KCNMB2-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ALG3, AP2M1 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	ABCC5, ABCC5-AS1 +866 more	Copy number gain	See cases	GPathogenic
Select item 224832	NC_000003.12:g.177772523_185716872dup	ALG3, AP2M1 +280 more	Duplication	Currarino triad	GLikely pathogenic
Select item 155645	GRCh38/hg38 3q26.32-26.33(chr3:178391683-179786092)x3	LOC129937956, LOC129937957 +51 more	Copy number gain	See cases	GLikely benign
Select item 2288222	NM_181361.3(KCNMB2):c.65A>G (p.Tyr22Cys)	KCNMB2, KCNMB2-AS1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370525	NM_181361.3(KCNMB2):c.242A>T (p.Glu81Val)	KCNMB2, KCNMB2-AS1 (E81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496177	NM_181361.3(KCNMB2):c.352G>A (p.Val118Ile)	KCNMB2, KCNMB2-AS1 (V118I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113435	NM_181361.3(KCNMB2):c.431A>G (p.Tyr144Cys)	KCNMB2, KCNMB2-AS1 (Y144C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468877	NM_181361.3(KCNMB2):c.445G>A (p.Gly149Arg)	KCNMB2, KCNMB2-AS1 (G149R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1273272	NM_181361.3(KCNMB2):c.564A>C (p.Thr188=)	KCNMB2, KCNMB2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3113436	NM_181361.3(KCNMB2):c.704G>A (p.Arg235Lys)	KCNMB2, KCNMB2-AS1 (R235K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 21