TFAP2A-AS1[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 1220675	NM_001372066.1(TFAP2A):c.52-2168del	TFAP2A, TFAP2A-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1261480	NM_001372066.1(TFAP2A):c.52-2220C>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253179	NM_001372066.1(TFAP2A):c.52-2261C>T	LOC129995739, TFAP2A +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246182	NM_001372066.1(TFAP2A):c.51+173A>G	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1244791	NM_001372066.1(TFAP2A):c.51+168C>G	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1277380	NM_001372066.1(TFAP2A):c.51+124C>A	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1638742	NM_001372066.1(TFAP2A):c.51+20G>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 3029339	NM_001372066.1(TFAP2A):c.51+8C>A	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	TFAP2A-related disorder	GLikely benign
Select item 745033	NM_001372066.1(TFAP2A):c.51+8C>T	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2890442	NM_001372066.1(TFAP2A):c.30T>C (p.Asn10=)	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2413670	NM_001372066.1(TFAP2A):c.23C>T (p.Thr8Met)	TFAP2A, TFAP2A-AS1 (T8M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 743674	NM_001372066.1(TFAP2A):c.21G>A (p.Leu7=)	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1310390	NM_001372066.1(TFAP2A):c.14_15delinsTC (p.Trp5Phe)	TFAP2A, TFAP2A-AS1 (W5F)	Indel (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1065052	NM_001372066.1(TFAP2A):c.15G>A (p.Trp5Ter)	TFAP2A, TFAP2A-AS1 (W5*)	Single nucleotide variant (non-coding transcript variant +2 more)	Melnick-Fraser syndrome	GLikely pathogenic
Select item 1210805	NM_001372066.1(TFAP2A):c.-14G>C	TFAP2A, TFAP2A-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1256916	NM_001372066.1(TFAP2A):c.-83G>C	TFAP2A, TFAP2A-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 28