ClinVar for Gene (Select 5936) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2641999	NM_002896.4(RBM4):c.876C>T (p.Ala292=)	RBM4, RBM14-RBM4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2385764	NM_031492.4(RBM4B):c.*10-356A>G	RBM4, RBM4B (I164T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260483	NM_031492.4(RBM4B):c.*10-332T>C	RBM4, RBM4B (Y156C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211929	NM_002896.4(RBM4):c.712G>A (p.Ala238Thr)	RBM14-RBM4, RBM4 (A213T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1879220	GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3	ACTN3, BBS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1801730	NM_002896.4(RBM4):c.899C>T (p.Ser300Phe)	RBM14-RBM4, RBM4 (S275F +1 more)	Single nucleotide variant (missense variant +1 more)	Myoepithelial tumor	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 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	ACER3, ACP2 +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)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic
Select item 253811	GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3	GRK2, LRFN4 +57 more	Copy number gain	See cases	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006205, LOC130006206 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	RIN1, RPS6KB2 +212 more	Copy number gain	See cases	GPathogenic