GNAT3[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 254280	Single allele	CACNA2D1, CACNA2D1-AS1 +79 more	Deletion	Seizure +1 more	GLikely pathogenic
Select item 3100575	NM_001102386.3(GNAT3):c.1060T>G (p.Phe354Val)	GNAT3 (F354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100574	NM_001102386.3(GNAT3):c.1038G>C (p.Glu346Asp)	GNAT3 (E346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271045	NM_001102386.3(GNAT3):c.994G>A (p.Val332Ile)	GNAT3 (V332I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607094	NM_001102386.3(GNAT3):c.929T>G (p.Leu310Arg)	GNAT3 (L310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100582	NM_001102386.3(GNAT3):c.926A>G (p.Asp309Gly)	GNAT3 (D309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374347	NM_001102386.3(GNAT3):c.898G>A (p.Gly300Arg)	GNAT3 (G300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100581	NM_001102386.3(GNAT3):c.828A>C (p.Glu276Asp)	GNAT3 (E276D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100580	NM_001102386.3(GNAT3):c.785C>T (p.Thr262Ile)	GNAT3 (T262I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538527	NM_001102386.3(GNAT3):c.776T>C (p.Phe259Ser)	GNAT3 (F259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327513	NM_001102386.3(GNAT3):c.712G>A (p.Glu238Lys)	GNAT3 (E238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367184	NM_001102386.3(GNAT3):c.696G>T (p.Met232Ile)	GNAT3 (M232I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407781	NM_001102386.3(GNAT3):c.582G>T (p.Leu194Phe)	GNAT3 (L194F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613818	NM_001102386.3(GNAT3):c.509A>G (p.Asn170Ser)	GNAT3 (N170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100579	NM_001102386.3(GNAT3):c.508A>G (p.Asn170Asp)	GNAT3 (N170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392288	NM_001102386.3(GNAT3):c.397G>A (p.Asp133Asn)	GNAT3, LOC121175349 (D133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100578	NM_001102386.3(GNAT3):c.299G>T (p.Ser100Ile)	GNAT3 (S100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281765	NM_001102386.3(GNAT3):c.248C>G (p.Ala83Gly)	GNAT3 (A83G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284469	NM_001102386.3(GNAT3):c.248C>T (p.Ala83Val)	GNAT3 (A83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379451	NM_001102386.3(GNAT3):c.221A>C (p.Tyr74Ser)	GNAT3 (Y74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100577	NM_001102386.3(GNAT3):c.191A>C (p.Gln64Pro)	GNAT3 (Q64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457515	NM_001102386.3(GNAT3):c.140G>C (p.Ser47Thr)	GNAT3 (S47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100576	NM_001102386.3(GNAT3):c.113T>A (p.Leu38Gln)	GNAT3 (L38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520426	NM_001102386.3(GNAT3):c.44G>T (p.Arg15Ile)	GNAT3 (R15I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310846	NM_001102386.3(GNAT3):c.27C>G (p.Ser9Arg)	GNAT3 (S9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062947	GRCh37/hg19 7q21.11(chr7:80107707-80303798)x1	CD36, GNAT3	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527371	GRCh37/hg19 7q21.11(chr7:78430626-82605557)	CACNA2D1, CD36 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1527367	GRCh37/hg19 7q11.23-21.11(chr7:77310644-84461089)	CACNA2D1, CD36 +11 more	Copy number loss	not specified	GPathogenic
Select item 815000	GRCh37/hg19 7q21.11(chr7:80026946-80214177)x1	GNAT3	Copy number loss	not provided	GLikely benign
Select item 689333	GRCh37/hg19 7q21.11(chr7:80119689-80299639)x1	CD36, GNAT3	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560131	Single allele	CD36, GNAI1 +7 more	Deletion	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 394284	GRCh37/hg19 7q21.11(chr7:79393170-80800105)x3	CD36, GNAI1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 45