5702[Gene ID] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 2641766	NM_002804.5(PSMC3):c.1251C>T (p.His417=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2575654	NM_002804.5(PSMC3):c.1204G>C (p.Glu402Gln)	PSMC3 (E402Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599398	NM_002804.5(PSMC3):c.1127+337A>G	PSMC3	Single nucleotide variant (intron variant)	Deafness, cataract, impaired intellectual development, and polyneuropathy +3 more	GPathogenic
Select item 3067252	NM_002804.5(PSMC3):c.1065G>A (p.Pro355=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504767	NM_002804.5(PSMC3):c.1040G>A (p.Arg347His)	PSMC3 (R347H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2641767	NM_002804.5(PSMC3):c.1014G>A (p.Leu338=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2205821	NM_002804.5(PSMC3):c.929T>C (p.Met310Thr)	PSMC3 (M310T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3363101	NM_002804.5(PSMC3):c.910C>G (p.Arg304Gly)	PSMC3 (R304G)	Single nucleotide variant (missense variant)	PSMC3-Related Neurodevelopmental Delay	GPathogenic
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Developmental dysplasia of the hip +11 more	GPathogenic
Select item 3342943	NM_002804.5(PSMC3):c.873C>G (p.Ile291Met)	PSMC3 (I291M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537846	NM_002804.5(PSMC3):c.854T>C (p.Ile285Thr)	PSMC3 (I285T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3001878	NM_002804.5(PSMC3):c.826A>G (p.Lys276Glu)	PSMC3 (K276E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371983	NM_002804.5(PSMC3):c.821T>C (p.Leu274Pro)	PSMC3 (L274P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504972	NM_002804.5(PSMC3):c.782T>C (p.Ile261Thr)	PSMC3 (I261T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504963	NM_002804.5(PSMC3):c.755C>T (p.Ala252Val)	PSMC3 (A252V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025494	NM_002804.5(PSMC3):c.723C>T (p.Ala241=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253547	NM_002804.5(PSMC3):c.712C>T (p.Arg238Trp)	PSMC3 (R238W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576688	NM_002804.5(PSMC3):c.557G>A (p.Ser186Asn)	PSMC3 (S186N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3257036	NM_002804.5(PSMC3):c.393G>A (p.Thr131=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220402	NM_002804.5(PSMC3):c.331A>G (p.Ile111Val)	PSMC3 (I111V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335069	NM_002804.5(PSMC3):c.276C>T (p.Asn92=)	PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3341016	NM_002804.5(PSMC3):c.113C>T (p.Thr38Met)	PSMC3 (T38M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364028	NM_002804.5(PSMC3):c.95A>G (p.Glu32Gly)	PSMC3 (E32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3310974	NM_002804.5(PSMC3):c.53C>T (p.Ala18Val)	PSMC3 (A18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582894	NM_002804.5(PSMC3):c.18T>C (p.Asn6=)	LOC130005677, PSMC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 1447979	NC_000011.9:g.(?_47431646)_(47470726_?)dup	PSMC3, RAPSN +1 more	Duplication	Congenital myasthenic syndrome 11 +1 more	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	MADD-AS1, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 40