ClinVar for Gene (Select 79703) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3313418	NM_005133.3(RCE1):c.10C>G (p.Leu4Val)	RCE1, TOP6BL (L4V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152708	NM_005133.3(RCE1):c.19G>A (p.Asp7Asn)	RCE1, TOP6BL (D7N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3152706	NM_005133.3(RCE1):c.13G>A (p.Gly5Ser)	RCE1, TOP6BL (G5S)	Single nucleotide variant (3 prime UTR variant +2 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 3060507	NM_001302084.2(TOP6BL):c.1476G>C (p.Val492=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GBenign
Select item 3058840	NM_001302084.2(TOP6BL):c.-127CGG[9]	FRA11A, LOC130006135 +1 more	Microsatellite (5 prime UTR variant)	TOP6BL-related disorder	GBenign
Select item 3055893	NM_001302084.2(TOP6BL):c.-30+5T>C	TOP6BL	Single nucleotide variant (intron variant)	TOP6BL-related disorder	GLikely benign
Select item 3055765	NM_001302084.2(TOP6BL):c.-29-2696del	TOP6BL	Deletion (intron variant)	TOP6BL-related disorder	GLikely benign
Select item 3050472	NM_001302084.2(TOP6BL):c.-30+3513A>G	TOP6BL	Single nucleotide variant (synonymous variant +1 more)	TOP6BL-related disorder	GLikely benign
Select item 3050115	NM_001302084.2(TOP6BL):c.128T>C (p.Ile43Thr)	TOP6BL (I160T +2 more)	Single nucleotide variant (missense variant)	TOP6BL-related disorder	GBenign
Select item 3049948	NM_001302084.2(TOP6BL):c.1242C>T (p.Leu414=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GBenign
Select item 3044828	NM_001302084.2(TOP6BL):c.1422C>T (p.His474=)	LOC130006139, TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
Select item 3042527	NM_001302084.2(TOP6BL):c.210G>A (p.Val70=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
Select item 3038989	NM_001302084.2(TOP6BL):c.-29-2697_-29-2696dup	TOP6BL	Duplication (intron variant)	TOP6BL-related disorder	GLikely benign
Select item 3035368	NM_001302084.2(TOP6BL):c.1071T>A (p.Leu357=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
Select item 3035172	NM_001302084.2(TOP6BL):c.-127CGG[4]	FRA11A, LOC130006135 +1 more	Microsatellite (5 prime UTR variant)	TOP6BL-related disorder	GLikely benign
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 2642008	NM_001302084.2(TOP6BL):c.987A>G (p.Ser329=)	TOP6BL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571602	NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)	TOP6BL (K425fs +1 more)	Deletion (frameshift variant)	Hydatidiform mole, recurrent, 4	GLikely pathogenic
Select item 2540607	NM_005133.3(RCE1):c.16G>A (p.Gly6Arg)	RCE1, TOP6BL (G6R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 2406904	NM_001302084.2(TOP6BL):c.1055T>G (p.Met352Arg)	TOP6BL (M352R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398605	NM_001302084.2(TOP6BL):c.1120C>T (p.Arg374Cys)	TOP6BL (R374C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378671	NM_005133.3(RCE1):c.44C>T (p.Ser15Leu)	RCE1, TOP6BL (S15L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2378208	NM_001302084.2(TOP6BL):c.599C>T (p.Pro200Leu)	TOP6BL (P365L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341021	NM_001302084.2(TOP6BL):c.391C>A (p.His131Asn)	TOP6BL (H296N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253280	NM_001302084.2(TOP6BL):c.-30+3538A>G	TOP6BL (I86V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237367	NM_001302084.2(TOP6BL):c.1216G>A (p.Ala406Thr)	TOP6BL (A406T +2 more)	Single nucleotide variant (missense variant)	not specified	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 1340579	GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1	ACTN3, B4GAT1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1050085	NM_001302084.2(TOP6BL):c.-41G>C	TOP6BL (A56P +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 791631	NM_001302084.2(TOP6BL):c.1348G>A (p.Glu450Lys)	TOP6BL (E450K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 627626	NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro)	TOP6BL (S501P +2 more)	Single nucleotide variant (missense variant)	Hydatidiform mole, recurrent, 4	GUncertain significance
Select item 627625	NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter)	TOP6BL (E262* +1 more)	Duplication (nonsense +1 more)	Hydatidiform mole, recurrent, 4	GPathogenic
Select item 625593	GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402)	ACTN3, ACY3 +94 more	Copy number gain	not provided	GPathogenic
Select item 443398	GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3	ACTN3, ANKRD13D +104 more	Copy number gain	See cases	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 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	ACTN3, ACY3 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic

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: 42