"Ambry Genetics"[submitter] AND "RFPL1S"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2210126	NM_021026.2(RFPL1):c.125T>C (p.Val42Ala)	RFPL1, RFPL1S (V13A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2231247	NM_021026.2(RFPL1):c.152T>G (p.Met51Arg)	RFPL1, RFPL1S (M51R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2550242	NM_021026.2(RFPL1):c.167G>A (p.Gly56Glu)	RFPL1, RFPL1S (G27E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153390	NM_021026.2(RFPL1):c.193A>G (p.Asn65Asp)	RFPL1, RFPL1S (N65D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153391	NM_021026.2(RFPL1):c.229C>A (p.Leu77Ile)	RFPL1, RFPL1S (L48I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313875	NM_021026.2(RFPL1):c.260A>G (p.Lys87Arg)	RFPL1, RFPL1S (K58R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153392	NM_021026.2(RFPL1):c.352C>T (p.Pro118Ser)	RFPL1, RFPL1S (P89S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313874	NM_021026.2(RFPL1):c.383C>T (p.Thr128Ile)	RFPL1, RFPL1S (T128I +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2263610	NM_021026.2(RFPL1):c.412C>T (p.Leu138Phe)	RFPL1, RFPL1S (L138F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153393	NM_021026.2(RFPL1):c.482A>C (p.Glu161Ala)	RFPL1, RFPL1S (E132A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313872	NM_021026.2(RFPL1):c.499A>G (p.Ile167Val)	RFPL1, RFPL1S (I138V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2278699	NM_021026.2(RFPL1):c.535C>T (p.Arg179Cys)	RFPL1S, RFPL1 (R150C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153394	NM_021026.2(RFPL1):c.536G>A (p.Arg179His)	RFPL1, RFPL1S (R150H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153395	NM_021026.2(RFPL1):c.637C>T (p.Arg213Cys)	RFPL1, RFPL1S (R213C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2226574	NM_021026.2(RFPL1):c.638G>A (p.Arg213His)	RFPL1, RFPL1S (R213H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2544701	NM_021026.2(RFPL1):c.652G>A (p.Val218Met)	RFPL1, RFPL1S (V189M +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153396	NM_021026.2(RFPL1):c.722A>C (p.Lys241Thr)	RFPL1, RFPL1S (K212T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153397	NM_021026.2(RFPL1):c.838C>A (p.His280Asn)	RFPL1, RFPL1S (H280N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153398	NM_021026.2(RFPL1):c.847T>C (p.Phe283Leu)	RFPL1, RFPL1S (F254L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3153399	NM_021026.2(RFPL1):c.863C>T (p.Pro288Leu)	RFPL1, RFPL1S (P259L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313873	NM_021026.2(RFPL1):c.877A>G (p.Lys293Glu)	RFPL1, RFPL1S (K264E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153400	NM_021026.2(RFPL1):c.880A>C (p.Ser294Arg)	RFPL1, RFPL1S (S265R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153401	NM_021026.2(RFPL1):c.910C>G (p.Pro304Ala)	RFPL1, RFPL1S (P304A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2603535	NM_021026.2(RFPL1):c.925G>A (p.Ala309Thr)	RFPL1, RFPL1S (A280T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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Items: 24