ZFTA[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152302	GRCh38/hg38 11q12.3-13.1(chr11:62893226-64335043)x1	ATL3, BAD +107 more	Copy number loss	See cases	GLikely pathogenic
Select item 3193338	NM_001144936.2(ZFTA):c.1331G>A (p.Gly444Asp)	ZFTA (G444D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193336	NM_001144936.2(ZFTA):c.1021C>A (p.Pro341Thr)	ZFTA (P341T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641902	NM_001144936.2(ZFTA):c.999G>A (p.Leu333=)	ZFTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193344	NM_001144936.2(ZFTA):c.995C>G (p.Ala332Gly)	ZFTA (A332G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193343	NM_001144936.2(ZFTA):c.958A>C (p.Ser320Arg)	ZFTA (S320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193342	NM_001144936.2(ZFTA):c.761G>A (p.Arg254Gln)	ZFTA (R254Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193341	NM_001144936.2(ZFTA):c.740G>A (p.Gly247Asp)	ZFTA (G247D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641903	NM_001144936.2(ZFTA):c.93G>A (p.Pro31=)	ZFTA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3193340	NM_001144936.2(ZFTA):c.50G>A (p.Gly17Asp)	ZFTA (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193339	NM_001144936.2(ZFTA):c.17A>C (p.Asp6Ala)	ZFTA (D6A)	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 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 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 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	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 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 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

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Items: 20