ClinVar for Gene (Select 84285) - ClinVar

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Links from Gene

Items: 20

	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 2559161	NM_001242481.2(EIF1AD):c.173G>A (p.Arg58His)	EIF1AD (R58H)	Single nucleotide variant (missense variant)	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 2299248	NM_001242481.2(EIF1AD):c.49G>A (p.Glu17Lys)	EIF1AD (E17K)	Single nucleotide variant (missense variant)	not specified	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 1527644	GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514)	ACTN3, AP5B1 +63 more	Copy number loss	not specified	GUncertain significance
Select item 1449359	NC_000011.9:g.(?_64522783)_(66283694_?)del	SF3B2, SIPA1 +81 more	Deletion	Glycogen storage disease, type V +1 more	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 644273	NC_000011.9:g.(?_65633902)_(66115026_?)dup	LOC130006108, LOC130006109 +72 more	Duplication	Cutis laxa, autosomal recessive, type 1B	GUncertain significance
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)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 305396	NM_001242481.2(EIF1AD):c.-329G>A	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GLikely benign
Select item 305395	NM_001242481.2(EIF1AD):c.-322_-321dup	BANF1, EIF1AD +1 more	Duplication (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305394	NM_001242481.2(EIF1AD):c.-316C>T	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305393	NM_001242481.2(EIF1AD):c.-308C>G	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 305392	NM_001242481.2(EIF1AD):c.-297T>C	BANF1, EIF1AD +1 more	Single nucleotide variant (5 prime UTR variant)	Nestor-Guillermo progeria syndrome	GUncertain significance
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 20