8572[HGNC] - ClinVar

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Items: 49

	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 2343951	NM_016223.5(PACSIN3):c.1270G>A (p.Ala424Thr)	PACSIN3 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207917	NM_016223.5(PACSIN3):c.1229G>A (p.Arg410His)	PACSIN3 (R410H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207916	NM_016223.5(PACSIN3):c.1211G>A (p.Gly404Asp)	PACSIN3 (G404D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303894	NM_016223.5(PACSIN3):c.1123G>A (p.Ala375Thr)	PACSIN3 (A375T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207915	NM_016223.5(PACSIN3):c.1068A>C (p.Glu356Asp)	PACSIN3 (E356D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303897	NM_016223.5(PACSIN3):c.1007C>T (p.Ala336Val)	PACSIN3 (A336V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207914	NM_016223.5(PACSIN3):c.1006G>A (p.Ala336Thr)	PACSIN3 (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207913	NM_016223.5(PACSIN3):c.1004C>A (p.Thr335Asn)	PACSIN3 (T335N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303896	NM_016223.5(PACSIN3):c.952C>T (p.Arg318Trp)	PACSIN3 (R318W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338242	NM_016223.5(PACSIN3):c.933C>G (p.Ser311Arg)	PACSIN3 (S311R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207927	NM_016223.5(PACSIN3):c.916A>T (p.Thr306Ser)	PACSIN3 (T306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207925	NM_016223.5(PACSIN3):c.796C>T (p.Arg266Cys)	PACSIN3 (R266C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207924	NM_016223.5(PACSIN3):c.706C>T (p.Arg236Cys)	PACSIN3 (R236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514396	NM_016223.5(PACSIN3):c.700G>A (p.Ala234Thr)	PACSIN3 (A234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641758	NM_016223.5(PACSIN3):c.699C>T (p.Ala233=)	PACSIN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3303893	NM_016223.5(PACSIN3):c.697G>A (p.Ala233Thr)	PACSIN3 (A233T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207923	NM_016223.5(PACSIN3):c.668A>T (p.Asp223Val)	PACSIN3 (D223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477535	NM_016223.5(PACSIN3):c.506C>T (p.Thr169Met)	PACSIN3 (T169M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303898	NM_016223.5(PACSIN3):c.416C>T (p.Ala139Val)	PACSIN3 (A139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207922	NM_016223.5(PACSIN3):c.409C>T (p.Arg137Cys)	PACSIN3 (R137C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207921	NM_016223.5(PACSIN3):c.373G>A (p.Gly125Ser)	PACSIN3 (G125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207920	NM_016223.5(PACSIN3):c.328G>A (p.Val110Met)	PACSIN3 (V110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3303895	NM_016223.5(PACSIN3):c.326G>A (p.Arg109Gln)	PACSIN3 (R109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204202	NM_016223.5(PACSIN3):c.325C>T (p.Arg109Trp)	PACSIN3 (R109W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207919	NM_016223.5(PACSIN3):c.310G>C (p.Gly104Arg)	PACSIN3 (G104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207918	NM_016223.5(PACSIN3):c.296G>A (p.Arg99Gln)	PACSIN3 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313401	NM_016223.5(PACSIN3):c.283C>T (p.His95Tyr)	PACSIN3 (H95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251379	NM_016223.5(PACSIN3):c.161C>T (p.Ala54Val)	PACSIN3 (A54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384334	NM_016223.5(PACSIN3):c.142C>T (p.Arg48Cys)	PACSIN3 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370894	NM_016223.5(PACSIN3):c.127T>C (p.Phe43Leu)	PACSIN3 (F43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380221	NM_016223.5(PACSIN3):c.109G>A (p.Gly37Arg)	PACSIN3 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207926	NM_016223.5(PACSIN3):c.83G>A (p.Arg28Gln)	PACSIN3 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258759	NM_016223.5(PACSIN3):c.58G>A (p.Gly20Ser)	PACSIN3 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618652	NM_016223.5(PACSIN3):c.34T>G (p.Leu12Val)	PACSIN3 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319615	NM_016223.5(PACSIN3):c.18C>A (p.Asp6Glu)	PACSIN3 (D6E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263031	NM_016223.5(PACSIN3):c.15G>C (p.Glu5Asp)	PACSIN3 (E5D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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: 49