ClinVar for Gene (Select 51499) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3182159	NM_016399.3(TRIAP1):c.217G>A (p.Glu73Lys)	TRIAP1 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2525823	NM_016399.3(TRIAP1):c.40G>A (p.Glu14Lys)	LOC112163529, TRIAP1 (E14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304263	NM_016399.3(TRIAP1):c.139T>C (p.Cys47Arg)	LOC112163529, TRIAP1 (C47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249865	NM_016399.3(TRIAP1):c.91G>T (p.Asp31Tyr)	LOC112163529, TRIAP1 (D31Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225497	NM_016399.3(TRIAP1):c.219A>C (p.Glu73Asp)	TRIAP1 (E73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809497	GRCh37/hg19 12q24.31(chr12:120761046-121280839)x4	ACADS, CABP1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1808296	GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3	COQ5, COX6A1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1527741	GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)	PXN, RAB35 +24 more	Copy number gain	not specified	GLikely pathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 563963	GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3	PXN, ACADS +19 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 393734	GRCh37/hg19 12q24.31(chr12:120875916-120884607)x3	COX6A1, GATC +1 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 58232	GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3	CFAP251, CIT +264 more	Copy number gain	See cases	GUncertain significance
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 20