"GeneDx"[submitter] AND "PPA2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 1213559	NM_176869.3(PPA2):c.*270dup	PPA2	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 1182538	NM_176869.3(PPA2):c.*262A>G	PPA2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1194162	NM_176869.3(PPA2):c.*125C>T	PPA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1212218	NM_176869.3(PPA2):c.*82T>C	PPA2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1269365	NM_176869.3(PPA2):c.52_53insACTCTTTTTCCCCAAG	PPA2	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1375445	NM_176869.3(PPA2):c.980_983del (p.Gln327fs)	PPA2 (Q298fs +3 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1177827	NM_176869.3(PPA2):c.976+315del	PPA2	Deletion (intron variant)	not provided	GBenign
Select item 1289288	NM_176869.3(PPA2):c.976+312A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277752	NM_176869.3(PPA2):c.976+246del	PPA2	Deletion (intron variant)	not provided	GBenign
Select item 1296656	NM_176869.3(PPA2):c.976+232G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197325	NM_176869.3(PPA2):c.976+231C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246086	NM_176869.3(PPA2):c.976+170C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 753787	NM_176869.3(PPA2):c.945A>T (p.Ser315=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1245821	NM_176869.3(PPA2):c.940-79C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250896	NM_176869.3(PPA2):c.940-91C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242952	NM_176869.3(PPA2):c.940-193dup	PPA2	Duplication (intron variant)	not provided	GBenign
Select item 1252142	NM_176869.3(PPA2):c.940-278C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177713	NM_176869.3(PPA2):c.940-319A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183007	NM_176869.3(PPA2):c.939+291C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259454	NM_176869.3(PPA2):c.939+286A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215791	NM_176869.3(PPA2):c.939+183T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233195	NM_176869.3(PPA2):c.939+156A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209474	NM_176869.3(PPA2):c.939+17C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 620292	NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)	PPA2 (S313* +3 more)	Single nucleotide variant (nonsense)	Sudden cardiac failure, alcohol-induced +2 more	GConflicting classifications of pathogenicity
Select item 799090	NM_176869.3(PPA2):c.901C>T (p.Arg301Cys)	PPA2 (R272C +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1209413	NM_176869.3(PPA2):c.870-255G>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267057	NM_176869.3(PPA2):c.869+290G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226642	NM_176869.3(PPA2):c.869+35_869+36insTTATT	PPA2	Insertion (intron variant)	not provided	GBenign
Select item 1193564	NM_176869.3(PPA2):c.869+21T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315541	NM_176869.3(PPA2):c.869G>C (p.Cys290Ser)	PPA2 (C124S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1270616	NM_176869.3(PPA2):c.846G>C (p.Lys282Asn)	PPA2 (K116N +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, infantile +1 more	GBenign
Select item 1174246	NM_176869.3(PPA2):c.784-19TTTG[2]	PPA2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1188409	NM_176869.3(PPA2):c.783+76T>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204907	NM_176869.3(PPA2):c.783+39A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3369810	NM_176869.3(PPA2):c.742C>T (p.Pro248Ser)	PPA2 (P146S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787274	NM_176869.3(PPA2):c.727G>T (p.Val243Leu)	PPA2 (V77L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 372226	NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)	PPA2 (P228L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1198458	NM_176869.3(PPA2):c.656-68A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223934	NM_176869.3(PPA2):c.656-78C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249871	NM_176869.3(PPA2):c.656-125C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239721	NM_176869.3(PPA2):c.656-146A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183233	NM_176869.3(PPA2):c.656-211A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296649	NM_176869.3(PPA2):c.656-268C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234079	NM_176869.3(PPA2):c.656-328A>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294085	NM_176869.3(PPA2):c.655+228T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191131	NM_176869.3(PPA2):c.529-159C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276382	NM_176869.3(PPA2):c.529-170_529-165del	PPA2	Deletion (intron variant)	not provided	GBenign
Select item 1208820	NM_176869.3(PPA2):c.529-335A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024548	NM_176869.3(PPA2):c.528+5_528+8del	PPA2	Microsatellite (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 1315539	NM_176869.3(PPA2):c.528+1G>T	PPA2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3343864	NM_176869.3(PPA2):c.524C>G (p.Ser175Ter)	PPA2 (S175*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 372222	NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	PPA2 (E172K)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile +2 more	GPathogenic/Likely pathogenic
Select item 773156	NM_176869.3(PPA2):c.513C>T (p.Cys171=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1272569	NM_176869.3(PPA2):c.477G>A (p.Thr159=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1048576	NM_176869.3(PPA2):c.476C>T (p.Thr159Met)	PPA2 (T159M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1198766	NM_176869.3(PPA2):c.442-35T>A	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186185	NM_176869.3(PPA2):c.442-199G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286391	NM_176869.3(PPA2):c.442-200T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191397	NM_176869.3(PPA2):c.442-249C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216550	NM_176869.3(PPA2):c.441+249dup	PPA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1235118	NM_176869.3(PPA2):c.441+259del	PPA2	Deletion (intron variant)	not provided	GBenign
Select item 1276433	NM_176869.3(PPA2):c.441+179A>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189990	NM_176869.3(PPA2):c.441+5C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 372225	NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	PPA2 (R127L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1189243	NM_176869.3(PPA2):c.379C>T (p.Arg127Cys)	PPA2 (R127C)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1315534	NM_176869.3(PPA2):c.371G>A (p.Gly124Glu)	PPA2 (G124E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1048573	NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)	PPA2 (P116S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 772870	NM_176869.3(PPA2):c.322-3T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260986	NM_176869.3(PPA2):c.322-37A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239457	NM_176869.3(PPA2):c.322-138C>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206851	NM_176869.3(PPA2):c.321+281dup	PPA2	Duplication (intron variant)	not provided	GLikely benign
Select item 1296653	NM_176869.3(PPA2):c.321+249A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315555	NM_176869.3(PPA2):c.299G>A (p.Arg100Gln)	PPA2 (R100Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315554	NM_176869.3(PPA2):c.298C>T (p.Arg100Trp)	PPA2 (R100W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1282167	NM_176869.3(PPA2):c.268-19G>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280912	NM_176869.3(PPA2):c.268-79T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281274	NM_176869.3(PPA2):c.268-256T>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182076	NM_176869.3(PPA2):c.268-314T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237577	NM_176869.3(PPA2):c.267+177_267+178insG	PPA2	Insertion (intron variant)	not provided	GBenign
Select item 1238711	NM_176869.3(PPA2):c.267+177A>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199086	NM_176869.3(PPA2):c.251G>A (p.Arg84Gln)	PPA2 (R84Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1279721	NM_176869.3(PPA2):c.222+184A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193442	NM_176869.3(PPA2):c.222+159A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780932	NM_176869.3(PPA2):c.222+4T>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1315556	NM_176869.3(PPA2):c.184C>T (p.Pro62Ser)	PPA2 (P62S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782247	NM_176869.3(PPA2):c.180T>C (p.Ile60=)	PPA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1291844	NM_176869.3(PPA2):c.158-100C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232914	NM_176869.3(PPA2):c.158-125G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201795	NM_176869.3(PPA2):c.157+317C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207835	NM_176869.3(PPA2):c.157+261C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269911	NM_176869.3(PPA2):c.157+259G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281928	NM_176869.3(PPA2):c.157+125C>T	LOC129992914, PPA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191234	NM_176869.3(PPA2):c.157+113C>T	LOC129992914, PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315538	NM_176869.3(PPA2):c.134C>T (p.Ser45Leu)	PPA2 (S45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 684533	NM_176869.3(PPA2):c.64A>G (p.Thr22Ala)	PPA2 (T22A)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1196341	NM_176869.3(PPA2):c.52_53inv (p.Leu18Arg)	PPA2 (L18R)	Inversion (missense variant)	not provided	GLikely benign
Select item 1235760	NM_176869.3(PPA2):c.27C>T (p.Arg9=)	PPA2	Single nucleotide variant (synonymous variant)	Sudden cardiac failure, infantile +1 more	GBenign
Select item 1193147	NM_176869.3(PPA2):c.25_27delinsTGT (p.Arg9Cys)	PPA2 (R9C)	Indel (missense variant)	not provided	GUncertain significance
Select item 752837	NM_176869.3(PPA2):c.6C>T (p.Ser2=)	LOC129992915, PPA2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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