7024[Gene ID] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	ACVRL1, ANKRD33 +206 more	Copy number loss	See cases	GPathogenic
Select item 152062	GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1	ACVR1B, ACVRL1 +136 more	Copy number loss	See cases	GPathogenic
Select item 1257935	NM_005653.5(TFCP2):c.*788T>C	TFCP2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3176482	NM_005653.5(TFCP2):c.1486A>G (p.Ser496Gly)	TFCP2 (S496G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551462	NM_005653.5(TFCP2):c.1355C>G (p.Pro452Arg)	TFCP2 (P401R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176481	NM_005653.5(TFCP2):c.1292A>G (p.Tyr431Cys)	TFCP2 (Y431C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599086	NM_005653.5(TFCP2):c.1288A>C (p.Ile430Leu)	TFCP2 (I379L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474093	NM_005653.5(TFCP2):c.1123A>T (p.Ile375Phe)	TFCP2 (I375F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307286	NM_005653.5(TFCP2):c.1034T>C (p.Phe345Ser)	TFCP2 (F294S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557982	NM_005653.5(TFCP2):c.955C>T (p.Pro319Ser)	TFCP2 (P268S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332232	NM_005653.5(TFCP2):c.779A>G (p.His260Arg)	TFCP2 (H260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602625	NM_005653.5(TFCP2):c.664G>A (p.Gly222Arg)	TFCP2 (G222R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046167	NM_005653.5(TFCP2):c.564+8G>A	TFCP2	Single nucleotide variant (intron variant)	TFCP2-related condition	GLikely benign
Select item 2305849	NM_005653.5(TFCP2):c.464C>T (p.Pro155Leu)	TFCP2 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725865	NM_005653.5(TFCP2):c.352-10A>T	TFCP2	Single nucleotide variant (intron variant)	TFCP2-related condition +1 more	GBenign
Select item 2529323	NM_005653.5(TFCP2):c.163A>G (p.Ser55Gly)	TFCP2 (S55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503053	t(12;16)(q13.13;p11.2)	FUS, TFCP2	Translocation	Adrenal cortex carcinoma	GUncertain significance
Select item 563940	GRCh37/hg19 12q13.12-13.13(chr12:51361462-51751521)x3	GALNT6, SLC11A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +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	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 23