NDRG3[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3186305	NM_032013.4(NDRG3):c.1085C>G (p.Pro362Arg)	NDRG3 (P362R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409561	NM_032013.4(NDRG3):c.1040T>C (p.Val347Ala)	NDRG3 (V335A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456569	NM_032013.4(NDRG3):c.1034G>A (p.Arg345Gln)	NDRG3 (R333Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611520	NM_032013.4(NDRG3):c.988C>T (p.His330Tyr)	NDRG3 (H318Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298990	NM_032013.4(NDRG3):c.977G>A (p.Arg326Gln)	NDRG3 (R326Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186346	NM_032013.4(NDRG3):c.871G>C (p.Gly291Arg)	NDRG3 (G279R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186342	NM_032013.4(NDRG3):c.866A>C (p.Asp289Ala)	NDRG3 (D289A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594579	NM_032013.4(NDRG3):c.827G>A (p.Arg276His)	NDRG3 (R276H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308597	NM_032013.4(NDRG3):c.821A>G (p.Asn274Ser)	NDRG3 (N274S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186333	NM_032013.4(NDRG3):c.791C>T (p.Ser264Leu)	NDRG3 (S252L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381360	NM_032013.4(NDRG3):c.722T>C (p.Ile241Thr)	NDRG3 (I229T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298992	NM_032013.4(NDRG3):c.595T>G (p.Leu199Val)	NDRG3 (L199V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298991	NM_032013.4(NDRG3):c.535T>C (p.Ser179Pro)	NDRG3 (S167P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186322	NM_032013.4(NDRG3):c.314C>T (p.Pro105Leu)	NDRG3 (P105L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298988	NM_032013.4(NDRG3):c.234G>C (p.Glu78Asp)	NDRG3 (E78D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186318	NM_032013.4(NDRG3):c.224T>G (p.Phe75Cys)	NDRG3 (F75C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529833	NM_032013.4(NDRG3):c.152A>G (p.Lys51Arg)	NDRG3 (K39R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242520	NM_032013.4(NDRG3):c.133A>G (p.Thr45Ala)	NDRG3 (T45A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186309	NM_032013.4(NDRG3):c.118G>A (p.Gly40Ser)	NDRG3 (G28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298993	NM_032013.4(NDRG3):c.82T>C (p.Phe28Leu)	NDRG3 (F28L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593523	NM_032013.4(NDRG3):c.68G>C (p.Arg23Thr)	NDRG3 (R23T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341042	GRCh37/hg19 20q11.23(chr20:35335325-35606892)x3	DSN1, NDRG3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic

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Items: 30