NT5C[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +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 2370817	NM_014595.3(NT5C):c.602A>T (p.Glu201Val)	NT5C (E201V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483792	NM_014595.3(NT5C):c.529A>G (p.Arg177Gly)	NT5C (R137G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369872	NM_014595.3(NT5C):c.527C>G (p.Thr176Arg)	NT5C (T136R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233767	NM_014595.3(NT5C):c.505C>G (p.Arg169Gly)	NT5C (R169G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277862	NM_014595.3(NT5C):c.445G>A (p.Val149Ile)	NT5C (V149I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2232316	NM_014595.3(NT5C):c.427A>G (p.Ile143Val)	NT5C (I143V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3202469	NM_014595.3(NT5C):c.391A>G (p.Thr131Ala)	NT5C (T131A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262942	NM_014595.3(NT5C):c.250G>T (p.Val84Leu)	NT5C (V84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354333	NM_014595.3(NT5C):c.139C>A (p.Arg47Ser)	LOC130061638, NT5C (R47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517534	NM_014595.3(NT5C):c.131T>C (p.Phe44Ser)	LOC130061638, NT5C (F44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328040	NM_014595.3(NT5C):c.115G>A (p.Glu39Lys)	LOC130061638, NT5C (E39K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202467	NM_014595.3(NT5C):c.109C>T (p.Pro37Ser)	LOC130061638, NT5C (P37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547048	NM_014595.3(NT5C):c.82C>T (p.Arg28Cys)	LOC130061638, NT5C (R28C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202471	NM_014595.3(NT5C):c.74G>A (p.Gly25Asp)	LOC130061638, NT5C (G25D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378717	NM_014595.3(NT5C):c.70C>T (p.Arg24Trp)	LOC130061638, NT5C (R24W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362291	NM_014595.3(NT5C):c.62G>A (p.Gly21Asp)	LOC130061638, NT5C (G21D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545094	NM_014595.3(NT5C):c.19G>C (p.Val7Leu)	LOC130061638, NT5C (V7L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511548	NM_014595.3(NT5C):c.5C>T (p.Ala2Val)	LOC130061638, NT5C (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	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 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	GRB2, HID1 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1526586	GRCh37/hg19 17q25.1(chr17:73049227-73533226)	ARMC7, CASKIN2 +14 more	Copy number loss	not specified	GUncertain significance
Select item 1340452	GRCh37/hg19 17q25.1(chr17:73045938-73310951)x3	ARMC7, GGA3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
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 564472	GRCh37/hg19 17q25.1(chr17:73057756-73429731)x3	ARMC7, GGA3 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
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 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
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	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +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: 37