10771[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59397	GRCh38/hg38 10p15.3(chr10:14062-622709)x1	DIP2C, LOC102723376 +14 more	Copy number loss	See cases	GUncertain significance
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	LINC02645, LINC02648 +496 more	Copy number gain	See cases	GPathogenic
Select item 154088	GRCh38/hg38 10p15.3(chr10:54086-1600803)x1	ADARB2, ADARB2-AS1 +54 more	Copy number loss	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150324	GRCh38/hg38 10p15.3(chr10:70478-1042794)x1	DIP2C, DIP2C-AS1 +32 more	Copy number loss	See cases	GLikely pathogenic
Select item 150117	GRCh38/hg38 10p15.3(chr10:70478-770688)x1	DIP2C, DIP2C-AS1 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC124403900, LOC124403901 +520 more	Copy number loss	See cases	GPathogenic
Select item 148516	GRCh38/hg38 10p15.3(chr10:70478-457520)x1	DIP2C, LOC124403897 +12 more	Copy number loss	See cases	GUncertain significance
Select item 148280	GRCh38/hg38 10p15.3(chr10:70478-312686)x1	DIP2C, LOC124403897 +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 145929	GRCh38/hg38 10p15.3(chr10:73856-182858)x3	LOC124403897, LOC130003151 +3 more	Copy number gain	See cases	GLikely benign
Select item 58711	GRCh38/hg38 10p15.3(chr10:87458-2482736)x1	ADARB2, ADARB2-AS1 +66 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 146357	GRCh38/hg38 10p15.3(chr10:90421-306173)x3	DIP2C, LOC124403897 +4 more	Copy number gain	See cases	GUncertain significance
Select item 146280	GRCh38/hg38 10p15.3-15.2(chr10:90421-3058742)x1	ADARB2, ADARB2-AS1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC132089789, LOC132089790 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 153334	GRCh38/hg38 10p15.3(chr10:113358-557294)x1	DIP2C, LOC106783507 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2672254	NM_006624.7(ZMYND11):c.-20+114C>A	ZMYND11	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 149306	GRCh38/hg38 10p15.3(chr10:167511-286467)x3	LOC130003153, ZMYND11 +3 more	Copy number gain	See cases	GUncertain significance
Select item 2442370	NM_001370100.5(ZMYND11):c.4G>A (p.Ala2Thr)	ZMYND11 (A2T)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal dominant 30	GLikely pathogenic
Select item 2907981	NM_001370100.5(ZMYND11):c.8G>A (p.Arg3His)	ZMYND11 (R3H)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2488659	NM_001370100.5(ZMYND11):c.20G>C (p.Arg7Thr)	ZMYND11 (R7T)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 393552	NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter)	ZMYND11 (R8*)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal dominant 30 +1 more	GPathogenic
Select item 450833	NM_001370100.5(ZMYND11):c.28G>A (p.Ala10Thr)	ZMYND11 (A10T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2792928	NM_001370100.5(ZMYND11):c.30G>A (p.Ala10=)	ZMYND11	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1064553	NM_001370100.5(ZMYND11):c.37A>G (p.Lys13Glu)	ZMYND11 (K13E)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal dominant 30 +1 more	GUncertain significance
Select item 523901	NM_001370100.5(ZMYND11):c.46C>T (p.Gln16Ter)	ZMYND11 (Q16*)	Single nucleotide variant (nonsense +3 more)	not provided	GPathogenic
Select item 2438665	NM_001370100.5(ZMYND11):c.64A>G (p.Ile22Val)	ZMYND11 (I22V)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GUncertain significance
Select item 431123	NM_001370100.5(ZMYND11):c.76C>T (p.Arg26Trp)	ZMYND11 (R26W)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal dominant 30	GPathogenic
Select item 451936	NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter)	ZMYND11 (Q28*)	Single nucleotide variant (nonsense +3 more)	Intellectual disability, autosomal dominant 30 +1 more	GPathogenic
Select item 1311066	NM_001370100.5(ZMYND11):c.101T>C (p.Ile34Thr)	ZMYND11 (I34T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2430310	NM_001370100.5(ZMYND11):c.106C>T (p.Arg36Cys)	ZMYND11 (R36C)	Single nucleotide variant (missense variant +3 more)	See cases	GUncertain significance
Select item 144522	GRCh38/hg38 10p15.3(chr10:180143-245622)x3	ZMYND11	Copy number gain	See cases	GBenign
Select item 57851	GRCh38/hg38 10p15.3(chr10:180143-550594)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2781826	NM_001370100.5(ZMYND11):c.116+18C>T	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971355	NM_001370100.5(ZMYND11):c.116+20A>G	ZMYND11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153860	GRCh38/hg38 10p15.3(chr10:200071-415409)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GUncertain significance
Select item 144219	GRCh38/hg38 10p15.3(chr10:202524-405073)x3	DIP2C, LOC126860802 +7 more	Copy number gain	See cases	GBenign
Select item 371816	NM_001370100.5(ZMYND11):c.117-4238T>A	ZMYND11	Single nucleotide variant (intron variant)	Paragangliomas 5	GUncertain significance
Select item 1696759	NM_001370100.5(ZMYND11):c.117-534_276+3387dup	ZMYND11	Duplication (splice acceptor variant +3 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 1977357	NM_001370100.5(ZMYND11):c.117-19G>T	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971215	NM_001370100.5(ZMYND11):c.117-19G>A	ZMYND11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444205	NM_001370100.5(ZMYND11):c.128G>C (p.Arg43Pro)	ZMYND11 (R21P +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 1708354	NM_001370100.5(ZMYND11):c.128G>A (p.Arg43Gln)	ZMYND11 (R21Q +3 more)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 1310029	NM_001370100.5(ZMYND11):c.130G>A (p.Val44Ile)	ZMYND11 (V22I +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2806539	NM_001370100.5(ZMYND11):c.136G>A (p.Gly46Ser)	ZMYND11 (G29S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1711251	NM_001370100.5(ZMYND11):c.137G>A (p.Gly46Asp)	ZMYND11 (G24D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2438662	NM_001370100.5(ZMYND11):c.142C>T (p.His48Tyr)	ZMYND11 (H26Y +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 2069868	NM_001370100.5(ZMYND11):c.145C>G (p.Pro49Ala)	ZMYND11 (P27A +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2576855	NM_001370100.5(ZMYND11):c.185A>T (p.Asp62Val)	ZMYND11 (D22V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2505109	NM_001370100.5(ZMYND11):c.185A>G (p.Asp62Gly)	ZMYND11 (D22G +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	Gnot provided
Select item 2073511	NM_001370100.5(ZMYND11):c.198C>T (p.Val66=)	ZMYND11	Single nucleotide variant (synonymous variant +2 more)	ZMYND11-related condition +1 more	GBenign/Likely benign
Select item 157551	NM_001370100.5(ZMYND11):c.206dup (p.Thr70fs)	ZMYND11 (T30fs +3 more)	Duplication (frameshift variant +2 more)	Intellectual disability, autosomal dominant 30	GPathogenic
Select item 742998	NM_001370100.5(ZMYND11):c.210A>G (p.Thr70=)	ZMYND11	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1701861	NM_001370100.5(ZMYND11):c.220A>G (p.Lys74Glu)	ZMYND11 (K34E +3 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1703461	NM_001370100.5(ZMYND11):c.239T>A (p.Ile80Asn)	ZMYND11 (I40N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 521278	NM_001370100.5(ZMYND11):c.251G>T (p.Gly84Val)	ZMYND11 (G84V +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2430481	NM_001370100.5(ZMYND11):c.254A>C (p.Tyr85Ser)	ZMYND11 (Y45S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2640264	NM_001370100.5(ZMYND11):c.277-2718C>T	ZMYND11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2888819	NM_001370100.5(ZMYND11):c.277-4G>A	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1712277	NM_001370100.5(ZMYND11):c.349C>G (p.Leu117Val)	ZMYND11 (L100V +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 2720047	NM_001370100.5(ZMYND11):c.358C>T (p.Arg120Cys)	ZMYND11 (R103C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2502594	NM_001370100.5(ZMYND11):c.373A>G (p.Lys125Glu)	ZMYND11 (K103E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 431092	NM_001370100.5(ZMYND11):c.383del (p.Ser128fs)	ZMYND11 (S128fs +3 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal dominant 30	GPathogenic
Select item 1803376	NM_001370100.5(ZMYND11):c.413G>A (p.Ser138Asn)	ZMYND11 (S116N +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2001153	NM_001370100.5(ZMYND11):c.423G>C (p.Gln141His)	ZMYND11 (Q119H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1801409	NM_001370100.5(ZMYND11):c.438+4276_438+4325del	ZMYND11	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 155262	GRCh38/hg38 10p15.3(chr10:232912-578344)x4	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 1972022	NM_001370100.5(ZMYND11):c.439-19_439-17del	ZMYND11	Deletion (intron variant)	not provided	GLikely benign
Select item 2108972	NM_001370100.5(ZMYND11):c.439-19A>G	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974540	NM_001370100.5(ZMYND11):c.439-16_439-14del	ZMYND11	Deletion (intron variant)	not provided	GLikely benign
Select item 2880300	NM_001370100.5(ZMYND11):c.439-16C>G	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873038	NM_001370100.5(ZMYND11):c.439-16C>T	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976587	NM_001370100.5(ZMYND11):c.439-7dup	ZMYND11	Duplication (intron variant)	not provided	GBenign
Select item 1342464	NM_001370100.5(ZMYND11):c.439-7T>A	ZMYND11	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 2807434	NM_001370100.5(ZMYND11):c.439-3T>C	ZMYND11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1032470	NM_001370100.5(ZMYND11):c.440G>C (p.Ser147Thr)	ZMYND11 (S107T +7 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 2195511	NM_001370100.5(ZMYND11):c.447GAA[2] (p.Lys151del)	ZMYND11 (K134del +7 more)	Microsatellite (inframe_indel +3 more)	not provided	GUncertain significance
Select item 373104	NM_001370100.5(ZMYND11):c.464_467del (p.Lys155fs)	ZMYND11 (K133fs +7 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 988394	NM_001370100.5(ZMYND11):c.466C>T (p.Gln156Ter)	ZMYND11 (Q102* +7 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 391511	NM_001370100.5(ZMYND11):c.478A>C (p.Thr160Pro)	ZMYND11 (T160P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1185452	NM_001370100.5(ZMYND11):c.516+42C>T	ZMYND11	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 30	GBenign
Select item 2136114	NM_001370100.5(ZMYND11):c.517G>A (p.Ala173Thr)	ZMYND11 (A151T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2229438	NM_001370100.5(ZMYND11):c.539G>T (p.Gly180Val)	ZMYND11 (G109V +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2877599	NM_001370100.5(ZMYND11):c.546C>G (p.Asp182Glu)	ZMYND11 (D160E +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1700968	NM_001370100.5(ZMYND11):c.556C>A (p.Pro186Thr)	ZMYND11 (P110T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 157554	NM_001370100.5(ZMYND11):c.561del (p.Met187fs)	ZMYND11 (M170fs +8 more)	Deletion (frameshift variant +2 more)	Intellectual disability, autosomal dominant 30	GPathogenic
Select item 1980541	NM_001370100.5(ZMYND11):c.570G>T (p.Arg190Ser)	ZMYND11 (R150S +8 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2126973	NM_001370100.5(ZMYND11):c.583G>A (p.Ala195Thr)	ZMYND11 (A101T +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1330253	NM_001370100.5(ZMYND11):c.584C>T (p.Ala195Val)	ZMYND11 (A101V +8 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal dominant 30	GUncertain significance
Select item 2881564	NM_001370100.5(ZMYND11):c.595C>G (p.Pro199Ala)	ZMYND11 (P128A +8 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 744950	NM_001370100.5(ZMYND11):c.609+5del	ZMYND11	Deletion (intron variant)	not provided	GLikely benign
Select item 2904007	NM_001370100.5(ZMYND11):c.609+8C>T	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877755	NM_001370100.5(ZMYND11):c.609+18T>A	ZMYND11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 871340	NM_001370100.5(ZMYND11):c.613_616del (p.Val205fs)	ZMYND11 (V205fs +9 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 437337	NM_001370100.5(ZMYND11):c.612A>G (p.Lys204=)	ZMYND11	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign

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