	NM_001367721.1(CASK):c.2608del (p.Glu870fs)	CASK (E841fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 977902	NM_001367721.1(CASK):c.1256del (p.Tyr419fs)	CASK (Y413fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 977820	NM_001367721.1(CASK):c.2039+1del	CASK	Deletion (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
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 976007	NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)	CASK (W242*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 833988	NM_001367721.1(CASK):c.709-3C>T	CASK	Single nucleotide variant (intron variant)	Syndromic X-linked intellectual disability Najm type +1 more	GConflicting classifications of pathogenicity
Select item 828187	NM_001367721.1(CASK):c.1997dup (p.Asn666fs)	CASK (N643fs +2 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 813943	NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)	CASK (W628* +3 more)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 813732	NM_001367721.1(CASK):c.359A>G (p.His120Arg)	CASK (H120R)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 803986	NM_001367721.1(CASK):c.774_780del (p.Met258fs)	CASK (M258fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 803985	NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)	CASK (E263K)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 803984	NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)	CASK (P462fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 803983	NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)	CASK (S781N +4 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
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 638400	NM_001367721.1(CASK):c.824G>A (p.Trp275Ter)	CASK (W275*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 632602	NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)	CASK (Y708fs +2 more)	Duplication (frameshift variant)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic/Likely pathogenic
Select item 632601	NM_001367721.1(CASK):c.533-2A>G	CASK	Single nucleotide variant (splice acceptor variant)	Congenital cerebellar hypoplasia +1 more	GPathogenic/Likely pathogenic
Select item 632600	NM_001367721.1(CASK):c.2156-1G>A	CASK	Single nucleotide variant (splice acceptor variant +1 more)	Syndromic X-linked intellectual disability Najm type +1 more	GLikely pathogenic
Select item 619127	NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)	CASK (V849A +4 more)	Single nucleotide variant (missense variant)	FG syndrome 4 +1 more	GLikely pathogenic
Select item 592117	NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)	CASK (D752fs +3 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 580053	NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)	CASK (G637D +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type +1 more	GConflicting classifications of pathogenicity
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 523666	NM_001367721.1(CASK):c.2155+1G>C	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 503609	NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	CASK (R537* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 489049	NM_001367721.1(CASK):c.846C>A (p.Tyr282Ter)	CASK (Y282*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 446288	NM_001367721.1(CASK):c.109C>T (p.Gln37Ter)	CASK (Q37*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 446287	NM_001367721.1(CASK):c.1315-7A>G	CASK	Single nucleotide variant (intron variant)	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 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 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 433537	NM_001367721.1(CASK):c.2604+1G>T	CASK	Single nucleotide variant (splice donor variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 432816	NM_001367721.1(CASK):c.626T>C (p.Leu209Pro)	CASK (L209P)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type +1 more	GPathogenic/Likely pathogenic
Select item 431176	NM_001367721.1(CASK):c.68del (p.Phe23fs)	CASK (F23fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 418109	NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)	CASK (R613* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 374802	NM_003688.3:c.116_117delCA	CASK	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 254208	NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	CASK (R489W +1 more)	Single nucleotide variant (missense variant)	Smith-Magenis Syndrome-like +2 more	GPathogenic/Likely pathogenic
Select item 216899	NM_001367721.1(CASK):c.2318-2A>G	CASK	Single nucleotide variant (splice acceptor 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 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 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 195200	NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)	CASK (R27*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 180215	NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)	CASK (G659D +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
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 158086	NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)	CASK (R28*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +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 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 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 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 158071	NM_001367721.1(CASK):c.20_27del (p.Leu7fs)	CASK (L7fs)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
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 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 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 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 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 29940	NC_000023.11:g.(41853228_41922929)_(41923555_?)del	CASK, LOC130068172 +1 more	Deletion	Syndromic X-linked intellectual disability Najm type	GPathogenic
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 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 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 11534	NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)	CASK (D710G +3 more)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type +1 more	GLikely pathogenic
Select item 11531	NM_001367721.1(CASK):c.915G>A (p.Lys305=)	CASK	Single nucleotide variant (synonymous variant)	Syndromic X-linked intellectual disability Najm type	GPathogenic
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

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Items: 97