ClinVar for Gene (Select 11198) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244075	NC_000014.8:g.(?_21682087)_(21870618_?)del	CHD8, HNRNPC +2 more	Deletion	not provided	GPathogenic
Select item 3244074	NC_000014.8:g.(?_21756136)_(21884086_?)dup	CHD8, RPGRIP1 +1 more	Duplication	not provided	GUncertain significance
Select item 3244073	NC_000014.8:g.(?_21671278)_(21866131_?)dup	CHD8, HNRNPC +2 more	Duplication	not provided	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	TRL-AAG2-3, TRP-AGG2-5 +38 more	Duplication	not provided	GUncertain significance
Select item 3238797	NM_007192.4(SUPT16H):c.488A>G (p.Asp163Gly)	SUPT16H (D163G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3234894	NM_007192.4(SUPT16H):c.3085C>T (p.Arg1029Cys)	LOC126861887, SUPT16H (R1029C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3233703	NM_007192.4(SUPT16H):c.1696A>G (p.Thr566Ala)	SUPT16H (T566A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172137	NM_007192.4(SUPT16H):c.966A>G (p.Ile322Met)	SUPT16H (I322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3172136	NM_007192.4(SUPT16H):c.3134A>G (p.Lys1045Arg)	LOC126861887, SUPT16H (K1045R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066384	NM_007192.4(SUPT16H):c.2578G>T (p.Val860Phe)	SUPT16H (V860F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 3062176	NM_007192.4(SUPT16H):c.1114A>G (p.Lys372Glu)	SUPT16H (K372E)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 3059395	NM_007192.4(SUPT16H):c.1234-4C>T	SUPT16H	Single nucleotide variant (intron variant)	SUPT16H-related disorder	GBenign
Select item 3055917	NM_007192.4(SUPT16H):c.1368G>A (p.Arg456=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GBenign
Select item 3055874	NM_007192.4(SUPT16H):c.1244C>G (p.Ala415Gly)	SUPT16H (A415G)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GBenign
Select item 3055269	NM_007192.4(SUPT16H):c.933G>A (p.Glu311=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GLikely benign
Select item 3055068	NM_007192.4(SUPT16H):c.51G>A (p.Leu17=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GLikely benign
Select item 3049512	NM_007192.4(SUPT16H):c.1194C>T (p.Thr398=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GBenign
Select item 3048066	NM_007192.4(SUPT16H):c.2553C>T (p.His851=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GLikely benign
Select item 3040988	NM_007192.4(SUPT16H):c.221T>C (p.Ile74Thr)	SUPT16H (I74T)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GLikely benign
Select item 3039102	NM_007192.4(SUPT16H):c.3098G>A (p.Arg1033His)	LOC126861887, SUPT16H (R1033H)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GLikely benign
Select item 3037670	NM_007192.4(SUPT16H):c.1087A>G (p.Ile363Val)	SUPT16H (I363V)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GLikely benign
Select item 3035765	NM_007192.4(SUPT16H):c.1728C>T (p.Gly576=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GLikely benign
Select item 3030422	NM_007192.4(SUPT16H):c.3022GAA[3] (p.Glu1011del)	LOC126861887, SUPT16H (E1011del)	Microsatellite (inframe deletion)	SUPT16H-related disorder	GLikely benign
Select item 2692480	NM_007192.4(SUPT16H):c.2077C>T (p.Arg693Ter)	SUPT16H (R693*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GLikely pathogenic
Select item 2690172	NM_007192.4(SUPT16H):c.132T>G (p.Ile44Met)	SUPT16H (I44M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2672185	NM_007192.4(SUPT16H):c.3092C>T (p.Ser1031Phe)	LOC126861887, SUPT16H (S1031F)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2644060	NM_007192.4(SUPT16H):c.486A>T (p.Ile162=)	SUPT16H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637005	NM_007192.4(SUPT16H):c.420C>G (p.Asp140Glu)	SUPT16H (D140E)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GUncertain significance
Select item 2626926	NM_007192.4(SUPT16H):c.1222C>T (p.Leu408Phe)	SUPT16H (L408F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2613507	NM_007192.4(SUPT16H):c.911T>G (p.Phe304Cys)	SUPT16H (F304C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2580329	GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1	CHD8, METTL3 +5 more	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2571588	NM_007192.4(SUPT16H):c.2617G>A (p.Ala873Thr)	SUPT16H (A873T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2551585	NM_007192.4(SUPT16H):c.100A>G (p.Ile34Val)	SUPT16H (I34V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541925	NM_007192.4(SUPT16H):c.3014G>A (p.Arg1005His)	LOC126861887, SUPT16H (R1005H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514723	NM_007192.4(SUPT16H):c.1282G>A (p.Val428Met)	SUPT16H (V428M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513669	NM_007192.4(SUPT16H):c.967T>C (p.Cys323Arg)	SUPT16H (C323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505913	NM_007192.4(SUPT16H):c.1056G>A (p.Met352Ile)	SUPT16H (M352I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504933	NM_007192.4(SUPT16H):c.1859_1861dup (p.Asn620_Ala621insAsp)	SUPT16H	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2504853	NM_007192.4(SUPT16H):c.602G>A (p.Arg201Lys)	SUPT16H (R201K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503157	NM_007192.4(SUPT16H):c.2065T>G (p.Phe689Val)	SUPT16H (F689V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502525	NM_007192.4(SUPT16H):c.277G>A (p.Gly93Ser)	SUPT16H (G93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502076	NM_007192.4(SUPT16H):c.1871T>A (p.Ile624Asn)	SUPT16H (I624N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498589	NM_007192.4(SUPT16H):c.56G>C (p.Ser19Thr)	SUPT16H (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498588	NM_007192.4(SUPT16H):c.2957G>A (p.Ser986Asn)	SUPT16H (S986N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444812	NM_007192.4(SUPT16H):c.2561A>G (p.Asn854Ser)	SUPT16H (N854S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436523	NM_007192.4(SUPT16H):c.973G>A (p.Val325Met)	SUPT16H (V325M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2431745	NM_007192.4(SUPT16H):c.2383C>G (p.Leu795Val)	SUPT16H (L795V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 2430564	NM_007192.4(SUPT16H):c.1705C>T (p.Arg569Ter)	SUPT16H (R569*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2426543	NC_000014.8:g.(?_21671278)_(22005055_?)dup	CHD8, HNRNPC +6 more	Duplication	Cone-rod dystrophy 13 +1 more	GUncertain significance
Select item 2423917	NC_000014.8:g.(?_21792757)_(21899802_?)del	CHD8, RPGRIP1 +1 more	Deletion	not provided	GPathogenic
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2404303	NM_007192.4(SUPT16H):c.3086G>A (p.Arg1029His)	LOC126861887, SUPT16H (R1029H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269621	NM_007192.4(SUPT16H):c.2938T>A (p.Leu980Met)	SUPT16H (L980M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259773	NM_007192.4(SUPT16H):c.1100A>G (p.Asn367Ser)	SUPT16H (N367S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258946	NM_007192.4(SUPT16H):c.2945G>A (p.Ser982Asn)	SUPT16H (S982N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236839	NM_007192.4(SUPT16H):c.3125C>T (p.Pro1042Leu)	LOC126861887, SUPT16H (P1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219695	NM_007192.4(SUPT16H):c.332A>C (p.Asn111Thr)	SUPT16H (N111T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213586	NM_007192.4(SUPT16H):c.977A>T (p.Tyr326Phe)	SUPT16H (Y326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1896578	NM_007192.4(SUPT16H):c.1070G>T (p.Arg357Leu)	SUPT16H (R357L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809420	GRCh37/hg19 14q11.2(chr14:21496133-21962265)x3	ARHGEF40, CHD8 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1804602	NM_007192.4(SUPT16H):c.625G>T (p.Asp209Tyr)	SUPT16H (D209Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800887	NM_007192.4(SUPT16H):c.2245A>G (p.Thr749Ala)	SUPT16H (T749A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712172	NM_007192.4(SUPT16H):c.554A>C (p.Lys185Thr)	SUPT16H (K185T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710860	NM_007192.4(SUPT16H):c.1868G>A (p.Arg623Gln)	SUPT16H (R623Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710559	NM_007192.4(SUPT16H):c.2002C>T (p.Arg668Cys)	SUPT16H (R668C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708725	NM_007192.4(SUPT16H):c.1835C>T (p.Thr612Ile)	SUPT16H (T612I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708473	NM_007192.4(SUPT16H):c.1775C>T (p.Ala592Val)	SUPT16H (A592V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 1707996	NM_007192.4(SUPT16H):c.2849C>T (p.Pro950Leu)	SUPT16H (P950L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706772	NM_007192.4(SUPT16H):c.989T>C (p.Met330Thr)	SUPT16H (M330T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1700349	NM_007192.4(SUPT16H):c.2078G>A (p.Arg693Gln)	SUPT16H (R693Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1697150	NM_007192.4(SUPT16H):c.551A>G (p.Lys184Arg)	SUPT16H (K184R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696860	NM_007192.4(SUPT16H):c.1091A>G (p.Asn364Ser)	SUPT16H (N364S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 1691274	NM_007192.4(SUPT16H):c.2539C>T (p.Arg847Trp)	SUPT16H (R847W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GLikely pathogenic
Select item 1679768	NM_007192.4(SUPT16H):c.548T>C (p.Met183Thr)	SUPT16H (M183T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1676404	NM_007192.4(SUPT16H):c.2791-2A>C	SUPT16H	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527802	GRCh37/hg19 14q11.2(chr14:21451544-21962317)	ARHGEF40, CHD8 +15 more	Copy number gain	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 1321953	NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys)	SUPT16H (E839K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1314807	NM_007192.4(SUPT16H):c.1345G>A (p.Asp449Asn)	SUPT16H (D449N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309018	NM_007192.4(SUPT16H):c.793C>T (p.His265Tyr)	SUPT16H (H265Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306719	NM_007192.4(SUPT16H):c.2206A>G (p.Thr736Ala)	SUPT16H (T736A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303685	NM_007192.4(SUPT16H):c.2958del (p.Ser986fs)	SUPT16H (S986fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1199251	NM_007192.4(SUPT16H):c.1295T>C (p.Leu432Pro)	SUPT16H (L432P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GPathogenic
Select item 1199250	NM_007192.4(SUPT16H):c.1712A>G (p.Asn571Ser)	SUPT16H (N571S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GPathogenic
Select item 1199249	NM_007192.4(SUPT16H):c.2200C>T (p.Arg734Trp)	SUPT16H (R734W)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GLikely pathogenic
Select item 1176981	NM_007192.4(SUPT16H):c.1138A>G (p.Asn380Asp)	SUPT16H (N380D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075073	NC_000014.8:g.(?_21756136)_(22005055_?)del	CHD8, METTL3 +5 more	Deletion	Leber congenital amaurosis 6 +1 more	GPathogenic
Select item 996977	NM_007192.4(SUPT16H):c.832C>T (p.Arg278Cys)	SUPT16H (R278C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815632	GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1	HNRNPC, RAB2B +6 more	Copy number loss	not provided	GPathogenic
Select item 815631	GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1	CHD8, SALL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 785453	NM_007192.4(SUPT16H):c.783-6C>G	SUPT16H	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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