27068[geneid] - 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 1985955	NM_176869.3(PPA2):c.998G>T (p.Gly333Val)	PPA2 (G167V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994275	NM_176869.3(PPA2):c.993C>G (p.Phe331Leu)	PPA2 (F229L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508150	NM_176869.3(PPA2):c.992T>G (p.Phe331Cys)	PPA2 (F302C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2038918	NM_176869.3(PPA2):c.982G>C (p.Val328Leu)	PPA2 (V299L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102229	NM_176869.3(PPA2):c.978G>A (p.Glu326=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1628553	NM_176869.3(PPA2):c.977-15C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1996391	NM_176869.3(PPA2):c.977-16C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116725	NM_176869.3(PPA2):c.977-18T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2994278	NM_176869.3(PPA2):c.976+14del	PPA2	Deletion (intron variant)	not provided	GBenign
Select item 2102497	NM_176869.3(PPA2):c.976+14T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779571	NM_176869.3(PPA2):c.976+9T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957103	NM_176869.3(PPA2):c.976+8A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1483129	NM_176869.3(PPA2):c.976+3A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1436410	NM_176869.3(PPA2):c.962_965del (p.Glu321fs)	PPA2 (E155fs +3 more)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2097047	NM_176869.3(PPA2):c.960A>T (p.Lys320Asn)	PPA2 (K291N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1416377	NM_176869.3(PPA2):c.957T>G (p.Asn319Lys)	PPA2 (N153K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502152	NM_176869.3(PPA2):c.955A>T (p.Asn319Tyr)	PPA2 (N319Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394249	NM_176869.3(PPA2):c.950C>T (p.Ser317Leu)	PPA2 (S215L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113780	NM_176869.3(PPA2):c.945A>G (p.Ser315=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753787	NM_176869.3(PPA2):c.945A>T (p.Ser315=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1479416	NM_176869.3(PPA2):c.940G>A (p.Val314Ile)	PPA2 (V148I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791456	NM_176869.3(PPA2):c.940-4C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979984	NM_176869.3(PPA2):c.940-5T>C	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2112629	NM_176869.3(PPA2):c.940-20_940-17del	PPA2	Microsatellite (intron 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 2127057	NM_176869.3(PPA2):c.939+18A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209474	NM_176869.3(PPA2):c.939+17C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2031476	NM_176869.3(PPA2):c.939+7G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1335561	NM_176869.3(PPA2):c.939+2T>C	PPA2	Single nucleotide variant (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1496435	NM_176869.3(PPA2):c.938C>T (p.Ser313Leu)	PPA2 (S211L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620292	NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)	PPA2 (S313* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1374475	NM_176869.3(PPA2):c.931G>A (p.Val311Ile)	PPA2 (V282I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788805	NM_176869.3(PPA2):c.912A>G (p.Gln304=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959645	NM_176869.3(PPA2):c.910C>T (p.Gln304Ter)	PPA2 (Q202* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3007778	NM_176869.3(PPA2):c.909T>C (p.Thr303=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905345	NM_176869.3(PPA2):c.902G>A (p.Arg301His)	PPA2 (R199H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3010658	NM_176869.3(PPA2):c.900C>T (p.Phe300=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947169	NM_176869.3(PPA2):c.894C>T (p.Ser298=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1478155	NM_176869.3(PPA2):c.891T>G (p.Asp297Glu)	PPA2 (D195E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941542	NM_176869.3(PPA2):c.881A>G (p.Gln294Arg)	PPA2 (Q294R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372221	NM_176869.3(PPA2):c.881A>C (p.Gln294Pro)	PPA2 (Q294P +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, infantile	GPathogenic
Select item 2190207	NM_176869.3(PPA2):c.877G>A (p.Val293Met)	PPA2 (V191M +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2890037	NM_176869.3(PPA2):c.876C>T (p.Asn292=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1403900	NM_176869.3(PPA2):c.872C>A (p.Thr291Lys)	PPA2 (T189K +3 more)	Single nucleotide variant (missense variant)	mitochondrial cardiomyopathy and sudden cardiac failure +1 more	GUncertain significance
Select item 1445346	NM_176869.3(PPA2):c.871A>T (p.Thr291Ser)	PPA2 (T262S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3309070	NM_176869.3(PPA2):c.870C>T (p.Cys290=)	PPA2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2785076	NM_176869.3(PPA2):c.870-11T>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958696	NM_176869.3(PPA2):c.870-14C>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942479	NM_176869.3(PPA2):c.870-14C>A	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1563044	NM_176869.3(PPA2):c.870-20C>T	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely 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 1327437	NM_176869.3(PPA2):c.869+35_869+36insTTTAT	PPA2	Insertion (intron variant)	Sudden cardiac failure, infantile	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 2982695	NM_176869.3(PPA2):c.869+20A>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1356231	NM_176869.3(PPA2):c.869+5G>T	PPA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1367281	NM_176869.3(PPA2):c.869+4A>T	PPA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2128343	NM_176869.3(PPA2):c.869+1G>C	PPA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 1447011	NM_176869.3(PPA2):c.862A>G (p.Ile288Val)	PPA2 (I186V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357861	NM_176869.3(PPA2):c.847T>C (p.Cys283Arg)	PPA2 (C181R +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 1492334	NM_176869.3(PPA2):c.838A>G (p.Met280Val)	PPA2 (M114V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1542650	NM_176869.3(PPA2):c.837T>C (p.Leu279=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1048581	NM_176869.3(PPA2):c.833T>C (p.Leu278Ser)	PPA2 (L112S +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, alcohol-induced +1 more	GUncertain significance
Select item 2039699	NM_176869.3(PPA2):c.825G>A (p.Trp275Ter)	PPA2 (W173* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1962646	NM_176869.3(PPA2):c.824G>C (p.Trp275Ser)	PPA2 (W109S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006836	NM_176869.3(PPA2):c.816T>C (p.His272=)	PPA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2149791	NM_176869.3(PPA2):c.814C>T (p.His272Tyr)	PPA2 (H243Y +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, infantile +2 more	GConflicting classifications of pathogenicity
Select item 2241162	NM_176869.3(PPA2):c.799G>A (p.Val267Ile)	PPA2 (V267I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1478814	NM_176869.3(PPA2):c.796G>C (p.Glu266Gln)	PPA2 (E164Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699311	NM_176869.3(PPA2):c.791C>T (p.Ala264Val)	PPA2 (A162V +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, infantile	GUncertain significance
Select item 1463601	NM_176869.3(PPA2):c.785C>T (p.Ala262Val)	PPA2 (A233V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1548169	NM_176869.3(PPA2):c.784-5G>A	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174246	NM_176869.3(PPA2):c.784-19TTTG[2]	PPA2	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1628887	NM_176869.3(PPA2):c.784-20_784-16del	PPA2	Deletion (intron variant)	not provided	GLikely benign
Select item 1188409	NM_176869.3(PPA2):c.783+76T>G	PPA2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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