TCTA[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 155444	GRCh38/hg38 3p21.31(chr3:49171381-49474635)x3	AMT, C3orf62 +29 more	Copy number gain	See cases	GUncertain significance
Select item 3175366	NM_022171.3(TCTA):c.34G>A (p.Ala12Thr)	LOC112935946, TCTA (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175362	NM_022171.3(TCTA):c.125T>C (p.Leu42Pro)	LOC112935946, TCTA (L42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175364	NM_022171.3(TCTA):c.207C>A (p.His69Gln)	LOC112935946, TCTA (H69Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267450	NM_022171.3(TCTA):c.215G>A (p.Gly72Asp)	TCTA (G72D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312189	NM_022171.3(TCTA):c.223G>A (p.Gly75Ser)	TCTA (G75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325071	NM_022171.3(TCTA):c.229A>C (p.Asn77His)	TCTA (N77H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175365	NM_022171.3(TCTA):c.261C>A (p.Phe87Leu)	TCTA (F87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246864	NC_000003.11:g.(?_48895920)_(49570632_?)del	SLC25A20, TCTA +23 more	Deletion	Carnitine acylcarnitine translocase deficiency +2 more	GPathogenic
Select item 1527017	GRCh37/hg19 3p21.31(chr3:49060512-49678685)	AMT, BSN +17 more	Copy number gain	not specified	GUncertain significance
Select item 1510798	NC_000003.11:g.(?_49394821)_(49459947_?)dup	TCTA, RHOA +3 more	Duplication	Non-ketotic hyperglycinemia	GUncertain significance
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	AMIGO3, AMT +64 more	Copy number loss	not provided	GPathogenic
Select item 833037	NC_000003.12:g.(?_49121216)_(49533209_?)del	CCDC71, CIMIP7 +11 more	Deletion	Pierson syndrome +1 more	GPathogenic
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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Items: 20