ClinVar for Gene (Select 84304) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244550	NC_000011.9:g.(?_63731700)_(64572142_?)del	BAD, CATSPERZ +28 more	Deletion	Multiple endocrine neoplasia, type 1	GPathogenic
Select item 3202814	NM_032344.4(NUDT22):c.715C>A (p.Leu239Met)	NUDT22 (L206M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3202813	NM_032344.4(NUDT22):c.661G>A (p.Ala221Thr)	NUDT22 (A188T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202812	NM_032344.4(NUDT22):c.454G>A (p.Val152Ile)	NUDT22 (V152I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202810	NM_032344.4(NUDT22):c.40G>A (p.Gly14Arg)	NUDT22 (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202809	NM_032344.4(NUDT22):c.175C>T (p.Pro59Ser)	NUDT22 (P59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202808	NM_032344.4(NUDT22):c.107G>A (p.Gly36Asp)	NUDT22 (G36D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685408	GRCh37/hg19 11q13.1(chr11:63643711-64533636)x1	BAD, CATSPERZ +29 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2614482	NM_032344.4(NUDT22):c.239T>C (p.Leu80Pro)	NUDT22 (L80P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513779	NM_032344.4(NUDT22):c.331G>A (p.Gly111Ser)	NUDT22 (G111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510754	NM_032344.4(NUDT22):c.325G>A (p.Asp109Asn)	NUDT22 (D109N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2460808	NM_032344.4(NUDT22):c.457C>T (p.Pro153Ser)	NUDT22 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456947	NM_032344.4(NUDT22):c.705G>C (p.Arg235Ser)	NUDT22 (R202S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 2371116	NM_032344.4(NUDT22):c.203T>A (p.Leu68Gln)	NUDT22 (L68Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284382	NM_032344.4(NUDT22):c.621G>C (p.Leu207Phe)	NUDT22 (L174F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239297	NM_032344.4(NUDT22):c.289A>G (p.Ser97Gly)	NUDT22 (S97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225369	NM_032344.4(NUDT22):c.529C>G (p.Leu177Val)	NUDT22 (L177V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223519	NM_032344.4(NUDT22):c.653G>C (p.Arg218Pro)	NUDT22 (R218P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216917	NM_032344.4(NUDT22):c.653G>A (p.Arg218Gln)	NUDT22 (R218Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216792	NM_032344.4(NUDT22):c.263G>A (p.Arg88Gln)	NUDT22 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ARL2, ATG2A +74 more	Duplication	Ependymoma	GLikely pathogenic
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
Select item 221479	GRCh37/hg19 11q13.1(chr11:63995089-64012419)x3	DNAJC4, FKBP2 +3 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 30