ClinVar for Gene (Select 10242) - ClinVar

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Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287711	NM_181361.3(KCNMB2):c.467T>C (p.Met156Thr)	KCNMB2, KCNMB2-AS1 (M156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287710	NM_181361.3(KCNMB2):c.166G>C (p.Val56Leu)	KCNMB2, KCNMB2-AS1 (V56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
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 3062685	GRCh37/hg19 3q26.32(chr3:178540352-178991786)x1	KCNMB2, KCNMB3 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 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 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 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 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1328104	GRCh37/hg19 3q26.31-27.3(chr3:175119199-187592480)x3	ABCC5, ABCF3 +82 more	Copy number gain	not provided	GPathogenic
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 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	FXR1, HTR3D +113 more	Copy number gain	not provided	GPathogenic
Select item 686046	GRCh37/hg19 3q26.32(chr3:178235536-178650773)x1	KCNMB2	Copy number loss	not provided	GUncertain significance
Select item 685787	GRCh37/hg19 3q26.32(chr3:177582022-178452545)x3	KCNMB2	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394841	GRCh37/hg19 3q26.32(chr3:176551698-178552748)x1	KCNMB2, TBL1XR1	Copy number loss	See cases	GUncertain significance
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 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	ACTL6A, GNB4 +51 more	Copy number gain	See cases	GLikely benign
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 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 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 38