11198[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 155

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58305	GRCh38/hg38 14q11.2(chr14:21058251-21384204)x3	ARHGEF40, HNRNPC +17 more	Copy number gain	See cases	GUncertain significance
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 3030422	NM_007192.4(SUPT16H):c.3022GAA[3] (p.Glu1011del)	LOC126861887, SUPT16H (E1011del)	Microsatellite	SUPT16H-related disorder	GLikely benign
Select item 3343626	NM_007192.4(SUPT16H):c.3019G>A (p.Glu1007Lys)	LOC126861887, SUPT16H (E1007K)	Single nucleotide variant (missense variant)	not provided	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 783683	NM_007192.4(SUPT16H):c.2973T>C (p.Asp991=)	SUPT16H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1303685	NM_007192.4(SUPT16H):c.2958del (p.Ser986fs)	SUPT16H (S986fs)	Deletion (frameshift 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 2258946	NM_007192.4(SUPT16H):c.2945G>A (p.Ser982Asn)	SUPT16H (S982N)	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 3323644	NM_007192.4(SUPT16H):c.2909C>T (p.Ala970Val)	SUPT16H (A970V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1676404	NM_007192.4(SUPT16H):c.2791-2A>C	SUPT16H	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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 3346693	NM_007192.4(SUPT16H):c.2585_2586delinsT (p.Lys862fs)	SUPT16H (K862fs)	Indel (frameshift variant)	SUPT16H-related disorder	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 2444812	NM_007192.4(SUPT16H):c.2561A>G (p.Asn854Ser)	SUPT16H (N854S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1321953	NM_007192.4(SUPT16H):c.2515G>A (p.Glu839Lys)	SUPT16H (E839K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	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 3254714	NM_007192.4(SUPT16H):c.2304G>A (p.Met768Ile)	SUPT16H (M768I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	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 3343836	NM_007192.4(SUPT16H):c.2218T>C (p.Phe740Leu)	SUPT16H (F740L)	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 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 784277	NM_007192.4(SUPT16H):c.2181C>T (p.Ala727=)	SUPT16H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3254761	NM_007192.4(SUPT16H):c.2087_2088del (p.Lys696fs)	SUPT16H (K696fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	GUncertain significance
Select item 1700349	NM_007192.4(SUPT16H):c.2078G>A (p.Arg693Gln)	SUPT16H (R693Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 2503157	NM_007192.4(SUPT16H):c.2065T>G (p.Phe689Val)	SUPT16H (F689V)	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 3352882	NM_007192.4(SUPT16H):c.1896T>C (p.Tyr632=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GLikely benign
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 1710860	NM_007192.4(SUPT16H):c.1868G>A (p.Arg623Gln)	SUPT16H (R623Q)	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 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 3252922	NM_007192.4(SUPT16H):c.1774G>A (p.Ala592Thr)	SUPT16H (A592T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336506	NM_007192.4(SUPT16H):c.1730G>A (p.Ser577Asn)	SUPT16H (S577N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2430564	NM_007192.4(SUPT16H):c.1705C>T (p.Arg569Ter)	SUPT16H (R569*)	Single nucleotide variant (nonsense)	not provided	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 3323645	NM_007192.4(SUPT16H):c.1669A>G (p.Ile557Val)	SUPT16H (I557V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3365142	NM_007192.4(SUPT16H):c.1430A>G (p.His477Arg)	SUPT16H (H477R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055917	NM_007192.4(SUPT16H):c.1368G>A (p.Arg456=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GBenign
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 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 2514723	NM_007192.4(SUPT16H):c.1282G>A (p.Val428Met)	SUPT16H (V428M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3363956	NM_007192.4(SUPT16H):c.1273_1274delinsTA (p.Val425Ter)	SUPT16H (V425*)	Indel (nonsense)	not provided	GUncertain significance
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 3059395	NM_007192.4(SUPT16H):c.1234-4C>T	SUPT16H	Single nucleotide variant (intron variant)	SUPT16H-related disorder	GBenign
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 3049512	NM_007192.4(SUPT16H):c.1194C>T (p.Thr398=)	SUPT16H	Single nucleotide variant (synonymous variant)	SUPT16H-related disorder	GBenign
Select item 3365734	NM_007192.4(SUPT16H):c.1188G>C (p.Glu396Asp)	SUPT16H (E396D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339558	NM_007192.4(SUPT16H):c.1188G>T (p.Glu396Asp)	SUPT16H (E396D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323643	NM_007192.4(SUPT16H):c.1163A>T (p.Asn388Ile)	SUPT16H (N388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3363949	NM_007192.4(SUPT16H):c.1156C>A (p.Leu386Met)	SUPT16H (L386M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3062176	NM_007192.4(SUPT16H):c.1114A>G (p.Lys372Glu)	SUPT16H (K372E)	Single nucleotide variant (missense variant)	See cases	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 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 3037670	NM_007192.4(SUPT16H):c.1087A>G (p.Ile363Val)	SUPT16H (I363V)	Single nucleotide variant (missense variant)	SUPT16H-related disorder	GLikely benign
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 2505913	NM_007192.4(SUPT16H):c.1056G>A (p.Met352Ile)	SUPT16H (M352I)	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 2213586	NM_007192.4(SUPT16H):c.977A>T (p.Tyr326Phe)	SUPT16H (Y326F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2513669	NM_007192.4(SUPT16H):c.967T>C (p.Cys323Arg)	SUPT16H (C323R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 545562	NM_007192.4(SUPT16H):c.956-1G>A	SUPT16H	Single nucleotide variant (splice acceptor variant)	Dextrocardia +1 more	GUncertain significance
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 2613507	NM_007192.4(SUPT16H):c.911T>G (p.Phe304Cys)	SUPT16H (F304C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3342335	NM_007192.4(SUPT16H):c.809C>G (p.Ala270Gly)	SUPT16H (A270G)	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 785453	NM_007192.4(SUPT16H):c.783-6C>G	SUPT16H	Single nucleotide variant (intron variant)	not provided	GBenign
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 2504853	NM_007192.4(SUPT16H):c.602G>A (p.Arg201Lys)	SUPT16H (R201K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2