ClinVar for Gene (Select 25858) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 26

	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 3137851	NM_001039496.2(CATSPERZ):c.76G>A (p.Asp26Asn)	CATSPERZ, KCNK4-CATSPERZ (D26N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137850	NM_001039496.2(CATSPERZ):c.497G>A (p.Arg166Gln)	CATSPERZ, KCNK4-CATSPERZ (R166Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137849	NM_001039496.2(CATSPERZ):c.496C>T (p.Arg166Trp)	CATSPERZ, KCNK4-CATSPERZ (R166W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137848	NM_001039496.2(CATSPERZ):c.478A>G (p.Ile160Val)	CATSPERZ, KCNK4-CATSPERZ (I160V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137847	NM_001039496.2(CATSPERZ):c.386C>T (p.Ala129Val)	CATSPERZ, KCNK4-CATSPERZ (A129V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137846	NM_001039496.2(CATSPERZ):c.367A>G (p.Met123Val)	CATSPERZ, KCNK4-CATSPERZ (M123V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137845	NM_001039496.2(CATSPERZ):c.32A>C (p.Lys11Thr)	CATSPERZ, KCNK4-CATSPERZ (K11T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137844	NM_001039496.2(CATSPERZ):c.224A>T (p.Glu75Val)	CATSPERZ, KCNK4-CATSPERZ (E75V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137843	NM_001039496.2(CATSPERZ):c.188G>C (p.Arg63Pro)	CATSPERZ, KCNK4-CATSPERZ (R63P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3137842	NM_001039496.2(CATSPERZ):c.188G>A (p.Arg63His)	CATSPERZ, KCNK4-CATSPERZ (R63H)	Single nucleotide variant (non-coding transcript variant +1 more)	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	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2596046	NM_001039496.2(CATSPERZ):c.211G>A (p.Gly71Ser)	KCNK4-CATSPERZ, CATSPERZ (G71S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2519400	NM_001039496.2(CATSPERZ):c.581G>T (p.Ser194Ile)	CATSPERZ, KCNK4-CATSPERZ (S194I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2518466	NM_001039496.2(CATSPERZ):c.517G>T (p.Gly173Cys)	CATSPERZ, KCNK4-CATSPERZ (G173C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2509081	NM_001039496.2(CATSPERZ):c.341A>C (p.Gln114Pro)	CATSPERZ, KCNK4-CATSPERZ (Q114P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2469392	NM_001039496.2(CATSPERZ):c.172A>C (p.Asn58His)	CATSPERZ, KCNK4-CATSPERZ (N58H)	Single nucleotide variant (non-coding transcript variant +1 more)	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 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
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
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26