ClinVar for Gene (Select 116225) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334846	NM_138462.3(ZMYND19):c.202C>T (p.Leu68Phe)	ZMYND19 (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334845	NM_138462.3(ZMYND19):c.422T>G (p.Phe141Cys)	ZMYND19 (F141C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242302	GRCh37/hg19 9q34.3(chr9:140396737-140574545)x1	ARRDC1, DPH7 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 3238732	GRCh38/hg38 9q34.3(chr9:137716626-138059189)	ARRDC1, ARRDC1-AS1 +36 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238728	GRCh38/hg38 9q34.3(chr9:137574569-138112014)	ARRDC1, ARRDC1-AS1 +42 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238727	GRCh38/hg38 9q34.3(chr9:137467316-137778055)	ARRDC1, ARRDC1-AS1 +37 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238726	GRCh38/hg38 9q34.3(chr9:137505613-138394717)	ARRDC1, ARRDC1-AS1 +49 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238725	GRCh38/hg38 9q34.3(chr9:135338745-138124196)	ABCA2, AGPAT2 +344 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238724	GRCh38/hg38 9q34.3(chr9:137757880-137971592)	ARRDC1, ARRDC1-AS1 +40 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238720	GRCh38/hg38 9q34.3(chr9:137456472-138100471)	ARRDC1, ARRDC1-AS1 +52 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238719	GRCh38/hg38 9q34.3(chr9:136993278-138200863)	LOC130003071, LOC130003072 +154 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238717	GRCh38/hg38 9q34.3(chr9:137170000-138360000)	ANAPC2, ARRDC1 +114 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238715	GRCh38/hg38 9q34.3(chr9:137522728-137619049)	ARRDC1, ARRDC1-AS1 +24 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238713	GRCh38/hg38 9q34.3(chr9:137710967-137917437)	ARRDC1, ARRDC1-AS1 +33 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238712	GRCh38/hg38 9q34.3(chr9:137574569-138212068)	ARRDC1, ARRDC1-AS1 +43 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238711	GRCh38/hg38 9q34.3(chr9:137375729-137696525)	ARRDC1, ARRDC1-AS1 +44 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238710	GRCh38/hg38 9q34.3(chr9:137361253-138125937)	ARRDC1, ARRDC1-AS1 +67 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238709	GRCh38/hg38 9q34.3(chr9:136684941-138124673)	ABCA2, AGPAT2 +227 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238708	GRCh38/hg38 9q34.3(chr9:135791488-138262981)	ABCA2, AGPAT2 +325 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238707	GRCh38/hg38 9q34.3(chr9:135203306-138100471)	LOC130003123, LOC130003124 +345 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238703	GRCh38/hg38 9q34.3(chr9:137508905-137701735)	ARRDC1, ARRDC1-AS1 +24 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238702	GRCh38/hg38 9q34.3(chr9:136869696-138172039)	ABCA2, ANAPC2 +176 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238701	GRCh38/hg38 9q34.2-34.3(chr9:134288333-138155727)	ABCA2, AGPAT2 +388 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238700	GRCh38/hg38 9q34.3(chr9:136032451-138125938)	LOC130003044, LOC130003045 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238697	GRCh38/hg38 9q34.3(chr9:135008333-138199729)	ABCA2, AGPAT2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238695	GRCh38/hg38 9q34.3(chr9:137059436-137902321)	ANAPC2, ARRDC1 +136 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238694	GRCh38/hg38 9q34.3(chr9:135204722-138394717)	EHMT1, ENTPD2 +347 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238693	GRCh38/hg38 9q34.3(chr9:138125938-138394717)	ARRDC1, ARRDC1-AS1 +48 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238692	GRCh38/hg38 9q34.3(chr9:137505548-138105548)	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238691	GRCh38/hg38 9q34.3(chr9:137456472-137656656)	ARRDC1, ARRDC1-AS1 +27 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238690	GRCh38/hg38 9q34.3(chr9:136817307-138133487)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238689	GRCh38/hg38 9q34.3(chr9:134642187-138121999)	ABCA2, AGPAT2 +367 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238688	GRCh38/hg38 9q34.3(chr9:137106653-138394717)	ANAPC2, ARRDC1 +128 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238685	GRCh38/hg38 9q34.3(chr9:137423394-137619049)	ARRDC1, ARRDC1-AS1 +32 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238684	GRCh38/hg38 9q34.3(chr9:137615331-137619049)	ARRDC1, ARRDC1-AS1 +14 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238683	GRCh38/hg38 9q34.3(chr9:136806104-138394717)	LOC130003043, LOC130003044 +199 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238682	GRCh38/hg38 9q34.3(chr9:137569711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238681	GRCh38/hg38 9q34.3(chr9:137552082-138394717)	ABCA2, ANAPC2 +168 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238680	GRCh38/hg38 9q34.3(chr9:137581196-137718242)	ARRDC1, ARRDC1-AS1 +18 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238676	GRCh38/hg38 9q34.3(chr9:137272928-137711050)	ARRDC1, ARRDC1-AS1 +71 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238674	GRCh38/hg38 9q34.3(chr9:137522728-137552409)	ARRDC1, ARRDC1-AS1 +24 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238672	GRCh38/hg38 9q34.3(chr9:137529711-138129711)	ABCA2, AJM1 +193 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238669	GRCh38/hg38 9q34.3(chr9:135954288-138125938)	LOC130003073, LOC130003074 +310 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238665	GRCh38/hg38 9q34.3(chr9:137710967-138069763)	ARRDC1, ARRDC1-AS1 +46 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238661	GRCh38/hg38 9q34.3(chr9:137710967-137817525)	ARRDC1, ARRDC1-AS1 +27 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238660	GRCh38/hg38 9q34.3(chr9:137552081-137879159)	ARRDC1, ARRDC1-AS1 +40 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238659	GRCh38/hg38 9q34.3(chr9:135182209-138129711)	UBAC1, ZMYND19 +346 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238658	GRCh38/hg38 9q34.3(chr9:135969078-138104469)	LOC126860801, LOC129390118 +309 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3193856	NM_138462.3(ZMYND19):c.637C>T (p.Arg213Trp)	ZMYND19 (R213W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193855	NM_138462.3(ZMYND19):c.313C>T (p.Pro105Ser)	ZMYND19 (P105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193853	NM_138462.3(ZMYND19):c.287A>G (p.Asn96Ser)	ZMYND19 (N96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193852	NM_138462.3(ZMYND19):c.230G>T (p.Arg77Leu)	ZMYND19 (R77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2671589	Single allele	ARRDC1, CACNA1B +6 more	Deletion	not provided	GPathogenic
Select item 2576638	GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3	ARRDC1, CACNA1B +7 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576637	GRCh37/hg19 9q34.3(chr9:140372234-140905328)x3	ARRDC1, CACNA1B +6 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576636	GRCh37/hg19 9q34.3(chr9:140452620-140776505)x3	CACNA1B, ARRDC1 +4 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576635	GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	DPH7, NSMF +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576634	GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	ARRDC1, DPH7 +8 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576633	GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	ZMYND19, ARRDC1 +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	NOXA1, NPDC1 +85 more	Deletion	Adams-Oliver syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425750	NC_000009.11:g.(?_140040158)_(141016451_?)del	DPH7, MRPL41 +28 more	Deletion	Intellectual disability, autosomal dominant 8 +1 more	GConflicting classifications of pathogenicity
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	ABCA2, AGPAT2 +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2405776	NM_138462.3(ZMYND19):c.223C>T (p.Arg75Trp)	ZMYND19 (R75W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222261	NM_138462.3(ZMYND19):c.678G>C (p.Glu226Asp)	ZMYND19 (E226D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218687	NM_138462.3(ZMYND19):c.271G>A (p.Ala91Thr)	ZMYND19 (A91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527569	GRCh37/hg19 9q34.3(chr9:140230197-140893129)	ARRDC1, CACNA1B +10 more	Copy number gain	not specified	GUncertain significance
Select item 1527564	GRCh37/hg19 9q34.3(chr9:138740078-141020389)	ABCA2, AGPAT2 +77 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341230	GRCh37/hg19 9q34.3(chr9:140475437-141020389)x3	ARRDC1, CACNA1B +3 more	Copy number gain	not provided	GUncertain significance
Select item 1341106	GRCh37/hg19 9q34.3(chr9:140357902-140602791)x3	ARRDC1, DPH7 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1047897	GRCh37/hg19 9q34.3(chr9:139284464-141018984)	RNF208, RNF224 +68 more	Copy number loss	Coarctation of aorta +1 more	GPathogenic
Select item 997822	Single allele	NDOR1, DPP7 +45 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 986753	NC_000009.11:g.(?_139018777)_(141018984_?)del	LINC02908, LOC651337 +73 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 980357	GRCh37/hg19 9q34.3(chr9:140458395-140638045)x1	EHMT1, ZMYND19 +2 more	Copy number loss	not provided	GPathogenic
Select item 831360	NC_000009.11:g.(?_138645763)_(140729425_?)del	ARRDC1, C8G +77 more	Deletion	Autosomal dominant nocturnal frontal lobe epilepsy 5 +2 more	GConflicting classifications of pathogenicity
Select item 830975	NC_000009.12:g.(?_137139467)_(137834973_?)del	ANAPC2, ARRDC1 +27 more	Deletion	Kleefstra syndrome 1	GPathogenic
Select item 815304	GRCh37/hg19 9q34.3(chr9:140401671-141020389)x1	ARRDC1, CACNA1B +6 more	Copy number loss	not provided	GPathogenic
Select item 813716	GRCh37/hg19 9q34.3(chr9:138225001-141015001)	ABCA2, AGPAT2 +88 more	Copy number loss	Microcephaly	GPathogenic
Select item 810490	GRCh37/hg19 9q34.3(chr9:140391637-140964215)x3	LOC651337, MRPL41 +6 more	Copy number gain	not provided	GUncertain significance
Select item 783564	NM_138462.3(ZMYND19):c.450T>C (p.Tyr150=)	ZMYND19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782710	NM_138462.3(ZMYND19):c.459C>T (p.Asn153=)	ZMYND19	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776487	NM_138462.3(ZMYND19):c.52-4C>T	ZMYND19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688731	GRCh37/hg19 9q34.3(chr9:140352402-140600693)x3	ARRDC1, DPH7 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686698	GRCh37/hg19 9q34.3(chr9:140064816-140759229)x3	ANAPC2, ARRDC1 +25 more	Copy number gain	not provided	GUncertain significance

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