RGL1[gene] and "single gene"[properties] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3153544	NM_015149.6(RGL1):c.34G>A (p.Glu12Lys)	RGL1 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153545	NM_015149.6(RGL1):c.36G>C (p.Glu12Asp)	RGL1 (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597398	NM_015149.6(RGL1):c.62A>G (p.Lys21Arg)	RGL1 (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153543	NM_001297671.3(RGL1):c.110C>T (p.Ala37Val)	RGL1 (A72V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522624	NM_001297671.3(RGL1):c.370A>T (p.Asn124Tyr)	RGL1 (N122Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252495	NM_001297671.3(RGL1):c.529C>T (p.Arg177Trp)	RGL1 (R177W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314132	NM_001297671.3(RGL1):c.625A>G (p.Thr209Ala)	RGL1 (T244A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153546	NM_001297671.3(RGL1):c.694T>C (p.Ser232Pro)	RGL1 (S267P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546389	NM_001297671.3(RGL1):c.727A>G (p.Met243Val)	RGL1 (M241V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313962	NM_001297671.3(RGL1):c.1094T>G (p.Phe365Cys)	RGL1 (F363C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153535	NM_001297671.3(RGL1):c.1191G>C (p.Gln397His)	RGL1 (Q395H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312935	NM_001297671.3(RGL1):c.1340A>G (p.Lys447Arg)	RGL1 (K418R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153537	NM_001297671.3(RGL1):c.1391C>T (p.Ala464Val)	RGL1 (A462V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153538	NM_001297671.3(RGL1):c.1469A>C (p.Glu490Ala)	RGL1 (E490A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318133	NM_001297671.3(RGL1):c.1494T>G (p.Ile498Met)	RGL1 (I533M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153539	NM_001297671.3(RGL1):c.1535G>A (p.Arg512Gln)	RGL1 (R510Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313963	NM_001297671.3(RGL1):c.1769C>A (p.Ser590Tyr)	RGL1 (S561Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375871	NM_001297671.3(RGL1):c.1792G>T (p.Asp598Tyr)	RGL1 (D569Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153541	NM_001297671.3(RGL1):c.1870C>G (p.His624Asp)	RGL1 (H624D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313959	NM_001297671.3(RGL1):c.1877G>T (p.Arg626Leu)	RGL1 (R624L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218711	NM_001297671.3(RGL1):c.1915C>T (p.Pro639Ser)	RGL1 (P610S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153542	NM_001297671.3(RGL1):c.1942G>T (p.Asp648Tyr)	RGL1 (D619Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516391	NM_001297671.3(RGL1):c.1958G>A (p.Arg653His)	RGL1 (R624H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621469	NM_001297671.3(RGL1):c.2060A>G (p.Asn687Ser)	RGL1 (N658S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313958	NM_001297671.3(RGL1):c.2108C>T (p.Ser703Leu)	RGL1 (S674L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313961	NM_001297671.3(RGL1):c.2215C>A (p.Gln739Lys)	RGL1 (Q774K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 565204	GRCh37/hg19 1q25.3(chr1:183744212-183847029)x1	RGL1	Copy number loss	not provided	GUncertain significance

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Items: 27