18624[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2551116	NM_016594.3(FKBP11):c.515T>C (p.Ile172Thr)	FKBP11 (I70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095293	NM_016594.3(FKBP11):c.466A>G (p.Ile156Val)	FKBP11 (I156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095292	NM_016594.3(FKBP11):c.458T>G (p.Val153Gly)	FKBP11 (V51G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516076	NM_016594.3(FKBP11):c.434G>A (p.Arg145Gln)	FKBP11 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375801	NM_016594.3(FKBP11):c.389C>T (p.Ala130Val)	FKBP11 (A130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350645	NM_016594.3(FKBP11):c.364C>T (p.Arg122Trp)	FKBP11 (R20W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278931	NM_016594.3(FKBP11):c.305A>C (p.Asp102Ala)	FKBP11 (D102A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3095291	NM_016594.3(FKBP11):c.262G>A (p.Gly88Ser)	FKBP11 (G88S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616603	NM_016594.3(FKBP11):c.204G>C (p.Leu68Phe)	FKBP11 (L68F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206954	NM_016594.3(FKBP11):c.185T>G (p.Ile62Arg)	FKBP11 (I62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522114	NM_016594.3(FKBP11):c.94G>C (p.Glu32Gln)	FKBP11 (E32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095294	NM_016594.3(FKBP11):c.58G>C (p.Ala20Pro)	FKBP11 (A20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374881	NM_016594.3(FKBP11):c.57T>A (p.Ser19Arg)	FKBP11 (S19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244386	NC_000012.11:g.(?_49308167)_(49375423_?)del	WNT10B, ARF3 +3 more	Deletion	not provided	GPathogenic
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	RND1, WNT1 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 3244280	NC_000012.11:g.(?_49298120)_(49488295_?)dup	ARF3, CCDC65 +8 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 27