NAT9[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2228964	NM_015654.5(NAT9):c.611C>T (p.Ala204Val)	NAT9 (A199V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3298489	NM_015654.5(NAT9):c.583G>A (p.Glu195Lys)	NAT9 (E194K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176657	NM_015654.5(NAT9):c.547G>A (p.Glu183Lys)	NAT9 (E181K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3176654	NM_015654.5(NAT9):c.461G>C (p.Arg154Pro)	NAT9 (R148P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3298490	NM_015654.5(NAT9):c.451C>T (p.Pro151Ser)	NAT9 (P149S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469863	NM_015654.5(NAT9):c.448G>A (p.Glu150Lys)	NAT9 (E149K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210198	NM_015654.5(NAT9):c.338C>G (p.Pro113Arg)	NAT9 (P118R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298491	NM_015654.5(NAT9):c.197C>A (p.Thr66Asn)	NAT9 (T66N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176647	NM_015654.5(NAT9):c.197C>T (p.Thr66Ile)	NAT9 (T41I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267437	NM_015654.5(NAT9):c.128C>T (p.Ser43Leu)	NAT9 (S43L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176662	NM_015654.5(NAT9):c.65A>T (p.Glu22Val)	NAT9 (E22V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 23