53[geneid] - ClinVar

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Items: 48

	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	ACCS, ACCSL +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 776606	NM_001610.4(ACP2):c.1248C>T (p.Val416=)	ACP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2287145	NM_001610.4(ACP2):c.1229C>T (p.Pro410Leu)	ACP2 (P347L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138709	NM_001610.4(ACP2):c.1221G>C (p.Gln407His)	ACP2 (Q379H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317760	NM_001610.4(ACP2):c.1219C>A (p.Gln407Lys)	ACP2 (Q220K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788071	NM_001610.4(ACP2):c.1177T>C (p.Phe393Leu)	ACP2 (F206L +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 780968	NM_001610.4(ACP2):c.1138+4A>G	ACP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2204309	NM_001610.4(ACP2):c.1136C>T (p.Thr379Ile)	ACP2 (T192I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384844	NM_001610.4(ACP2):c.1115T>G (p.Leu372Arg)	ACP2 (L309R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280857	NM_001610.4(ACP2):c.1067G>A (p.Arg356His)	ACP2 (R356H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138681	NM_001610.4(ACP2):c.1007C>T (p.Ala336Val)	ACP2 (A304V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296481	NM_001610.4(ACP2):c.994G>A (p.Glu332Lys)	ACP2 (E145K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776607	NM_001610.4(ACP2):c.856-4G>A	ACP2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3138763	NM_001610.4(ACP2):c.815C>T (p.Ala272Val)	ACP2 (A209V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 558905	NM_001610.4(ACP2):c.773-20C>T	ACP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2348447	NM_001610.4(ACP2):c.745C>A (p.Gln249Lys)	ACP2 (Q186K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338372	NM_001610.4(ACP2):c.743A>G (p.Gln248Arg)	ACP2 (Q216R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343371	NM_001610.4(ACP2):c.722G>A (p.Arg241His)	ACP2 (R178H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520697	NM_001610.4(ACP2):c.656G>A (p.Arg219His)	ACP2 (R156H +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2612600	NM_001610.4(ACP2):c.648C>A (p.His216Gln)	ACP2 (H216Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138741	NM_001610.4(ACP2):c.532G>A (p.Glu178Lys)	ACP2 (E146K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247420	NM_001610.4(ACP2):c.522G>C (p.Glu174Asp)	ACP2 (E142D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569905	NM_001610.4(ACP2):c.517C>T (p.Pro173Ser)	ACP2 (P141S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 558906	NM_001610.4(ACP2):c.495G>A (p.Leu165=)	ACP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3138734	NM_001610.4(ACP2):c.475T>C (p.Cys159Arg)	ACP2 (C127R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371577	NM_001610.4(ACP2):c.464C>T (p.Pro155Leu)	ACP2 (P127L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 558907	NM_001610.4(ACP2):c.451-29G>A	ACP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2295228	NM_001610.4(ACP2):c.298G>T (p.Val100Phe)	ACP2 (V72F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475258	NM_001610.4(ACP2):c.294A>C (p.Gln98His)	ACP2 (Q66H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788072	NM_001610.4(ACP2):c.282T>G (p.Ser94=)	ACP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 558908	NM_001610.4(ACP2):c.266G>A (p.Gly89Asp)	ACP2 (G89D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2591913	NM_001610.4(ACP2):c.110C>G (p.Thr37Ser)	ACP2, LOC130005671 +1 more (T37S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 558909	NM_001610.4(ACP2):c.86G>A (p.Arg29Gln)	LOC130005671, NR1H3 +1 more (R29Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3138725	NM_001610.4(ACP2):c.32C>A (p.Ala11Glu)	ACP2, LOC130005671 +1 more (A11E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 786418	NM_001610.4(ACP2):c.28C>T (p.Arg10Trp)	ACP2, LOC130005671 +1 more (R10W)	Single nucleotide variant (5 prime UTR variant +1 more)	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 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	ACER3, ACP2 +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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 48