NUDT3[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 2281236	NM_006703.4(NUDT3):c.511A>T (p.Ile171Phe)	NUDT3, RPS10-NUDT3 (I171F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320958	NM_006703.4(NUDT3):c.65C>G (p.Ala22Gly)	LOC129996212, NUDT3 +1 more (A22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202815	NM_006703.4(NUDT3):c.17C>T (p.Ser6Leu)	LOC129996212, NUDT3 +1 more (S6L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1176845	GRCh37/hg19 6p21.31(chr6:34360041-34392998)x3	NUDT3, RPS10	Copy number gain	not provided	GUncertain significance
Select item 688994	GRCh37/hg19 6p21.31(chr6:34266844-34385871)x3	NUDT3, RPS10	Copy number gain	not provided	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic