ClinVar for Gene (Select 58487) - ClinVar

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Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3077371	NM_001039618.4(CREBZF):c.990T>A (p.His330Gln)	CREBZF, LOC130006552 (H330Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077370	NM_001039618.4(CREBZF):c.989A>C (p.His330Pro)	CREBZF, LOC130006552 (H330P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077369	NM_001039618.4(CREBZF):c.937C>G (p.Gln313Glu)	CREBZF, LOC130006552 (Q313E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077368	NM_001039618.4(CREBZF):c.76G>A (p.Ala26Thr)	CREBZF (A26T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077367	NM_001039618.4(CREBZF):c.622A>G (p.Lys208Glu)	CREBZF, LOC130006553 (K208E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077366	NM_001039618.4(CREBZF):c.606C>A (p.Asn202Lys)	CREBZF, LOC130006553 (N202K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077364	NM_001039618.4(CREBZF):c.482A>C (p.Asp161Ala)	CREBZF (D161A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077363	NM_001039618.4(CREBZF):c.293A>T (p.Asp98Val)	CREBZF (D98V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3077362	NM_001039618.4(CREBZF):c.1036C>T (p.Arg346Trp)	CREBZF, LOC130006552 (R346W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540505	NM_001039618.4(CREBZF):c.196G>T (p.Gly66Trp)	CREBZF, LOC130006554 (G66W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522939	NM_001039618.4(CREBZF):c.1049C>G (p.Ser350Cys)	CREBZF, LOC130006552 (S350C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2517047	NM_001039618.4(CREBZF):c.121G>C (p.Gly41Arg)	CREBZF (G41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495355	NM_001039618.4(CREBZF):c.122G>T (p.Gly41Val)	CREBZF (G41V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460275	NM_001039618.4(CREBZF):c.848G>A (p.Arg283Gln)	CREBZF (R283Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459178	NM_001039618.4(CREBZF):c.212G>T (p.Gly71Val)	CREBZF, LOC130006554 (G71V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 2362725	NM_001039618.4(CREBZF):c.557G>C (p.Arg186Pro)	CREBZF, LOC130006553 (R186P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300315	NM_001039618.4(CREBZF):c.745G>C (p.Glu249Gln)	CREBZF, LOC130006553 (E249Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276420	NM_001039618.4(CREBZF):c.236C>A (p.Ser79Tyr)	CREBZF (S79Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207608	NM_001039618.4(CREBZF):c.996C>G (p.Asp332Glu)	CREBZF, LOC130006552 (D332E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527657	GRCh37/hg19 11q14.1-14.2(chr11:85324893-85757693)	CCDC83, CCDC89 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527656	GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)	C11orf54, CCDC81 +39 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815449	GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3	CCDC81, CCDC83 +29 more	Copy number gain	not provided	GPathogenic
Select item 815445	GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1	TMEM126A, PRSS23 +13 more	Copy number loss	not provided	GPathogenic
Select item 746876	NM_001039618.4(CREBZF):c.363C>T (p.Asp121=)	CREBZF	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 590793	GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)	GRM5, HIKESHI +36 more	Copy number loss	Intellectual disability	GPathogenic
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 560087	Single allele	EED, TMEM126A +13 more	Deletion	Exudative vitreoretinopathy 1	GPathogenic
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 394269	GRCh37/hg19 11q14.1(chr11:85365100-85459435)x3	CCDC89, CREBZF +2 more	Copy number gain	See cases	GLikely benign
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	AAMDC, ACER3 +474 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 45