"GeneDx"[submitter] AND "P4HB"[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 1178163	NM_000918.4(P4HB):c.*217A>C	P4HB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1269426	NM_000918.4(P4HB):c.1447-9G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272512	NM_000918.4(P4HB):c.1447-87C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232850	NM_000918.4(P4HB):c.1447-161_1447-160del	P4HB	Deletion (intron variant)	not provided	GBenign
Select item 1203912	NM_000918.4(P4HB):c.1447-163C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214680	NM_000918.4(P4HB):c.1447-303G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205114	NM_000918.4(P4HB):c.1446+76C>G	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226339	NM_000918.4(P4HB):c.1446+70T>G	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733895	NM_000918.4(P4HB):c.1374C>T (p.Asn458=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1261993	NM_000918.4(P4HB):c.1365T>C (p.Ile455=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1242747	NM_000918.4(P4HB):c.1359+4C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291647	NM_000918.4(P4HB):c.1302C>T (p.Ala434=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2136164	NM_000918.4(P4HB):c.1214C>T (p.Pro405Leu)	P4HB (P405L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443500	NM_000918.4(P4HB):c.1160del (p.Asn387fs)	P4HB (N387fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1253925	NM_000918.4(P4HB):c.1057-122C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255033	NM_000918.4(P4HB):c.1033C>G (p.Arg345Gly)	P4HB (R345G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1312899	NM_000918.4(P4HB):c.992C>T (p.Ser331Leu)	P4HB (S331L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1217495	NM_000918.4(P4HB):c.855+108G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273968	NM_000918.4(P4HB):c.855+102T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264780	NM_000918.4(P4HB):c.730-55T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230651	NM_000918.4(P4HB):c.730-65A>G	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227569	NM_000918.4(P4HB):c.714C>T (p.Ile238=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1307398	NM_000918.4(P4HB):c.709G>A (p.Val237Ile)	P4HB (V237I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 740293	NM_000918.4(P4HB):c.693C>T (p.His231=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363814	NM_000918.4(P4HB):c.685A>G (p.Ile229Val)	P4HB (I229V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259424	NM_000918.4(P4HB):c.625-146T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278963	NM_000918.4(P4HB):c.624+308_624+309insAGAC	P4HB	Insertion (intron variant)	not provided	GBenign
Select item 1281915	NM_000918.4(P4HB):c.624+243dup	P4HB	Duplication (intron variant)	not provided	GBenign
Select item 1219483	NM_000918.4(P4HB):c.624+245_624+246insC	P4HB	Insertion (intron variant)	not provided	GLikely benign
Select item 1247633	NM_000918.4(P4HB):c.624+190T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240749	NM_000918.4(P4HB):c.624+143G>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217951	NM_000918.4(P4HB):c.624+118T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237675	NM_000918.4(P4HB):c.624+94C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1597142	NM_000918.4(P4HB):c.616T>G (p.Phe206Val)	P4HB (F206V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1211808	NM_000918.4(P4HB):c.487-73G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274954	NM_000918.4(P4HB):c.486+25T>C	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233512	NM_000918.4(P4HB):c.404C>T (p.Pro135Leu)	P4HB (P135L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1801181	NM_000918.4(P4HB):c.362A>G (p.Glu121Gly)	P4HB (E121G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1186192	NM_000918.4(P4HB):c.353-60C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269660	NM_000918.4(P4HB):c.353-312G>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278758	NM_000918.4(P4HB):c.352+131G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231557	NM_000918.4(P4HB):c.352+52C>T	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3373075	NM_000918.4(P4HB):c.337C>A (p.Pro113Thr)	P4HB (P113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717520	NM_000918.4(P4HB):c.303C>T (p.Thr101=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 716235	NM_000918.4(P4HB):c.281A>G (p.Tyr94Cys)	P4HB (Y94C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1220558	NM_000918.4(P4HB):c.146-61G>A	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296622	NM_000918.4(P4HB):c.145+151A>C	LOC130061970, P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193831	NM_000918.4(P4HB):c.145+143G>A	LOC130061970, P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214907	NM_000918.4(P4HB):c.145+73C>A	P4HB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226802	NM_000918.4(P4HB):c.145+44A>G	P4HB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263782	NM_000918.4(P4HB):c.88C>A (p.Arg30=)	P4HB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1197058	NM_000918.4(P4HB):c.14C>T (p.Ala5Val)	LOC130061971, P4HB (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267903	NM_000918.4(P4HB):c.-13A>C	LOC130061971, P4HB	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1185990	NC_000017.11:g.81860701C>G	P4HB	Single nucleotide variant	not provided	GLikely benign
Select item 1209355	NC_000017.11:g.81860728T>A	P4HB	Single nucleotide variant	not provided	GLikely benign
Select item 1189635	NC_000017.11:g.81860851G>T	P4HB	Single nucleotide variant	not provided	GLikely benign
Select item 1288408	NC_000017.11:g.81860900A>G	P4HB	Single nucleotide variant	not provided	GBenign

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Items: 58