51621[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151938	GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4	APBA2, ARHGAP11A +264 more	Copy number gain	See cases	GPathogenic
Select item 58569	GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3	APBA2, ARHGAP11B +254 more	Copy number gain	See cases	GPathogenic
Select item 545163	Single allele	APBA2, ARHGAP11B +228 more	Duplication	Autism	GPathogenic
Select item 3062003	GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118)	APBA2, ARHGAP11B +227 more	Copy number gain	15q11q13 microduplication syndrome	GPathogenic
Select item 150806	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32217731)x3	APBA2, CHRFAM7A +205 more	Copy number gain	See cases	GPathogenic
Select item 149631	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 149258	GRCh38/hg38 15q11.2-13.1(chr15:23319714-32384654)x1	APBA2, ARHGAP11B +205 more	Copy number loss	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57412	GRCh38/hg38 15q11.2-13.3(chr15:23319714-32607357)x3	APBA2, ARHGAP11A-DT +212 more	Copy number gain	See cases	GPathogenic
Select item 155586	GRCh38/hg38 15q11.2-13.3(chr15:23328044-32151843)x3	APBA2, ARHGAP11B +205 more	Copy number gain	See cases	GPathogenic
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 57008	GRCh38/hg38 15q13.1-13.3(chr15:28314197-32343758)x1	TRPM1, APBA2 +61 more	Copy number loss	See cases	GPathogenic
Select item 149216	GRCh38/hg38 15q13.1-13.3(chr15:28730988-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 150590	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32222779)x1	APBA2, ARHGAP11B +52 more	Copy number loss	See cases	GPathogenic
Select item 149232	GRCh38/hg38 15q13.1-13.3(chr15:28744504-32275124)x3	APBA2, ARHGAP11B +52 more	Copy number gain	See cases	GUncertain significance
Select item 58636	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32149250)x1	APBA2, ARHGAP11B +51 more	Copy number loss	See cases	GPathogenic
Select item 57600	GRCh38/hg38 15q13.1-13.3(chr15:28918473-32606466)x3	APBA2, ARHGAP11A-DT +58 more	Copy number gain	See cases	GUncertain significance
Select item 144260	GRCh38/hg38 15q13.1-13.3(chr15:28961114-32343758)x3	APBA2, ARHGAP11B +51 more	Copy number gain	See cases	GUncertain significance
Select item 153169	GRCh38/hg38 15q13.2-13.3(chr15:30094195-32151843)x3	ARHGAP11B, ARHGAP11B-DT +37 more	Copy number gain	See cases	GUncertain significance
Select item 58650	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32606466)x1	ARHGAP11A-DT, ARHGAP11B +43 more	Copy number loss	See cases	GPathogenic
Select item 57602	GRCh38/hg38 15q13.2-13.3(chr15:30109224-32149250)x3	ARHGAP11B, ARHGAP11B-DT +36 more	Copy number gain	See cases	GUncertain significance
Select item 152983	GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number loss	See cases	GPathogenic
Select item 152978	GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
Select item 147838	GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GPathogenic
Select item 545177	NC_000015.10:g.(?_30325774)_(32194551_?)del	ARHGAP11B, ARHGAP11B-DT +34 more	Deletion	Schizophrenia	GPathogenic
Select item 146727	GRCh38/hg38 15q13.2-13.3(chr15:30361656-32150923)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GPathogenic
Select item 160928	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	GUncertain significance
Select item 160914	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
Select item 160801	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x1	ARHGAP11A-DT, FAN1 +41 more	Copy number loss	See cases	GPathogenic
Select item 154602	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x3	ARHGAP11B, ARHGAP11B-DT +38 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 148191	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32621998)x1	LOC128899999, LOC129390679 +43 more	Copy number loss	See cases	GPathogenic
Select item 148179	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32414682)x3	ARHGAP11B, ARHGAP11B-DT +36 more	Copy number gain	See cases	GPathogenic
Select item 147433	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32569425)x1	FAN1, ARHGAP11B +38 more	Copy number loss	See cases	GPathogenic
Select item 146512	GRCh38/hg38 15q13.2-13.3(chr15:30361674-31572487)x3	ARHGAP11B, ARHGAP11B-DT +29 more	Copy number gain	See cases	GPathogenic
Select item 146427	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32222779)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GUncertain significance
Select item 58654	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32326182)x1	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number loss	See cases	GPathogenic
Select item 57845	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32630901)x1	ARHGAP11A, ARHGAP11A-DT +43 more	Copy number loss	See cases	GPathogenic
Select item 57604	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32343758)x3	ARHGAP11B, ARHGAP11B-DT +34 more	Copy number gain	See cases	GUncertain significance
Select item 32396	GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3	ARHGAP11A-DT, ARHGAP11B +41 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 161076	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x1	ARHGAP11B, ARHGAP11B-DT +35 more	Copy number loss	See cases	GPathogenic
Select item 160948	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	ARHGAP11B, ARHGAP11B-DT +35 more	Copy number gain	See cases	GUncertain significance
Select item 146129	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32607357)x3	ARHGAP11A-DT, KLF13 +38 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 56994	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32217725)x1	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 33394	GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3	LINC02256, ARHGAP11B +35 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 545178	Single allele	LOC130056726, LOC130056727 +31 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 160802	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 152016	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x1	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 152015	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32222779)x3	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number gain	See cases	GUncertain significance
Select item 148789	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32621998)x3	ARHGAP11A, ARHGAP11A-DT +40 more	Copy number gain	See cases	GUncertain significance
Select item 58674	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32343758)x1	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 33302	GRCh38/hg38 15q13.2-13.3(chr15:30527262-32217725)x1	ARHGAP11B, ARHGAP11B-DT +31 more	Copy number loss	See cases	GPathogenic
Select item 545181	NC_000015.10:g.(?_30568981)_(32318632_?)del	ARHGAP11B, ARHGAP11B-DT +29 more	Deletion	Autism	GPathogenic
Select item 545180	Single allele	LOC106736480, LOC106783506 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545179	NC_000015.10:g.(?_30568981)_(32151126_?)del	LINC02352, LOC106736468 +29 more	Deletion	Autism	GPathogenic
Select item 58675	GRCh38/hg38 15q13.2-13.3(chr15:30592358-32121422)x1	ARHGAP11B, ARHGAP11B-DT +28 more	Copy number loss	See cases	GPathogenic
Select item 58676	GRCh38/hg38 15q13.2-13.3(chr15:30614351-32606466)x1	ARHGAP11A-DT, ARHGAP11B +35 more	Copy number loss	See cases	GPathogenic
Select item 154013	GRCh38/hg38 15q13.2-13.3(chr15:30621371-32147323)x3	ARHGAP11B, ARHGAP11B-DT +27 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 153953	GRCh38/hg38 15q13.2-13.3(chr15:30621371-32151912)x3	KLF13, ARHGAP11B +27 more	Copy number gain	See cases	GUncertain significance
Select item 1703232	Single allele	LOC129390680, LOC130056726 +25 more	Deletion	Chromosome 15q13.3 microdeletion syndrome	GPathogenic
Select item 155195	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32275124)x1	ARHGAP11B, CHRNA7 +24 more	Copy number loss	See cases	GPathogenic
Select item 154742	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x3	ARHGAP11B, LINC03034 +24 more	Copy number gain	See cases	GUncertain significance
Select item 154741	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32222779)x1	ARHGAP11B, CHRNA7 +24 more	Copy number loss	See cases	GPathogenic
Select item 154725	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32569425)x3	ARHGAP11B, CHRNA7 +28 more	Copy number gain	See cases	GPathogenic
Select item 150297	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x1	ARHGAP11B, LINC03034 +24 more	Copy number loss	See cases	GPathogenic
Select item 150295	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32247465)x3	ARHGAP11B, CHRNA7 +24 more	Copy number gain	See cases	GUncertain significance
Select item 149194	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32621998)x1	ARHGAP11A, ARHGAP11A-DT +33 more	Copy number loss	See cases	GPathogenic
Select item 148461	GRCh38/hg38 15q13.2-13.3(chr15:30629714-32326182)x3	ARHGAP11B, CHRNA7 +24 more	Copy number gain	See cases	GUncertain significance
Select item 58679	GRCh38/hg38 15q13.2-13.3(chr15:30634533-32121422)x1	ARHGAP11B, CHRNA7 +23 more	Copy number loss	See cases	GPathogenic
Select item 57617	GRCh38/hg38 15q13.2-13.3(chr15:30640878-32222779)x3	ARHGAP11B, CHRNA7 +24 more	Copy number gain	See cases	GUncertain significance
Select item 150479	GRCh38/hg38 15q13.2-13.3(chr15:30662521-32569411)x1	CHRNA7, FAN1 +27 more	Copy number loss	See cases	GPathogenic
Select item 150474	GRCh38/hg38 15q13.2-13.3(chr15:30662521-32150923)x1	CHRNA7, FAN1 +23 more	Copy number loss	See cases	GPathogenic
Select item 145454	GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x1	CHRNA7, FAN1 +23 more	Copy number loss	See cases	GPathogenic
Select item 145453	GRCh38/hg38 15q13.2-13.3(chr15:30662521-32217731)x3	LINC03034, CHRNA7 +23 more	Copy number gain	See cases	GUncertain significance
Select item 160972	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	CHRNA7, FAN1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 160803	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	CHRNA7, FAN1 +23 more	Copy number loss	See cases	GPathogenic
Select item 57024	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32607357)x1	KLF13, LINC02256 +30 more	Copy number loss	See cases	GPathogenic
Select item 34104	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x3	CHRNA7, FAN1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 32642	GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1	CHRNA7, FAN1 +23 more	Copy number loss	See cases	GPathogenic
Select item 146123	GRCh38/hg38 15q13.2-13.3(chr15:30750713-32607357)x1	ARHGAP11A-DT, CHRNA7 +29 more	Copy number loss	See cases	GPathogenic
Select item 58683	GRCh38/hg38 15q13.2-13.3(chr15:30750713-32217725)x1	CHRNA7, FAN1 +22 more	Copy number loss	See cases	GPathogenic
Select item 155680	GRCh38/hg38 15q13.2-13.3(chr15:30781465-32154629)x1	CHRNA7, FAN1 +22 more	Copy number loss	See cases	GPathogenic
Select item 155432	GRCh38/hg38 15q13.2-13.3(chr15:30781466-32154629)x3	CHRNA7, FAN1 +22 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 154195	GRCh38/hg38 15q13.2-13.3(chr15:30781532-32154629)x1	CHRNA7, FAN1 +22 more	Copy number loss	See cases	GPathogenic
Select item 152611	GRCh38/hg38 15q13.2-13.3(chr15:30797731-32170441)x1	CHRNA7, FAN1 +22 more	Copy number loss	See cases	GPathogenic
Select item 146004	GRCh38/hg38 15q13.2-13.3(chr15:30797731-32150818)x3	CHRNA7, FAN1 +22 more	Copy number gain	See cases	GPathogenic
Select item 58698	GRCh38/hg38 15q13.2-13.3(chr15:30822844-32606466)x1	ARHGAP11A-DT, GOLGA8O +29 more	Copy number loss	See cases	GPathogenic
Select item 58684	GRCh38/hg38 15q13.2-13.3(chr15:30822844-32149250)x1	CHRNA7, FAN1 +22 more	Copy number loss	See cases	GPathogenic
Select item 2499650	GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	CHRNA7, FAN1 +21 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2286068	NM_015995.4(KLF13):c.8C>T (p.Ala3Val)	KLF13 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715460	NM_015995.4(KLF13):c.27C>T (p.His9=)	KLF13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734014	NM_015995.4(KLF13):c.57G>A (p.Ser19=)	KLF13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3115285	NM_015995.4(KLF13):c.89G>A (p.Gly30Glu)	KLF13 (G30E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301027	NM_015995.4(KLF13):c.95A>G (p.Glu32Gly)	KLF13 (E32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324146	NM_015995.4(KLF13):c.103C>G (p.Pro35Ala)	KLF13 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358552	NM_015995.4(KLF13):c.116C>T (p.Ala39Val)	KLF13 (A39V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229678	NM_015995.4(KLF13):c.127A>C (p.Thr43Pro)	KLF13 (T43P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231483	NM_015995.4(KLF13):c.133A>C (p.Thr45Pro)	KLF13 (T45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115277	NM_015995.4(KLF13):c.196C>T (p.Arg66Trp)	KLF13 (R66W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115278	NM_015995.4(KLF13):c.239C>T (p.Pro80Leu)	KLF13 (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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