KIAA0930[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 976870	NC_000022.11:g.43802117_50806121del	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 976875	NC_000022.11:g.44245760_50806121del	LOC121627953, LOC121627954 +411 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 3062348	GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	CHKB, LOC112695108 +404 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 144383	GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	ACR, ADM2 +401 more	Copy number loss	See cases	GPathogenic
Select item 976876	NC_000022.11:g.44702479_50806138del	CPT1B, CRELD2 +401 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 57672	GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147743	GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	ACR, ADM2 +396 more	Copy number loss	See cases	GPathogenic
Select item 147377	GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	ACR, ADM2 +396 more	Copy number gain	See cases	GPathogenic
Select item 57947	GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	LOC130067697, LOC130067698 +396 more	Copy number gain	See cases	GPathogenic
Select item 155419	GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3	ARHGAP8, ATXN10 +105 more	Copy number gain	See cases	GUncertain significance
Select item 3114133	NM_001009880.2(KIAA0930):c.1144G>A (p.Val382Ile)	KIAA0930 (V382I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288116	NM_001009880.2(KIAA0930):c.1096C>A (p.Leu366Met)	KIAA0930 (L366M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238002	NM_001009880.2(KIAA0930):c.1067G>A (p.Gly356Glu)	KIAA0930 (G356E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288114	NM_001009880.2(KIAA0930):c.989A>T (p.Glu330Val)	KIAA0930 (E330V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1691077	NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr)	KIAA0930 (A325T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1691076	NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu)	KIAA0930 (S324L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1691075	NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu)	KIAA0930 (S322L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2409007	NM_001009880.2(KIAA0930):c.943C>T (p.Arg315Trp)	KIAA0930 (R320W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253757	NM_001009880.2(KIAA0930):c.938G>A (p.Arg313Gln)	KIAA0930 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400392	NM_001009880.2(KIAA0930):c.929A>G (p.Lys310Arg)	KIAA0930 (K310R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255522	NM_001009880.2(KIAA0930):c.899C>G (p.Pro300Arg)	KIAA0930 (P300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114142	NM_001009880.2(KIAA0930):c.838C>T (p.Pro280Ser)	KIAA0930 (P285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288115	NM_001009880.2(KIAA0930):c.836C>T (p.Ser279Leu)	KIAA0930 (S279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288111	NM_001009880.2(KIAA0930):c.718A>G (p.Met240Val)	KIAA0930 (M240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114141	NM_001009880.2(KIAA0930):c.690G>A (p.Met230Ile)	KIAA0930 (M230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535419	NM_001009880.2(KIAA0930):c.670G>A (p.Ala224Thr)	KIAA0930 (A229T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114139	NM_001009880.2(KIAA0930):c.575G>A (p.Ser192Asn)	KIAA0930 (S192N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288112	NM_001009880.2(KIAA0930):c.413A>C (p.Gln138Pro)	KIAA0930 (Q138P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288113	NM_001009880.2(KIAA0930):c.353C>G (p.Thr118Ser)	KIAA0930 (T118S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455149	NM_001009880.2(KIAA0930):c.295G>A (p.Asp99Asn)	KIAA0930 (D99N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114136	NM_001009880.2(KIAA0930):c.292A>G (p.Ile98Val)	KIAA0930 (I103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114135	NM_001009880.2(KIAA0930):c.254G>A (p.Arg85Gln)	KIAA0930 (R85Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617177	NM_001009880.2(KIAA0930):c.199G>A (p.Gly67Ser)	KIAA0930 (G72S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3234137	NM_001009880.2(KIAA0930):c.198C>T (p.Ser66=)	KIAA0930	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114134	NM_001009880.2(KIAA0930):c.169C>T (p.Arg57Trp)	KIAA0930 (R62W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508284	NM_001009880.2(KIAA0930):c.82C>T (p.Arg28Cys)	KIAA0930 (R33C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114140	NM_001009880.2(KIAA0930):c.65-175T>C	KIAA0930 (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114138	NM_001009880.2(KIAA0930):c.65-184C>T	KIAA0930 (S18F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114137	NM_001009880.2(KIAA0930):c.65-196C>T	KIAA0930 (S14F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653282	NM_001009880.2(KIAA0930):c.65-227C>T	KIAA0930 (Q4*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 57264	GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	ACR, ADM2 +371 more	Copy number loss	See cases	GPathogenic
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 2685682	GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	CELSR1, CERK +55 more	Copy number loss	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	A4GALT, ACR +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979612	GRCh37/hg19 22q13.31(chr22:44649786-45866882)x3	PRR5, RIBC2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 932299	Single allele	ATXN10, BRD1 +45 more	Copy number loss	22q13.3 interstitial deletion	GPathogenic
Select item 816567	GRCh37/hg19 22q13.31(chr22:45553562-45857232)x1	FAM118A, UPK3A +4 more	Copy number loss	not provided	GUncertain significance
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625738	GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	ACR, ADM2 +60 more	Copy number loss	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	A4GALT, ACR +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565051	GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	ACR, ADM2 +61 more	Copy number loss	not provided	GPathogenic
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 443057	GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	ACR, ADM2 +57 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic

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