RPH3AL[gene] and "single gene"[properties] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156013	NM_006987.4(RPH3AL):c.916G>T (p.Ala306Ser)	RPH3AL (A277S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371242	NM_006987.4(RPH3AL):c.904G>A (p.Ala302Thr)	RPH3AL (A273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156012	NM_006987.4(RPH3AL):c.875C>T (p.Pro292Leu)	RPH3AL (P292L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2647153	NM_006987.4(RPH3AL):c.855C>T (p.Pro285=)	RPH3AL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2344834	NM_006987.4(RPH3AL):c.850C>T (p.Arg284Cys)	RPH3AL (R284C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156011	NM_006987.4(RPH3AL):c.847C>G (p.Pro283Ala)	RPH3AL (P283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156010	NM_006987.4(RPH3AL):c.836C>T (p.Pro279Leu)	RPH3AL (P250L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311424	NM_006987.4(RPH3AL):c.820A>T (p.Thr274Ser)	RPH3AL (T245S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407845	NM_006987.4(RPH3AL):c.818G>T (p.Gly273Val)	RPH3AL (G244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521819	NM_006987.4(RPH3AL):c.809G>C (p.Gly270Ala)	RPH3AL (G241A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460747	NM_006987.4(RPH3AL):c.697C>T (p.Arg233Trp)	RPH3AL (R204W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607963	NM_006987.4(RPH3AL):c.691A>G (p.Arg231Gly)	RPH3AL (R202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316003	NM_006987.4(RPH3AL):c.688G>T (p.Val230Phe)	RPH3AL (V230F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315168	NM_006987.4(RPH3AL):c.685G>A (p.Gly229Arg)	RPH3AL (G200R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156008	NM_006987.4(RPH3AL):c.656C>G (p.Ser219Cys)	RPH3AL (S190C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279717	NM_006987.4(RPH3AL):c.629G>A (p.Ser210Asn)	RPH3AL (S181N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151509	GRCh38/hg38 17p13.3(chr17:246768-311632)x3	RPH3AL	Copy number gain	See cases	GBenign
Select item 3156007	NM_006987.4(RPH3AL):c.586C>T (p.Arg196Cys)	RPH3AL (R196C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214194	NM_006987.4(RPH3AL):c.551C>T (p.Pro184Leu)	RPH3AL (P184L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370007	NM_006987.4(RPH3AL):c.524C>T (p.Pro175Leu)	RPH3AL (P175L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307853	NM_006987.4(RPH3AL):c.512G>A (p.Arg171Gln)	RPH3AL (R142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204715	NM_006987.4(RPH3AL):c.503C>T (p.Thr168Ile)	RPH3AL (T139I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461062	NM_006987.4(RPH3AL):c.475C>T (p.Leu159Phe)	RPH3AL (L130F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469742	NM_006987.4(RPH3AL):c.455G>A (p.Gly152Glu)	RPH3AL (G152E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268180	NM_006987.4(RPH3AL):c.452C>G (p.Ser151Trp)	RPH3AL (S151W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 144241	GRCh38/hg38 17p13.3(chr17:266752-291920)x1	RPH3AL	Copy number loss	See cases	GBenign
Select item 3156005	NM_006987.4(RPH3AL):c.289C>T (p.Leu97Phe)	RPH3AL (L97F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315163	NM_006987.4(RPH3AL):c.254G>A (p.Arg85Gln)	RPH3AL (R85Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315165	NM_006987.4(RPH3AL):c.149C>T (p.Ala50Val)	RPH3AL (A50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315164	NM_006987.4(RPH3AL):c.125G>T (p.Arg42Met)	RPH3AL (R42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315166	NM_006987.4(RPH3AL):c.71G>A (p.Arg24Gln)	RPH3AL (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598107	NM_006987.4(RPH3AL):c.55C>T (p.Arg19Trp)	RPH3AL (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345853	NM_006987.4(RPH3AL):c.25G>A (p.Gly9Arg)	RPH3AL (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622138	NM_006987.4(RPH3AL):c.19G>A (p.Gly7Ser)	RPH3AL (G7S)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Items: 34