ClinVar for Gene (Select 23625) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3092698	NM_001098785.2(FAM89B):c.533A>C (p.Asp178Ala)	FAM89B (D178A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092697	NM_001098785.2(FAM89B):c.408C>T (p.Ser136=)	FAM89B (L140F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3092696	NM_001098785.2(FAM89B):c.233C>T (p.Ala78Val)	FAM89B (A78V)	Single nucleotide variant (missense variant)	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 2604941	NM_001098785.2(FAM89B):c.444G>A (p.Ala148=)	FAM89B (G152R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543740	NM_001098785.2(FAM89B):c.391T>C (p.Cys131Arg)	FAM89B (C118R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466584	NM_001098785.2(FAM89B):c.205G>T (p.Ala69Ser)	FAM89B (A69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426697	NC_000011.9:g.(?_65325080)_(65639825_?)del	AP5B1, CFL1 +15 more	Deletion	Aicardi-Goutieres syndrome 3	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 2398627	NM_001098785.2(FAM89B):c.212C>T (p.Ala71Val)	FAM89B (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384936	NM_001098785.2(FAM89B):c.7G>A (p.Gly3Arg)	FAM89B, LOC130006037 (G3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362332	NM_001098785.2(FAM89B):c.472G>A (p.Asp158Asn)	FAM89B (D145N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2296851	NM_001098785.2(FAM89B):c.103G>T (p.Gly35Trp)	FAM89B, LOC130006037 (G35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294849	NM_001098785.2(FAM89B):c.247C>T (p.Pro83Ser)	FAM89B (P83S)	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 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	AP5B1, ARL2 +81 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 634998	dup(11)(q13.1q13.1)	ATG2A, BAD +74 more	Duplication	Ependymoma	GLikely pathogenic
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 152827	GRCh38/hg38 11q13.1(chr11:65327786-65626431)x3	LOC130006016, LOC130006017 +80 more	Copy number gain	See cases	GUncertain significance
Select item 152640	GRCh38/hg38 11q13.1(chr11:65520831-65695349)x3	EHBP1L1, FAM89B +45 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 26