"GeneDx"[submitter] AND "P3H2"[gene] - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 1280894	NM_018192.4(P3H2):c.*188CT[13]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1277801	NM_018192.4(P3H2):c.*188CT[14]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1267579	NM_018192.4(P3H2):c.*188CT[16]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1220167	NM_018192.4(P3H2):c.*188CT[15]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1195289	NM_018192.4(P3H2):c.*188CT[17]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1230099	NM_018192.4(P3H2):c.*188CT[10]	P3H2	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1198632	NM_018192.4(P3H2):c.*134G>A	P3H2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1235572	NM_018192.4(P3H2):c.2034+287G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243765	NM_018192.4(P3H2):c.2034+263G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241801	NM_018192.4(P3H2):c.2034+189G>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 452400	NM_018192.4(P3H2):c.2004G>C (p.Trp668Cys)	P3H2 (W487C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1181981	NM_018192.4(P3H2):c.1893+36G>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200059	NM_018192.4(P3H2):c.1818-106A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 424203	NM_018192.4(P3H2):c.1726del (p.Ser576fs)	P3H2 (S576fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1261489	NM_018192.4(P3H2):c.1700-108T>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277821	NM_018192.4(P3H2):c.1700-273C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289360	NM_018192.4(P3H2):c.1700-342T>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198225	NM_018192.4(P3H2):c.1699+277G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259343	NM_018192.4(P3H2):c.1699+253dup	P3H2	Duplication (intron variant)	not provided	GBenign
Select item 1226354	NM_018192.4(P3H2):c.1699+102C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169547	NM_018192.4(P3H2):c.1549-14dup	P3H2	Duplication (intron variant)	not provided	GBenign
Select item 1166652	NM_018192.4(P3H2):c.1549-10T>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1167009	NM_018192.4(P3H2):c.1549-14_1549-13insG	P3H2	Insertion (intron variant)	not provided	GBenign
Select item 1282379	NM_018192.4(P3H2):c.1549-48A>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211145	NM_018192.4(P3H2):c.1549-145C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278195	NM_018192.4(P3H2):c.1548+199C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207034	NM_018192.4(P3H2):c.1548+149C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167206	NM_018192.4(P3H2):c.1548+19T>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1186179	NM_018192.4(P3H2):c.1453-182A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707396	NM_018192.4(P3H2):c.1452+186G>T	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727767	NM_018192.4(P3H2):c.1452+7A>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 424202	NM_018192.4(P3H2):c.1452+1G>T	P3H2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 620231	NM_018192.4(P3H2):c.1372C>T (p.Gln458Ter)	P3H2 (Q277* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 452529	NM_018192.4(P3H2):c.1328del (p.Gly443fs)	P3H2 (G262fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1276622	NM_018192.4(P3H2):c.1325-91C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242982	NM_018192.4(P3H2):c.1325-224G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218513	NM_018192.4(P3H2):c.1279A>G (p.Met427Val)	P3H2 (M246V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1248726	NM_018192.4(P3H2):c.1230-39C>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253412	NM_018192.4(P3H2):c.1229+218_1229+221del	P3H2	Deletion (intron variant)	not provided	GBenign
Select item 1276824	NM_018192.4(P3H2):c.1229+139A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206742	NM_018192.4(P3H2):c.1229+50G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204004	NM_018192.4(P3H2):c.1229+40G>T	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170223	NM_018192.4(P3H2):c.1189-17del	P3H2	Deletion (intron variant)	Myopia, high, with cataract and vitreoretinal degeneration +1 more	GBenign
Select item 1167310	NM_018192.4(P3H2):c.1189-18_1189-17del	P3H2	Deletion (intron variant)	not provided	GBenign
Select item 1232836	NM_018192.4(P3H2):c.1189-204T>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1190466	NM_018192.4(P3H2):c.1188+268G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207912	NM_018192.4(P3H2):c.1188+237A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222865	NM_018192.4(P3H2):c.1098+300G>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254998	NM_018192.4(P3H2):c.1098+288T>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191216	NM_018192.4(P3H2):c.1098+216G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286986	NM_018192.4(P3H2):c.1098+205dup	P3H2	Duplication (intron variant)	not provided	GBenign
Select item 1223817	NM_018192.4(P3H2):c.1098+29dup	P3H2	Duplication (intron variant)	not provided	GLikely benign
Select item 1262428	NM_018192.4(P3H2):c.1098+46_1098+47del	P3H2	Deletion (intron variant)	not provided	GBenign
Select item 1232611	NM_018192.4(P3H2):c.1098+47del	P3H2	Deletion (intron variant)	not provided	GBenign
Select item 1224889	NM_018192.4(P3H2):c.1098+28C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767944	NM_018192.4(P3H2):c.972A>G (p.Lys324=)	P3H2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1267455	NM_018192.4(P3H2):c.956-84T>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277111	NM_018192.4(P3H2):c.955+35G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284204	NM_018192.4(P3H2):c.824-281A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175559	NM_018192.4(P3H2):c.824-284G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266260	NM_018192.4(P3H2):c.823+272A>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677218	NM_018192.4(P3H2):c.696C>T (p.His232=)	P3H2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1196186	NM_018192.4(P3H2):c.634-19_634-17del	P3H2	Deletion (intron variant)	not provided	GLikely benign
Select item 1164953	NM_018192.4(P3H2):c.634-17C>T	P3H2	Single nucleotide variant (intron variant)	Myopia, high, with cataract and vitreoretinal degeneration +1 more	GBenign
Select item 1168224	NM_018192.4(P3H2):c.634-18C>T	P3H2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221246	NM_018192.4(P3H2):c.634-50GTTT[8]	P3H2	Microsatellite (intron variant)	not provided	GBenign
Select item 1275137	NM_018192.4(P3H2):c.634-50G>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220632	NM_018192.4(P3H2):c.633+277G>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274292	NM_018192.4(P3H2):c.633+276T>C	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767945	NM_018192.4(P3H2):c.612C>T (p.Asp204=)	P3H2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 677171	NM_018192.4(P3H2):c.507A>G (p.Glu169=)	P3H2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 785076	NM_018192.4(P3H2):c.481-9dup	P3H2	Duplication (intron variant)	not provided	GBenign/Likely benign
Select item 1270669	NM_018192.4(P3H2):c.481-80_481-69del	P3H2	Deletion (intron variant)	not provided	GBenign
Select item 1279560	NM_018192.4(P3H2):c.481-115_481-114insAAC	P3H2	Insertion (intron variant)	not provided	GBenign
Select item 1221833	NM_018192.4(P3H2):c.481-128dup	P3H2	Duplication (intron variant)	not provided	GBenign
Select item 1242531	NM_018192.4(P3H2):c.481-257T>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279401	NM_018192.4(P3H2):c.481-299A>G	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 145885	GRCh38/hg38 3q28(chr3:190075909-190254725)x1	LOC123464484, LOC126806907 +6 more	Copy number loss	See cases	GLikely benign
Select item 1706840	NM_018192.4(P3H2):c.480+156A>C	P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264855	NM_018192.4(P3H2):c.480+48C>T	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282907	NM_018192.4(P3H2):c.480+23C>A	P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1164788	NM_018192.4(P3H2):c.379C>T (p.Arg127Cys)	P3H2 (R127C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1165195	NM_018192.4(P3H2):c.313G>A (p.Ala105Thr)	LOC129938149, P3H2 (A105T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1217208	NM_018192.3(P3H2):c.-187G>A	LOC123464484, P3H2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198734	NM_001134418.2(P3H2):c.-64+1049G>C	P3H2-AS1, LOC129938150 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228781	NM_001134418.2(P3H2):c.-64+872G>A	P3H2-AS1, P3H2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287584	NM_001134418.2(P3H2):c.-64+863del	P3H2, P3H2-AS1	Deletion (intron variant)	not provided	GBenign
Select item 253655	GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1	GMNC, UTS2B +28 more	Copy number loss	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 93