ClinVar for Gene (Select 5078) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347932	NM_001366110.1(PAX4):c.182A>C (p.Tyr61Ser)	PAX4 (Y61S)	Single nucleotide variant (missense variant)	PAX4-related disorder	GUncertain significance
Select item 3304470	NM_001366110.1(PAX4):c.104T>A (p.Val35Asp)	PAX4 (V35D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304469	NM_001366110.1(PAX4):c.835T>C (p.Tyr279His)	PAX4 (Y279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257681	NM_001366110.1(PAX4):c.58C>T (p.Arg20Trp)	PAX4 (R20W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245898	NC_000007.13:g.(?_127251118)_(127255574_?)del	PAX4	Deletion	not provided	GUncertain significance
Select item 3239431	NM_001366110.1(PAX4):c.982T>C (p.Cys328Arg)	PAX4 (C328R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3208979	NM_001366110.1(PAX4):c.379G>A (p.Val127Ile)	PAX4 (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208978	NM_001366110.1(PAX4):c.1040T>C (p.Leu347Pro)	PAX4 (L347P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3061473	NM_001366110.1(PAX4):c.13+9C>T	PAX4	Single nucleotide variant (intron variant)	PAX4-related disorder	GLikely benign
Select item 3052553	NM_001366110.1(PAX4):c.13G>A (p.Gly5Arg)	PAX4 (G5R)	Single nucleotide variant (missense variant)	PAX4-related disorder	GLikely benign
Select item 3047875	NM_001366110.1(PAX4):c.*192C>T	PAX4 (P343S)	Single nucleotide variant (3 prime UTR variant +1 more)	PAX4-related disorder	GLikely benign
Select item 3033427	NM_001366110.1(PAX4):c.680G>A (p.Arg227Gln)	PAX4 (R227Q)	Single nucleotide variant (missense variant)	PAX4-related disorder	GBenign
Select item 3031172	NM_001366110.1(PAX4):c.*165C>T	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	PAX4-related disorder	GLikely benign
Select item 3011073	NM_001366110.1(PAX4):c.513C>T (p.His171=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006315	NM_001366110.1(PAX4):c.332G>T (p.Gly111Val)	PAX4 (G111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980581	NM_001366110.1(PAX4):c.761T>C (p.Ile254Thr)	PAX4 (I254T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970834	NM_001366110.1(PAX4):c.677G>T (p.Arg226Leu)	PAX4 (R226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967217	NM_001366110.1(PAX4):c.563-12C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908092	NM_001366110.1(PAX4):c.340A>T (p.Thr114Ser)	PAX4 (T114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871985	NM_001366110.1(PAX4):c.693C>T (p.Leu231=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2871095	NM_001366110.1(PAX4):c.242C>A (p.Thr81Lys)	PAX4 (T81K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871094	NM_001366110.1(PAX4):c.248C>G (p.Pro83Arg)	PAX4 (P83R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868010	NM_001366110.1(PAX4):c.715+15C>G	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808962	NM_001366110.1(PAX4):c.451G>C (p.Ala151Pro)	PAX4 (A151P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2673127	NM_001366110.1(PAX4):c.96G>A (p.Arg32=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636413	NM_001366110.1(PAX4):c.53A>C (p.Asn18Thr)	PAX4 (N18T)	Single nucleotide variant (missense variant)	PAX4-related disorder	GUncertain significance
Select item 2632284	NM_001366110.1(PAX4):c.14-2A>G	PAX4	Single nucleotide variant (splice acceptor variant)	PAX4-related disorder	GUncertain significance
Select item 2584566	NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)	PAX4	Deletion (inframe_deletion)	Diabetes mellitus, ketosis-prone +2 more	GUncertain significance
Select item 2580177	NM_001366110.1(PAX4):c.225C>G (p.Ser75Arg)	PAX4 (S75R)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +1 more	GUncertain significance
Select item 2577352	NM_001366110.1(PAX4):c.*196C>T	PAX4 (T344I)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2506264	NM_001366110.1(PAX4):c.772-10T>C	PAX4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2504202	NM_001366110.1(PAX4):c.144+2_144+8del	PAX4	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2502226	NM_001366110.1(PAX4):c.779dup (p.Gly261fs)	PAX4 (G261fs)	Duplication (frameshift variant)	Maturity-onset diabetes of the young type 9 +1 more	GUncertain significance
Select item 2502166	NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)	PAX4 (V152I)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +1 more	GUncertain significance
Select item 2478836	NM_001366110.1(PAX4):c.191C>T (p.Thr64Ile)	PAX4 (T64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443200	NM_001366110.1(PAX4):c.115C>G (p.Arg39Gly)	PAX4 (R39G)	Single nucleotide variant (missense variant)	PAX4-related disorder	GUncertain significance
Select item 2420898	NM_001366110.1(PAX4):c.233G>A (p.Arg78Gln)	PAX4 (R78Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2391634	NM_001366110.1(PAX4):c.406G>C (p.Gly136Arg)	PAX4 (G136R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329027	NM_001366110.1(PAX4):c.886C>T (p.Pro296Ser)	PAX4 (P296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271072	NM_001366110.1(PAX4):c.491G>A (p.Gly164Asp)	PAX4 (G164D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236365	NM_001366110.1(PAX4):c.677G>A (p.Arg226His)	PAX4 (R226H)	Single nucleotide variant (missense variant)	Diabetes mellitus, ketosis-prone +3 more	GUncertain significance
Select item 2189012	NM_001366110.1(PAX4):c.563-5C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2167862	NM_001366110.1(PAX4):c.508G>A (p.Gly170Ser)	PAX4 (G170S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111668	NM_001366110.1(PAX4):c.42G>A (p.Gly14=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065637	NM_001366110.1(PAX4):c.77C>G (p.Thr26Ser)	PAX4 (T26S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957607	NM_001366110.1(PAX4):c.562+10T>C	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928118	NM_001366110.1(PAX4):c.894C>T (p.Ala298=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905534	NM_001366110.1(PAX4):c.772-18C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903705	NM_001366110.1(PAX4):c.521G>A (p.Arg174Gln)	PAX4 (R174Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1803877	NM_001366110.1(PAX4):c.-101_-100+2del	PAX4	Deletion (splice donor variant)	Type 2 diabetes mellitus +1 more	GUncertain significance
Select item 1803618	NM_001366110.1(PAX4):c.1008_1009dup (p.Gln337fs)	PAX4 (Q337fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1803426	NM_001366110.1(PAX4):c.706C>T (p.Gln236Ter)	PAX4 (Q236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1711962	NM_001366110.1(PAX4):c.568del (p.Gln190fs)	PAX4 (Q190fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1710653	NM_001366110.1(PAX4):c.280G>A (p.Glu94Lys)	PAX4 (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1684984	NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter)	PAX4 (W341*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1660102	NM_001366110.1(PAX4):c.144+16C>T	PAX4	Single nucleotide variant (intron variant)	Diabetes mellitus, ketosis-prone +3 more	GBenign/Likely benign
Select item 1620539	NM_001366110.1(PAX4):c.175G>C (p.Gly59Arg)	PAX4 (G59R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1617511	NM_001366110.1(PAX4):c.563-11G>A	PAX4	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 1583240	NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu)	PAX4 (R39L)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1571696	NM_001366110.1(PAX4):c.498C>T (p.His166=)	PAX4	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1570070	NM_001366110.1(PAX4):c.345G>A (p.Gln115=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 9 +3 more	GBenign/Likely benign
Select item 1544850	NM_001366110.1(PAX4):c.72G>T (p.Leu24=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1524214	NM_001366110.1(PAX4):c.914G>A (p.Gly305Asp)	PAX4 (G305D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522069	NM_001366110.1(PAX4):c.800C>T (p.Ala267Val)	PAX4 (A267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505122	NM_001366110.1(PAX4):c.776C>A (p.Ser259Tyr)	PAX4 (S259Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484638	NM_001366110.1(PAX4):c.467A>G (p.His156Arg)	PAX4 (H156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464867	NM_001366110.1(PAX4):c.181T>C (p.Tyr61His)	PAX4 (Y61H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448516	NM_001366110.1(PAX4):c.638C>T (p.Thr213Met)	PAX4 (T213M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425526	NM_001366110.1(PAX4):c.80G>A (p.Arg27Gln)	PAX4 (R27Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1405247	NM_001366110.1(PAX4):c.118C>A (p.Pro40Thr)	PAX4 (P40T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394523	NM_001366110.1(PAX4):c.58C>G (p.Arg20Gly)	PAX4 (R20G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381394	NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)	PAX4 (R163Q)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +3 more	GUncertain significance
Select item 1359441	NM_001366110.1(PAX4):c.771+6C>T	PAX4	Single nucleotide variant (intron variant)	not provided +3 more	GUncertain significance
Select item 1350407	NM_001366110.1(PAX4):c.94C>G (p.Arg32Gly)	PAX4 (R32G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345146	NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)	PAX4 (A338V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1344955	NM_001366110.1(PAX4):c.563-24C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1343920	NM_001366110.1(PAX4):c.715+43T>C	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1340674	GRCh37/hg19 7q31.33-32.1(chr7:127050634-127826231)x3	ARF5, FSCN3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1340651	GRCh37/hg19 7q32.1(chr7:127167087-127664956)x3	ARF5, FSCN3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1336955	NM_001366110.1(PAX4):c.449C>T (p.Pro150Leu)	PAX4 (P150L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336936	NM_001366110.1(PAX4):c.762C>T (p.Ile254=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 1336068	NM_001366110.1(PAX4):c.545C>T (p.Ala182Val)	PAX4 (A182V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1326079	NM_001366110.1(PAX4):c.716-42C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320922	NM_001366110.1(PAX4):c.69T>C (p.Pro23=)	PAX4	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 9 +3 more	GBenign/Likely benign
Select item 1318903	NM_001366110.1(PAX4):c.182A>G (p.Tyr61Cys)	PAX4 (Y61C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318473	NM_001366110.1(PAX4):c.134G>A (p.Arg45Gln)	PAX4 (R45Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317377	NM_001366110.1(PAX4):c.211G>A (p.Gly71Ser)	PAX4 (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316919	NM_001366110.1(PAX4):c.511C>T (p.His171Tyr)	PAX4 (H171Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1316203	NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)	PAX4 (R226C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1315981	NM_001366110.1(PAX4):c.250G>C (p.Val84Leu)	PAX4 (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315885	NM_001366110.1(PAX4):c.179G>A (p.Arg60His)	PAX4 (R60H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1292426	NM_001366110.1(PAX4):c.772-62C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292342	NM_001366110.1(PAX4):c.145-136G>C	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign

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