57479[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 434

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 3038571	NM_020719.3(PRR12):c.-3T>G	LOC130064931, PRR12	Single nucleotide variant (5 prime UTR variant)	PRR12-related condition	GLikely benign
Select item 2320402	NM_020719.3(PRR12):c.65A>G (p.Tyr22Cys)	LOC130064931, PRR12 (Y22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297483	NM_020719.3(PRR12):c.205T>A (p.Ser69Thr)	PRR12 (S69T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376395	NM_020719.3(PRR12):c.220A>C (p.Thr74Pro)	PRR12 (T74P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 774961	NM_020719.3(PRR12):c.235G>A (p.Ala79Thr)	PRR12 (A79T)	Single nucleotide variant (missense variant)	PRR12-related condition +1 more	GBenign/Likely benign
Select item 2226831	NM_020719.3(PRR12):c.236C>A (p.Ala79Glu)	PRR12 (A79E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051359	NM_020719.3(PRR12):c.261C>T (p.Ser87=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 3060389	NM_020719.3(PRR12):c.273T>C (p.Leu91=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GBenign
Select item 2322810	NM_020719.3(PRR12):c.293G>T (p.Arg98Leu)	PRR12 (R98L)	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 1804511	NM_020719.3(PRR12):c.313T>C (p.Ser105Pro)	PRR12 (S105P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047137	NM_020719.3(PRR12):c.315C>T (p.Ser105=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GBenign
Select item 1704917	NM_020719.3(PRR12):c.317C>T (p.Ala106Val)	PRR12 (A106V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013598	NM_020719.3(PRR12):c.334dup (p.Gln112fs)	PRR12 (Q112fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 734431	NM_020719.3(PRR12):c.342C>T (p.Arg114=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3029528	NM_020719.3(PRR12):c.384G>A (p.Thr128=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 3029504	NM_020719.3(PRR12):c.423C>T (p.Thr141=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 718819	NM_020719.3(PRR12):c.480C>T (p.Arg160=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2288233	NM_020719.3(PRR12):c.487C>T (p.Pro163Ser)	PRR12 (P163S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501603	NM_020719.3(PRR12):c.505A>G (p.Ser169Gly)	PRR12 (S169G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061967	NM_020719.3(PRR12):c.521del (p.Pro174fs)	PRR12 (P174fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
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 2435263	NM_020719.3(PRR12):c.577C>G (p.Pro193Ala)	PRR12 (P193A)	Single nucleotide variant (missense variant)	Neuroocular syndrome	GUncertain significance
Select item 728930	NM_020719.3(PRR12):c.615C>T (p.Phe205=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650252	NM_020719.3(PRR12):c.633C>T (p.Gly211=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition +1 more	GLikely benign
Select item 1707516	NM_020719.3(PRR12):c.656_657del (p.Leu219fs)	PRR12 (L219fs)	Microsatellite (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 730514	NM_020719.3(PRR12):c.657C>T (p.Leu219=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395865	NM_020719.3(PRR12):c.658G>A (p.Gly220Ser)	PRR12 (G220S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1184840	NM_020719.3(PRR12):c.677dup (p.Tyr227fs)	PRR12 (Y227fs)	Duplication (frameshift variant)	complex microphthalmia	GLikely pathogenic
Select item 2578837	NM_020719.3(PRR12):c.676C>A (p.Pro226Thr)	PRR12 (P226T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2243951	NM_020719.3(PRR12):c.676C>T (p.Pro226Ser)	PRR12 (P226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3037708	NM_020719.3(PRR12):c.678T>G (p.Pro226=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 2577950	NM_020719.3(PRR12):c.695dup (p.Asp233fs)	PRR12 (D233fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2225072	NM_020719.3(PRR12):c.698A>G (p.Asp233Gly)	PRR12 (D233G)	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 3219312	NM_020719.3(PRR12):c.724C>T (p.Pro242Ser)	PRR12 (P242S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3036654	NM_020719.3(PRR12):c.774C>T (p.Ala258=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 2220876	NM_020719.3(PRR12):c.775G>A (p.Glu259Lys)	PRR12 (E259K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1693386	NM_020719.3(PRR12):c.785C>G (p.Ser262Cys)	PRR12 (S262C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1013597	NM_020719.3(PRR12):c.790C>T (p.Gln264Ter)	PRR12 (Q264*)	Single nucleotide variant (nonsense)	Neuroocular syndrome +1 more	GPathogenic
Select item 2572206	NM_020719.3(PRR12):c.806C>T (p.Ser269Leu)	PRR12 (S269L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650253	NM_020719.3(PRR12):c.807G>A (p.Ser269=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1326596	NM_020719.3(PRR12):c.831G>A (p.Pro277=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition +1 more	GBenign
Select item 2546012	NM_020719.3(PRR12):c.835G>C (p.Glu279Gln)	PRR12 (E279Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691178	NM_020719.3(PRR12):c.892G>A (p.Ala298Thr)	PRR12 (A298T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446256	NM_020719.3(PRR12):c.903_909dup (p.Pro304fs)	PRR12 (P304fs)	Duplication (frameshift variant)	Autism +5 more	GPathogenic
Select item 2650254	NM_020719.3(PRR12):c.903A>C (p.Pro301=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2571626	NM_020719.3(PRR12):c.922_923del (p.His308fs)	PRR12 (H308fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 1708253	NM_020719.3(PRR12):c.931C>T (p.Gln311Ter)	PRR12 (Q311*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 2578060	NM_020719.3(PRR12):c.937T>C (p.Tyr313His)	PRR12 (Y313H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574305	NM_020719.3(PRR12):c.998C>T (p.Pro333Leu)	PRR12 (P333L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 769032	NM_020719.3(PRR12):c.1000C>T (p.Leu334=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1314144	NM_020719.3(PRR12):c.1005T>A (p.Gly335=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2279933	NM_020719.3(PRR12):c.1014G>C (p.Glu338Asp)	PRR12 (E338D)	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 2224905	NM_020719.3(PRR12):c.1057G>A (p.Gly353Arg)	PRR12 (G353R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362161	NM_020719.3(PRR12):c.1064C>T (p.Thr355Met)	PRR12 (T355M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2504314	NM_020719.3(PRR12):c.1072G>A (p.Ala358Thr)	PRR12 (A358T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634223	NM_020719.3(PRR12):c.1082G>A (p.Arg361Gln)	PRR12 (R361Q)	Single nucleotide variant (missense variant)	PRR12-related condition	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 2628628	NM_020719.3(PRR12):c.1105G>T (p.Gly369Trp)	PRR12 (G369W)	Single nucleotide variant (missense variant)	PRR12-related condition	GUncertain significance
Select item 3040359	NM_020719.3(PRR12):c.1110C>T (p.Gly370=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 2650255	NM_020719.3(PRR12):c.1110C>G (p.Gly370=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650256	NM_020719.3(PRR12):c.1118C>T (p.Ala373Val)	PRR12 (A373V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228566	NM_020719.3(PRR12):c.1125TGG[1] (p.Gly378_Gly379del)	PRR12	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3067344	NM_020719.3(PRR12):c.1128T>G (p.Gly376=)	PRR12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039865	NM_020719.3(PRR12):c.1130G>T (p.Gly377Val)	PRR12 (G377V)	Single nucleotide variant (missense variant)	PRR12-related condition	GLikely benign
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 2398027	NM_020719.3(PRR12):c.1142G>A (p.Arg381His)	PRR12 (R381H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1727056	NM_020719.3(PRR12):c.1146del (p.Ile383fs)	PRR12 (I383fs)	Deletion (frameshift variant)	Neuroocular syndrome	GLikely pathogenic
Select item 2353021	NM_020719.3(PRR12):c.1147A>G (p.Ile383Val)	PRR12 (I383V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065991	NM_020719.3(PRR12):c.1205del (p.Gly402fs)	PRR12 (G402fs)	Deletion (frameshift variant)	Neuroocular syndrome	GPathogenic
Select item 2298658	NM_020719.3(PRR12):c.1205G>T (p.Gly402Val)	PRR12 (G402V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578172	NM_020719.3(PRR12):c.1213A>G (p.Arg405Gly)	PRR12 (R405G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650257	NM_020719.3(PRR12):c.1217C>A (p.Pro406His)	PRR12 (P406H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3219264	NM_020719.3(PRR12):c.1223C>T (p.Pro408Leu)	PRR12 (P408L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1693341	NM_020719.3(PRR12):c.1225C>G (p.Pro409Ala)	PRR12 (P409A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3051614	NM_020719.3(PRR12):c.1230T>G (p.Arg410=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
Select item 2310409	NM_020719.3(PRR12):c.1231T>C (p.Ser411Pro)	PRR12 (S411P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676829	NM_020719.3(PRR12):c.1232C>A (p.Ser411Ter)	PRR12 (S411*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 1694935	NM_020719.3(PRR12):c.1255_1256del (p.Ser419fs)	PRR12 (S419fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3048007	NM_020719.3(PRR12):c.1275C>T (p.Ala425=)	PRR12	Single nucleotide variant (synonymous variant)	PRR12-related condition	GLikely benign
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 2600008	NM_020719.3(PRR12):c.1315G>A (p.Gly439Arg)	PRR12 (G439R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2344327	NM_020719.3(PRR12):c.1343C>G (p.Pro448Arg)	PRR12 (P448R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2442383	NM_020719.3(PRR12):c.1345C>T (p.Gln449Ter)	PRR12 (Q449*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GLikely pathogenic
Select item 2347665	NM_020719.3(PRR12):c.1388G>C (p.Gly463Ala)	PRR12 (G463A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2257282	NM_020719.3(PRR12):c.1420A>G (p.Ser474Gly)	PRR12 (S474G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578838	NM_020719.3(PRR12):c.1441_1450del (p.Gln481fs)	PRR12 (Q481fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3058161	NM_020719.3(PRR12):c.1441C>T (p.Gln481Ter)	PRR12 (Q481*)	Single nucleotide variant (nonsense)	PRR12-related condition	GPathogenic
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 1341912	NM_020719.3(PRR12):c.1444C>A (p.Pro482Thr)	PRR12 (P482T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1696612	NM_020719.3(PRR12):c.1450A>C (p.Ser484Arg)	PRR12 (S484R)	Single nucleotide variant (missense variant)	PRR12-related neuroocular syndrome	GUncertain significance
Select item 2229398	NM_020719.3(PRR12):c.1474G>C (p.Ala492Pro)	PRR12 (A492P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027175	NM_020719.3(PRR12):c.1507C>T (p.Gln503Ter)	PRR12 (Q503*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2322912	NM_020719.3(PRR12):c.1511G>C (p.Gly504Ala)	PRR12 (G504A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1676830	NM_020719.3(PRR12):c.1521T>G (p.Tyr507Ter)	PRR12 (Y507*)	Single nucleotide variant (nonsense)	Neuroocular syndrome	GPathogenic

<< First< Prev

Page of 5