79703[geneid] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 3035172	NM_001302084.2(TOP6BL):c.-127CGG[4]	FRA11A, LOC130006135 +1 more	Microsatellite (5 prime UTR variant)	TOP6BL-related disorder	GLikely benign
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 3055893	NM_001302084.2(TOP6BL):c.-30+5T>C	TOP6BL	Single nucleotide variant (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 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 3038989	NM_001302084.2(TOP6BL):c.-29-2697_-29-2696dup	TOP6BL	Duplication (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 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 3042527	NM_001302084.2(TOP6BL):c.210G>A (p.Val70=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
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 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 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 2642008	NM_001302084.2(TOP6BL):c.987A>G (p.Ser329=)	TOP6BL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3035368	NM_001302084.2(TOP6BL):c.1071T>A (p.Leu357=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GLikely benign
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 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 3049948	NM_001302084.2(TOP6BL):c.1242C>T (p.Leu414=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GBenign
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 791631	NM_001302084.2(TOP6BL):c.1348G>A (p.Glu450Lys)	TOP6BL (E450K +2 more)	Single nucleotide variant (missense variant)	not provided	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 3060507	NM_001302084.2(TOP6BL):c.1476G>C (p.Val492=)	TOP6BL	Single nucleotide variant (synonymous variant)	TOP6BL-related disorder	GBenign
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 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 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 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 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 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
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 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	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 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	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

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Items: 42