9549[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 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	GUncertain significance
Select item 1804031	NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)	PSMC3 (R304W)	Single nucleotide variant (missense variant)	Microcephaly +11 more	GPathogenic
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 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 2576688	NM_002804.5(PSMC3):c.557G>A (p.Ser186Asn)	PSMC3 (S186N)	Single nucleotide variant (missense variant)	not provided	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 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	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Fetal akinesia deformation sequence 1 +1 more	GPathogenic
Select item 1447979	NC_000011.9:g.(?_47431646)_(47470726_?)dup	PSMC3, RAPSN +1 more	Duplication	Fetal akinesia deformation sequence 1 +1 more	GUncertain significance
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	F2, FAM180B +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	APOA1, APOA4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	ACP2, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic

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Items: 31