ClinVar for Gene (Select 146325) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310490	NM_145270.3(PRR35):c.292C>T (p.Pro98Ser)	PRR35 (P98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310489	NM_145270.3(PRR35):c.1171C>G (p.Leu391Val)	PRR35 (L391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310488	NM_145270.3(PRR35):c.914C>T (p.Pro305Leu)	PRR35 (P305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310487	NM_145270.3(PRR35):c.734C>T (p.Pro245Leu)	PRR35 (P245L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310486	NM_145270.3(PRR35):c.275G>A (p.Arg92His)	PRR35 (R92H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3219506	NM_145270.3(PRR35):c.979G>C (p.Glu327Gln)	PRR35 (E327Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219505	NM_145270.3(PRR35):c.964C>G (p.Gln322Glu)	PRR35 (Q322E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219504	NM_145270.3(PRR35):c.929G>A (p.Gly310Glu)	PRR35 (G310E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219503	NM_145270.3(PRR35):c.818C>T (p.Thr273Ile)	PRR35 (T273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219502	NM_145270.3(PRR35):c.787C>T (p.Arg263Cys)	PRR35 (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219501	NM_145270.3(PRR35):c.641C>T (p.Pro214Leu)	PRR35 (P214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219500	NM_145270.3(PRR35):c.389C>T (p.Pro130Leu)	PRR35 (P130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219499	NM_145270.3(PRR35):c.338C>T (p.Ala113Val)	PRR35 (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219498	NM_145270.3(PRR35):c.319C>T (p.Pro107Ser)	PRR35 (P107S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219496	NM_145270.3(PRR35):c.1652C>T (p.Thr551Met)	PRR35 (T551M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219495	NM_145270.3(PRR35):c.1652C>G (p.Thr551Arg)	PRR35 (T551R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219494	NM_145270.3(PRR35):c.1649C>T (p.Ala550Val)	PRR35 (A550V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219493	NM_145270.3(PRR35):c.1538C>T (p.Ser513Phe)	PRR35 (S513F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219491	NM_145270.3(PRR35):c.1462G>A (p.Glu488Lys)	PRR35 (E488K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219490	NM_145270.3(PRR35):c.1448C>T (p.Ala483Val)	PRR35 (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219489	NM_145270.3(PRR35):c.1372G>C (p.Val458Leu)	PRR35 (V458L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219488	NM_145270.3(PRR35):c.1349T>A (p.Ile450Asn)	PRR35 (I450N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219487	NM_145270.3(PRR35):c.1310G>A (p.Arg437Gln)	PRR35 (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219485	NM_145270.3(PRR35):c.1246G>A (p.Ala416Thr)	PRR35 (A416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219484	NM_145270.3(PRR35):c.1123G>C (p.Gly375Arg)	PRR35 (G375R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3219483	NM_145270.3(PRR35):c.1085T>C (p.Leu362Pro)	PRR35 (L362P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219482	NM_145270.3(PRR35):c.1065G>T (p.Arg355Ser)	PRR35 (R355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219481	NM_145270.3(PRR35):c.1040C>T (p.Pro347Leu)	PRR35 (P347L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219480	NM_145270.3(PRR35):c.1004G>A (p.Arg335Lys)	PRR35 (R335K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2616456	NM_145270.3(PRR35):c.1322G>A (p.Gly441Asp)	PRR35 (G441D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612290	NM_145270.3(PRR35):c.10G>A (p.Glu4Lys)	PRR35 (E4K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597153	NM_145270.3(PRR35):c.896C>T (p.Pro299Leu)	PRR35 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569249	NM_145270.3(PRR35):c.587G>A (p.Gly196Glu)	PRR35 (G196E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514261	NM_145270.3(PRR35):c.49C>T (p.Arg17Trp)	PRR35 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509107	NM_145270.3(PRR35):c.1283C>T (p.Ala428Val)	PRR35 (A428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508467	NM_145270.3(PRR35):c.56G>A (p.Arg19Gln)	PRR35 (R19Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490013	NM_145270.3(PRR35):c.337G>A (p.Ala113Thr)	PRR35 (A113T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2484000	NM_145270.3(PRR35):c.245C>G (p.Thr82Arg)	PRR35 (T82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476951	NM_145270.3(PRR35):c.61C>T (p.Pro21Ser)	PRR35 (P21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467609	NM_145270.3(PRR35):c.1592C>T (p.Pro531Leu)	PRR35 (P531L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460182	NM_145270.3(PRR35):c.295G>A (p.Gly99Ser)	PRR35 (G99S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458807	NM_145270.3(PRR35):c.1472C>T (p.Pro491Leu)	PRR35 (P491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance
Select item 2402006	NM_145270.3(PRR35):c.1321G>T (p.Gly441Cys)	PRR35 (G441C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399512	NM_145270.3(PRR35):c.913C>G (p.Pro305Ala)	PRR35 (P305A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398262	NM_145270.3(PRR35):c.445C>T (p.Arg149Trp)	PRR35 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397942	NM_145270.3(PRR35):c.1412G>A (p.Arg471His)	PRR35 (R471H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394372	NM_145270.3(PRR35):c.581C>T (p.Ala194Val)	PRR35 (A194V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391089	NM_145270.3(PRR35):c.1516C>T (p.Pro506Ser)	PRR35 (P506S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388395	NM_145270.3(PRR35):c.382G>A (p.Gly128Arg)	PRR35 (G128R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383918	NM_145270.3(PRR35):c.7C>T (p.Arg3Trp)	PRR35 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379397	NM_145270.3(PRR35):c.1648G>C (p.Ala550Pro)	PRR35 (A550P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378479	NM_145270.3(PRR35):c.245C>T (p.Thr82Met)	PRR35 (T82M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376518	NM_145270.3(PRR35):c.953G>A (p.Arg318Lys)	PRR35 (R318K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374316	NM_145270.3(PRR35):c.1411C>T (p.Arg471Cys)	PRR35 (R471C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373183	NM_145270.3(PRR35):c.317G>A (p.Arg106Gln)	PRR35 (R106Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348799	NM_145270.3(PRR35):c.452G>A (p.Gly151Asp)	PRR35 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340596	NM_145270.3(PRR35):c.1595T>C (p.Leu532Pro)	PRR35 (L532P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303082	NM_145270.3(PRR35):c.1530A>C (p.Gln510His)	PRR35 (Q510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259078	NM_145270.3(PRR35):c.226T>C (p.Cys76Arg)	PRR35 (C76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257498	NM_145270.3(PRR35):c.517G>A (p.Val173Met)	PRR35 (V173M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245536	NM_145270.3(PRR35):c.665A>G (p.Tyr222Cys)	PRR35 (Y222C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233871	NM_145270.3(PRR35):c.229C>T (p.Arg77Cys)	PRR35 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217132	NM_145270.3(PRR35):c.685G>A (p.Ala229Thr)	PRR35 (A229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215409	NM_145270.3(PRR35):c.890C>T (p.Pro297Leu)	PRR35 (P297L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2205964	NM_145270.3(PRR35):c.853A>G (p.Lys285Glu)	PRR35 (K285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564255	GRCh37/hg19 16p13.3(chr16:293387-614930)x1	PGAP6, PDIA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic

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