ClinVar for Gene (Select 57479) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219312	NM_020719.3(PRR12):c.724C>T (p.Pro242Ser)	PRR12 (P242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219311	NM_020719.3(PRR12):c.709C>G (p.Pro237Ala)	PRR12 (P237A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219310	NM_020719.3(PRR12):c.6094C>A (p.His2032Asn)	PRR12 (H2032N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219308	NM_020719.3(PRR12):c.541G>A (p.Gly181Arg)	PRR12 (G181R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219307	NM_020719.3(PRR12):c.5207G>A (p.Arg1736Gln)	PRR12 (R1736Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219306	NM_020719.3(PRR12):c.5126C>T (p.Thr1709Met)	PRR12 (T1709M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219305	NM_020719.3(PRR12):c.5077C>T (p.Pro1693Ser)	PRR12 (P1693S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219304	NM_020719.3(PRR12):c.5074C>A (p.Pro1692Thr)	PRR12 (P1692T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219303	NM_020719.3(PRR12):c.4685A>G (p.Asp1562Gly)	PRR12 (D1562G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219302	NM_020719.3(PRR12):c.4499C>T (p.Pro1500Leu)	PRR12 (P1500L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219301	NM_020719.3(PRR12):c.4487C>A (p.Pro1496Gln)	PRR12 (P1496Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219300	NM_020719.3(PRR12):c.4481G>A (p.Ser1494Asn)	PRR12 (S1494N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219299	NM_020719.3(PRR12):c.4285G>A (p.Ala1429Thr)	PRR12 (A1429T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219298	NM_020719.3(PRR12):c.4225C>A (p.Pro1409Thr)	PRR12 (P1409T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219297	NM_020719.3(PRR12):c.4019C>T (p.Ala1340Val)	PRR12 (A1340V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219296	NM_020719.3(PRR12):c.3650C>T (p.Thr1217Ile)	PRR12 (T1217I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219295	NM_020719.3(PRR12):c.3602G>T (p.Arg1201Leu)	PRR12 (R1201L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219293	NM_020719.3(PRR12):c.3491G>A (p.Arg1164His)	PRR12 (R1164H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219292	NM_020719.3(PRR12):c.3454C>T (p.Pro1152Ser)	PRR12 (P1152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219291	NM_020719.3(PRR12):c.3452G>T (p.Gly1151Val)	PRR12 (G1151V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219290	NM_020719.3(PRR12):c.3398C>T (p.Ala1133Val)	PRR12 (A1133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219289	NM_020719.3(PRR12):c.3383G>T (p.Cys1128Phe)	PRR12 (C1128F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219288	NM_020719.3(PRR12):c.3149C>T (p.Ala1050Val)	PRR12 (A1050V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219287	NM_020719.3(PRR12):c.299C>A (p.Pro100His)	PRR12 (P100H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219286	NM_020719.3(PRR12):c.2951C>A (p.Pro984His)	PRR12 (P984H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219285	NM_020719.3(PRR12):c.2930G>C (p.Gly977Ala)	PRR12 (G977A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219284	NM_020719.3(PRR12):c.2921C>T (p.Pro974Leu)	PRR12 (P974L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219282	NM_020719.3(PRR12):c.2876C>T (p.Ala959Val)	PRR12 (A959V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219281	NM_020719.3(PRR12):c.2770C>A (p.Pro924Thr)	PRR12 (P924T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219280	NM_020719.3(PRR12):c.2594G>A (p.Ser865Asn)	PRR12 (S865N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219279	NM_020719.3(PRR12):c.2486G>A (p.Arg829His)	PRR12 (R829H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219278	NM_020719.3(PRR12):c.2396C>G (p.Pro799Arg)	PRR12 (P799R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219277	NM_020719.3(PRR12):c.2387C>T (p.Pro796Leu)	PRR12 (P796L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219276	NM_020719.3(PRR12):c.2381T>C (p.Leu794Pro)	PRR12 (L794P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219275	NM_020719.3(PRR12):c.2362C>G (p.Pro788Ala)	PRR12 (P788A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219274	NM_020719.3(PRR12):c.2338G>A (p.Gly780Ser)	PRR12 (G780S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219272	NM_020719.3(PRR12):c.2035G>A (p.Gly679Arg)	PRR12 (G679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219271	NM_020719.3(PRR12):c.1961G>A (p.Arg654Gln)	PRR12 (R654Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219268	NM_020719.3(PRR12):c.1855G>A (p.Gly619Arg)	PRR12 (G619R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219267	NM_020719.3(PRR12):c.1631A>G (p.His544Arg)	PRR12 (H544R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219266	NM_020719.3(PRR12):c.1442A>C (p.Gln481Pro)	PRR12 (Q481P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219265	NM_020719.3(PRR12):c.1294G>T (p.Ala432Ser)	PRR12 (A432S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219264	NM_020719.3(PRR12):c.1223C>T (p.Pro408Leu)	PRR12 (P408L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219263	NM_020719.3(PRR12):c.1222C>G (p.Pro408Ala)	PRR12 (P408A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219262	NM_020719.3(PRR12):c.1135G>A (p.Gly379Ser)	PRR12 (G379S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219261	NM_020719.3(PRR12):c.1094C>G (p.Pro365Arg)	PRR12 (P365R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068744	NM_020719.3(PRR12):c.1029T>C (p.Ala343=)	PRR12	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3067481	NM_020719.3(PRR12):c.4455A>C (p.Pro1485=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3067344	NM_020719.3(PRR12):c.1128T>G (p.Gly376=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3066032	NM_020719.3(PRR12):c.3355C>T (p.Arg1119Trp)	PRR12 (R1119W)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 3065991	NM_020719.3(PRR12):c.1205del (p.Gly402fs)	PRR12 (G402fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 3061967	NM_020719.3(PRR12):c.521del (p.Pro174fs)	PRR12 (P174fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 3060389	NM_020719.3(PRR12):c.273T>C (p.Leu91=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3058161	NM_020719.3(PRR12):c.1441C>T (p.Gln481Ter)	PRR12 (Q481*)	Single nucleotide variant (nonsense)	PRR12-related disorder	GPathogenic
Select item 3057676	NM_020719.3(PRR12):c.4266G>A (p.Pro1422=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3057020	NM_020719.3(PRR12):c.4546C>A (p.Pro1516Thr)	PRR12 (P1516T)	Single nucleotide variant (missense variant)	PRR12-related disorder	GBenign
Select item 3056374	NM_020719.3(PRR12):c.5640C>T (p.Pro1880=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3054312	NM_020719.3(PRR12):c.3756C>G (p.Asn1252Lys)	PRR12 (N1252K)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3053703	NM_020719.3(PRR12):c.2309C>T (p.Thr770Met)	PRR12 (T770M)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3052560	NM_020719.3(PRR12):c.5148G>A (p.Glu1716=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3052510	NM_020719.3(PRR12):c.4590C>T (p.Pro1530=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3051614	NM_020719.3(PRR12):c.1230T>G (p.Arg410=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3051503	NM_020719.3(PRR12):c.2367C>T (p.Asp789=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3051359	NM_020719.3(PRR12):c.261C>T (p.Ser87=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3049308	NM_020719.3(PRR12):c.5637G>A (p.Leu1879=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3048179	NM_020719.3(PRR12):c.2926G>C (p.Ala976Pro)	PRR12 (A976P)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3048007	NM_020719.3(PRR12):c.1275C>T (p.Ala425=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3047137	NM_020719.3(PRR12):c.315C>T (p.Ser105=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3047115	NM_020719.3(PRR12):c.2289C>T (p.Ser763=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3047070	NM_020719.3(PRR12):c.3903G>A (p.Ala1301=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3046858	NM_020719.3(PRR12):c.2446G>A (p.Ala816Thr)	PRR12 (A816T)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3046612	NM_020719.3(PRR12):c.4809C>T (p.Ile1603=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3046522	NM_020719.3(PRR12):c.4695C>T (p.Ala1565=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3045462	NM_020719.3(PRR12):c.3300G>A (p.Glu1100=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3045261	NM_020719.3(PRR12):c.4014C>T (p.Ser1338=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3044262	NM_020719.3(PRR12):c.1668C>T (p.Gly556=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3043981	NM_020719.3(PRR12):c.3219C>G (p.Leu1073=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3043921	NM_020719.3(PRR12):c.4254C>A (p.Thr1418=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3042705	NM_020719.3(PRR12):c.2511A>C (p.Pro837=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3042555	NM_020719.3(PRR12):c.5853C>T (p.Ser1951=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3041657	NM_020719.3(PRR12):c.4602T>C (p.Ser1534=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GBenign
Select item 3041071	NM_020719.3(PRR12):c.4496C>T (p.Pro1499Leu)	PRR12 (P1499L)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3040359	NM_020719.3(PRR12):c.1110C>T (p.Gly370=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3039946	NM_020719.3(PRR12):c.2727C>T (p.Pro909=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3039865	NM_020719.3(PRR12):c.1130G>T (p.Gly377Val)	PRR12 (G377V)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3038571	NM_020719.3(PRR12):c.-3T>G	LOC130064931, PRR12	Single nucleotide variant (5 prime UTR variant)	PRR12-related disorder	GLikely benign
Select item 3037957	NM_020719.3(PRR12):c.4122C>T (p.Leu1374=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3037909	NM_020719.3(PRR12):c.4495C>T (p.Pro1499Ser)	PRR12 (P1499S)	Single nucleotide variant (missense variant)	PRR12-related disorder	GBenign
Select item 3037708	NM_020719.3(PRR12):c.678T>G (p.Pro226=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3036968	NM_020719.3(PRR12):c.3387C>T (p.Arg1129=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3036885	NM_020719.3(PRR12):c.5228AGAAGG[1] (p.1739EK[3])	PRR12	Microsatellite (inframe deletion)	PRR12-related disorder	GLikely benign
Select item 3036837	NM_020719.3(PRR12):c.5419G>A (p.Gly1807Ser)	PRR12 (G1807S)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3036698	NM_020719.3(PRR12):c.4280C>T (p.Ala1427Val)	PRR12 (A1427V)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3036654	NM_020719.3(PRR12):c.774C>T (p.Ala258=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3034240	NM_020719.3(PRR12):c.3175C>T (p.Leu1059Phe)	PRR12 (L1059F)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3034176	NM_020719.3(PRR12):c.2112C>T (p.Ile704=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3033509	NM_020719.3(PRR12):c.2778C>T (p.Phe926=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign
Select item 3032565	NM_020719.3(PRR12):c.3809T>C (p.Val1270Ala)	PRR12 (V1270A)	Single nucleotide variant (missense variant)	PRR12-related disorder	GLikely benign
Select item 3032455	NM_020719.3(PRR12):c.4413T>C (p.Pro1471=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related disorder	GLikely benign

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