ClinVar for Gene (Select 25858) - ClinVar

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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	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2596046	NM_001039496.2(CATSPERZ):c.211G>A (p.Gly71Ser)	CATSPERZ, KCNK4-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	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 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: 26