THAP12[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 2234561	NM_004705.4(THAP12):c.2190A>C (p.Lys730Asn)	THAP12 (K730N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2642165	NM_004705.4(THAP12):c.2106G>A (p.Lys702=)	THAP12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2286359	NM_004705.4(THAP12):c.1729A>G (p.Thr577Ala)	THAP12 (T577A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383472	NM_004705.4(THAP12):c.937A>G (p.Met313Val)	THAP12 (M313V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254107	NM_004705.4(THAP12):c.796G>A (p.Asp266Asn)	THAP12 (D266N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
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