28763[HGNC] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 1247186	NC_000012.12:g.132710735G>T	LOC130009268, PGAM5	Single nucleotide variant	not provided	GBenign
Select item 1290417	NC_000012.12:g.132710832T>C	LOC130009268, PGAM5	Single nucleotide variant	not provided	GBenign
Select item 1285675	NM_001170543.2(PGAM5):c.-4C>T	LOC130009268, PGAM5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2405138	NM_001170543.2(PGAM5):c.4G>T (p.Ala2Ser)	LOC130009268, PGAM5 (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345596	NM_001170543.2(PGAM5):c.17C>T (p.Ala6Val)	LOC130009268, PGAM5 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211633	NM_001170543.2(PGAM5):c.61G>A (p.Val21Met)	LOC130009268, PGAM5 (V21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204065	NM_001170543.2(PGAM5):c.61G>C (p.Val21Leu)	LOC130009268, PGAM5 (V21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211634	NM_001170543.2(PGAM5):c.80C>G (p.Ala27Gly)	LOC130009268, PGAM5 (A27G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242946	NM_001170543.2(PGAM5):c.94C>T (p.Arg32Cys)	LOC130009268, PGAM5 (R32C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380612	NM_001170543.2(PGAM5):c.158C>T (p.Pro53Leu)	LOC130009268, PGAM5 (P53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309665	NM_001170543.2(PGAM5):c.164C>G (p.Pro55Arg)	PGAM5 (P55R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1277855	NM_001170543.2(PGAM5):c.191+68A>G	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227185	NM_001170543.2(PGAM5):c.191+177G>A	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255053	NM_001170543.2(PGAM5):c.191+254C>T	LOC130009269, PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2254989	NM_001170543.2(PGAM5):c.197A>G (p.Glu66Gly)	PGAM5 (E66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613406	NM_001170543.2(PGAM5):c.215A>G (p.Asn72Ser)	PGAM5 (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407229	NM_001170543.2(PGAM5):c.220C>T (p.Arg74Trp)	PGAM5 (R74W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605560	NM_001170543.2(PGAM5):c.230A>G (p.Asn77Ser)	PGAM5 (N77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209358	NM_001170543.2(PGAM5):c.268G>C (p.Asp90His)	PGAM5 (D90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607787	NM_001170543.2(PGAM5):c.272A>G (p.His91Arg)	PGAM5 (H91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609501	NM_001170543.2(PGAM5):c.338C>T (p.Ser113Phe)	PGAM5 (S113F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378477	NM_001170543.2(PGAM5):c.352C>T (p.Arg118Cys)	PGAM5 (R118C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227005	NM_001170543.2(PGAM5):c.370+59_370+60insCTC	PGAM5	Insertion (intron variant)	not provided	GBenign
Select item 1275354	NM_001170543.2(PGAM5):c.370+257G>A	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281009	NM_001170543.2(PGAM5):c.371-297G>C	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236721	NM_001170543.2(PGAM5):c.371-140C>A	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2284950	NM_001170543.2(PGAM5):c.421A>C (p.Lys141Gln)	PGAM5 (K141Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516018	NM_001170543.2(PGAM5):c.452C>T (p.Thr151Met)	PGAM5 (T151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211632	NM_001170543.2(PGAM5):c.482G>A (p.Ser161Asn)	PGAM5 (S161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1282010	NM_001170543.2(PGAM5):c.497-65G>T	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251799	NM_001170543.2(PGAM5):c.534C>T (p.Gly178=)	PGAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1229848	NM_001170543.2(PGAM5):c.572A>G (p.Lys191Arg)	PGAM5 (K191R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 713355	NM_001170543.2(PGAM5):c.594C>T (p.Tyr198=)	PGAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2247377	NM_001170543.2(PGAM5):c.637C>T (p.His213Tyr)	PGAM5 (H212Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713253	NM_001170543.2(PGAM5):c.642C>T (p.Arg214=)	PGAM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385630	NM_001170543.2(PGAM5):c.668G>C (p.Ser223Thr)	PGAM5 (S222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781096	NM_001170543.2(PGAM5):c.675G>A (p.Glu225=)	PGAM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2592140	NM_001170543.2(PGAM5):c.681C>A (p.Phe227Leu)	PGAM5 (F226L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1272266	NM_001170543.2(PGAM5):c.719+22C>T	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258063	NM_001170543.2(PGAM5):c.719+63A>G	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237636	NM_001170543.2(PGAM5):c.719+516_719+517insT	PGAM5	Insertion (intron variant)	not provided	GBenign
Select item 1290811	NM_001170543.2(PGAM5):c.719+647C>T	PGAM5 (P242L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1180285	NM_001170543.2(PGAM5):c.719+676C>G	PGAM5 (L252V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1240664	NM_001170543.2(PGAM5):c.719+795T>C	PGAM5	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1291784	NM_001170543.2(PGAM5):c.720-226T>C	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295127	NM_001170543.2(PGAM5):c.720-209A>G	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290140	NM_001170543.2(PGAM5):c.720-161T>C	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256786	NM_001170543.2(PGAM5):c.720-93T>C	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253573	NM_001170543.2(PGAM5):c.720-82A>G	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289201	NM_001170543.2(PGAM5):c.720-67C>T	PGAM5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2285399	NM_001170543.2(PGAM5):c.831C>A (p.Asp277Glu)	PGAM5 (D277E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256899	NM_001170543.2(PGAM5):c.*261T>C	PGAM5	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3244416	NC_000012.11:g.(?_133248873)_(133501664_?)del	GOLGA3, PGAM5 +5 more	Deletion	not provided	GPathogenic
Select item 2684689	GRCh37/hg19 12q24.33(chr12:133187938-133383618)x3	ANKLE2, GOLGA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1808265	GRCh37/hg19 12q24.33(chr12:133228857-133455925)x3	ANKLE2, CHFR +4 more	Copy number gain	not provided	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +8 more	Deletion	not provided	GPathogenic
Select item 1341278	GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 981004	GRCh37/hg19 12q24.33(chr12:133155089-133455925)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	GUncertain significance
Select item 815565	GRCh37/hg19 12q24.33(chr12:133095871-133402932)x3	PGAM5, POLE +6 more	Copy number gain	not provided	GUncertain significance
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 686528	GRCh37/hg19 12q24.33(chr12:133197109-133295252)x3	P2RX2, PGAM5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686464	GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1	ANKLE2, CHFR +15 more	Copy number loss	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 443093	GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1	ANKLE2, CHFR +8 more	Copy number loss	See cases	GUncertain significance
Select item 442500	GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3	ANKLE2, CHFR +15 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441587	GRCh37/hg19 12q24.33(chr12:133187937-133497679)x1	ANKLE2, CHFR +5 more	Copy number loss	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253828	GRCh37/hg19 12q24.33(chr12:133091631-133393167)x3	LRCOL1, GOLGA3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 226225	GRCh37/hg19 12q24.33(chr12:133199968-133337730)	PXMP2, PGAM5 +2 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 86