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

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2346742	NM_020995.4(HPR):c.97C>G (p.Arg33Gly)	HPR (R33G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2346741	NM_020995.4(HPR):c.101T>G (p.Phe34Cys)	HPR (F34C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2224727	NM_020995.4(HPR):c.104C>A (p.Pro35Gln)	HPR (P35Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2474966	NM_020995.4(HPR):c.109C>A (p.Pro37Thr)	HPR (P37T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106807	NM_020995.4(HPR):c.115G>A (p.Glu39Lys)	HPR (E39K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2314325	NM_020995.4(HPR):c.119T>C (p.Ile40Thr)	HPR (I40T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2227282	NM_020995.4(HPR):c.143T>C (p.Leu48Ser)	HPR (L48S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2227283	NM_020995.4(HPR):c.145T>G (p.Phe49Val)	HPR (F49V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2394955	NM_020995.4(HPR):c.148C>T (p.Arg50Cys)	HPR (R50C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106809	NM_020995.4(HPR):c.173G>C (p.Arg58Thr)	HPR (R58T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106808	NM_020995.4(HPR):c.173G>A (p.Arg58Lys)	HPR (R58K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2292287	NM_020995.4(HPR):c.178C>T (p.Arg60Cys)	HPR (R60C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213685	NM_020995.4(HPR):c.179G>A (p.Arg60His)	HPR (R60H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2529692	NM_020995.4(HPR):c.287A>G (p.Asn96Ser)	HPR (N96S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2211476	NM_020995.4(HPR):c.298C>G (p.Pro100Ala)	HPR (P100A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3284722	NM_020995.4(HPR):c.308G>A (p.Arg103Gln)	HPR (R103Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3284723	NM_020995.4(HPR):c.412T>C (p.Trp138Arg)	HPR (W138R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106810	NM_020995.4(HPR):c.443T>C (p.Leu148Pro)	HPR (L28P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241342	NM_020995.4(HPR):c.445A>C (p.Asn149His)	HPR (N149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224872	NM_020995.4(HPR):c.471A>T (p.Lys157Asn)	HPR (K157N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364735	NM_020995.4(HPR):c.476T>C (p.Ile159Thr)	HPR (I159T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106811	NM_020995.4(HPR):c.544C>G (p.Pro182Ala)	HPR (P182A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106812	NM_020995.4(HPR):c.553C>T (p.His185Tyr)	HPR (H65Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369572	NM_020995.4(HPR):c.554A>C (p.His185Pro)	HPR (H185P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602758	NM_020995.4(HPR):c.628C>T (p.Pro210Ser)	HPR (P210S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368364	NM_020995.4(HPR):c.661G>T (p.Gly221Cys)	HPR (G101C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294246	NM_020995.4(HPR):c.676T>G (p.Trp226Gly)	HPR (W226G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388043	NM_020995.4(HPR):c.748G>A (p.Asp250Asn)	HPR (D250N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477122	NM_020995.4(HPR):c.770G>A (p.Gly257Asp)	HPR (G137D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477005	NM_020995.4(HPR):c.820C>T (p.Pro274Ser)	HPR (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106813	NM_020995.4(HPR):c.823A>G (p.Ile275Val)	HPR (I155V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511766	NM_020995.4(HPR):c.850G>A (p.Gly284Ser)	HPR (G164S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401109	NM_020995.4(HPR):c.860A>C (p.Lys287Thr)	HPR (K167T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351815	NM_020995.4(HPR):c.893G>A (p.Gly298Asp)	HPR (G298D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106814	NM_020995.4(HPR):c.898G>A (p.Ala300Thr)	HPR (A180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106815	NM_020995.4(HPR):c.907G>A (p.Val303Ile)	HPR (V303I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205108	NM_020995.4(HPR):c.938C>T (p.Ala313Val)	HPR (A313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342424	NM_020995.4(HPR):c.940G>A (p.Ala314Thr)	HPR (A194T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216526	NM_020995.4(HPR):c.970G>T (p.Ala324Ser)	HPR (A324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456863	NM_020995.4(HPR):c.973G>A (p.Val325Met)	HPR (V205M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40