NANOS3[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 2363461	NM_001098622.3(NANOS3):c.19T>G (p.Trp7Gly)	NANOS3 (W7G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615886	NM_001098622.3(NANOS3):c.31C>G (p.Leu11Val)	NANOS3 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787481	NM_001098622.3(NANOS3):c.134_135insGCCGGAGCCGGTGTCAGC (p.Ala45_Leu46insProGluProValSerAla)	NANOS3	Insertion (inframe_insertion)	not provided	GBenign
Select item 2515555	NM_001098622.3(NANOS3):c.192G>C (p.Lys64Asn)	NANOS3 (K64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313652	NM_001098622.3(NANOS3):c.292G>A (p.Glu98Lys)	NANOS3 (E98K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174737	NM_001098622.3(NANOS3):c.460C>A (p.Pro154Thr)	NANOS3 (P154T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778824	NM_001098622.3(NANOS3):c.497GAG[7] (p.Gly171dup)	NANOS3	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 3174739	NM_001098622.3(NANOS3):c.544C>G (p.Pro182Ala)	NANOS3 (P182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174740	NM_001098622.3(NANOS3):c.563C>T (p.Pro188Leu)	NANOS3 (P188L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 253840	GRCh37/hg19 19p13.2-13.12(chr19:13802749-14003761)x3	MIR24-2, C19orf53 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 25