ClinVar for Gene (Select 8061) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096230	NM_005438.5(FOSL1):c.683C>A (p.Pro228His)	FOSL1 (P162H +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096229	NM_005438.5(FOSL1):c.425A>T (p.Asp142Val)	FOSL1 (D76V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3096228	NM_005438.5(FOSL1):c.181C>A (p.Pro61Thr)	FOSL1 (P61T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096227	NM_005438.5(FOSL1):c.169C>T (p.His57Tyr)	FOSL1 (H57Y)	Single nucleotide variant (missense variant +1 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	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2595032	NM_005438.5(FOSL1):c.13T>G (p.Phe5Val)	FOSL1, LOC130006086 (F5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589640	NM_005438.5(FOSL1):c.116C>G (p.Pro39Arg)	FOSL1 (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557626	NM_005438.5(FOSL1):c.194C>T (p.Pro65Leu)	FOSL1 (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557625	NM_005438.5(FOSL1):c.185G>T (p.Ser62Ile)	FOSL1 (S62I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523954	NM_005438.5(FOSL1):c.326G>T (p.Arg109Leu)	FOSL1 (R109L +1 more)	Single nucleotide variant (synonymous variant +3 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 2398449	NM_005438.5(FOSL1):c.796C>G (p.Pro266Ala)	FOSL1 (P200A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2298561	NM_005438.5(FOSL1):c.101A>G (p.Lys34Arg)	FOSL1 (K34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286638	NM_005438.5(FOSL1):c.227C>A (p.Pro76Gln)	FOSL1 (P76Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253477	NM_005438.5(FOSL1):c.278G>T (p.Arg93Leu)	FOSL1 (R93L)	Single nucleotide variant (missense variant +1 more)	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 787377	NM_005438.5(FOSL1):c.525G>A (p.Pro175=)	FOSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 746545	NM_005438.5(FOSL1):c.795T>C (p.Ser265=)	FOSL1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 710011	NM_005438.5(FOSL1):c.573C>A (p.Ser191Arg)	FOSL1 (S125R +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	LOC130006222, LOC130006223 +282 more	Copy number loss	See cases	GPathogenic
Select item 58163	GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3	CCDC85B, CTSW +8 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 30