5078[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	CPA1, CPA2 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC126860238, LOC126860239 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC101928782, LOC101928861 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 148342	GRCh38/hg38 7q31.32-32.1(chr7:123829366-127947731)x1	ARF5, FSCN3 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 more	Copy number loss	See cases	GPathogenic
Select item 358773	NM_001366110.1(PAX4):c.*722T>C	PAX4	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358774	NM_001366110.1(PAX4):c.*667AT[1]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 358778	NM_001366110.1(PAX4):c.*521C>T	PAX4	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 358777	NM_001366110.1(PAX4):c.514_521delinsTGAT	PAX4	Indel (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358775	NM_001366110.1(PAX4):c.518_521delinsACACTGAT	PAX4	Indel (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358779	NM_001366110.1(PAX4):c.*494AC[14]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358776	NM_001366110.1(PAX4):c.*494AC[13]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 358780	NM_001366110.1(PAX4):c.*494AC[11]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358781	NM_001366110.1(PAX4):c.492_497del	PAX4	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GUncertain significance
Select item 358783	NM_001366110.1(PAX4):c.493_494insGCAC	PAX4	Insertion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 358782	NM_001366110.1(PAX4):c.*488GC[4]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GLikely benign
Select item 358784	NM_001366110.1(PAX4):c.*492G>A	PAX4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 358786	NM_001366110.1(PAX4):c.474_477dup	PAX4	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358785	NM_001366110.1(PAX4):c.477_478insATGT	PAX4	Insertion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 358788	NM_001366110.1(PAX4):c.*469TATG[3]	PAX4	Microsatellite (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GBenign
Select item 358787	NM_001366110.1(PAX4):c.*477C>T	PAX4	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GBenign
Select item 358789	NM_001366110.1(PAX4):c.*402T>C	PAX4	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 358790	NM_001366110.1(PAX4):c.*287C>T	PAX4	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
Select item 358791	NM_001366110.1(PAX4):c.*211A>G	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GBenign
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 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 358792	NM_001366110.1(PAX4):c.*190C>T	PAX4 (T342I)	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +1 more	GLikely benign
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 358793	NM_001366110.1(PAX4):c.*66C>T	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 358794	NM_001366110.1(PAX4):c.*33A>C	PAX4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
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 358795	NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)	PAX4 (P342S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1684984	NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter)	PAX4 (W341*)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GUncertain significance
Select item 358796	NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)	PAX4	Single nucleotide variant (synonymous variant +1 more)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 1345146	NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)	PAX4 (A338V)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 9 +2 more	GConflicting classifications of pathogenicity
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 129878	NM_001366110.1(PAX4):c.986A>C (p.His329Pro)	PAX4 (H329P)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +3 more	GConflicting classifications of pathogenicity
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 393408	NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu)	PAX4 (P311L)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 9 +5 more	GUncertain significance
Select item 3414506	NM_001366110.1(PAX4):c.921G>T (p.Leu307Phe)	PAX4 (L307F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3618189	NM_001366110.1(PAX4):c.914-22CT[2]	PAX4	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 1212667	NM_001366110.1(PAX4):c.913+48G>A	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3652397	NM_001366110.1(PAX4):c.913+14C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 358797	NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)	PAX4 (P302T)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 1928118	NM_001366110.1(PAX4):c.894C>T (p.Ala298=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	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 436159	NM_001366110.1(PAX4):c.868T>C (p.Cys290Arg)	PAX4 (C290R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1522069	NM_001366110.1(PAX4):c.800C>T (p.Ala267Val)	PAX4 (A267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502226	NM_001366110.1(PAX4):c.779dup (p.Gly261fs)	PAX4 (G261fs)	Duplication (frameshift variant)	Type 2 diabetes mellitus +1 more	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 13794	NM_001366110.1(PAX4):c.772-1G>A	PAX4	Single nucleotide variant (splice acceptor variant)	Maturity-onset diabetes of the young type 9	GPathogenic
Select item 358798	NM_001366110.1(PAX4):c.772-13dup	PAX4	Duplication (intron variant)	Maturity onset diabetes mellitus in young +2 more	GConflicting classifications of pathogenicity
Select item 358799	NM_001366110.1(PAX4):c.772-3del	PAX4	Deletion (intron variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
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 1905534	NM_001366110.1(PAX4):c.772-18C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292426	NM_001366110.1(PAX4):c.772-62C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201308	NM_001366110.1(PAX4):c.772-96G>A	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209499	NM_001366110.1(PAX4):c.771+113T>C	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1336936	NM_001366110.1(PAX4):c.762C>T (p.Ile254=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
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 3414507	NM_001366110.1(PAX4):c.742A>G (p.Arg248Gly)	PAX4 (R248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3780100	NM_001366110.1(PAX4):c.725_726insC (p.Gln242fs)	PAX4 (Q242fs)	Insertion (frameshift variant)	Monogenic diabetes	GUncertain significance
Select item 1326079	NM_001366110.1(PAX4):c.716-42C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195732	NM_001366110.1(PAX4):c.716-51C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207444	NM_001366110.1(PAX4):c.715+181C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238942	NM_001366110.1(PAX4):c.715+173T>G	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253132	NM_001366110.1(PAX4):c.715+44ATCC[12]	PAX4	Microsatellite (intron variant)	not provided	GBenign
Select item 1200916	NM_001366110.1(PAX4):c.715+44ATCC[13]	PAX4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1200016	NM_001366110.1(PAX4):c.715+44ATCC[9]	PAX4	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1181800	NM_001366110.1(PAX4):c.715+44ATCC[10]	PAX4	Microsatellite (intron variant)	not provided	GBenign
Select item 1343920	NM_001366110.1(PAX4):c.715+43T>C	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868010	NM_001366110.1(PAX4):c.715+15C>G	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3891908	NM_001366110.1(PAX4):c.706C>G (p.Gln236Glu)	PAX4 (Q236E)	Single nucleotide variant (missense variant)	Diabetes mellitus, ketosis-prone +2 more	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 2871985	NM_001366110.1(PAX4):c.693C>T (p.Leu231=)	PAX4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2970834	NM_001366110.1(PAX4):c.677G>T (p.Arg226Leu)	PAX4 (R226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236365	NM_001366110.1(PAX4):c.677G>A (p.Arg226His)	PAX4 (R226H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1316203	NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)	PAX4 (R226C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 9 +3 more	GUncertain significance
Select item 358800	NM_001366110.1(PAX4):c.646-7C>T	PAX4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1232108	NM_001366110.1(PAX4):c.645+53G>A	PAX4	Single nucleotide variant (intron variant)	not provided	GBenign
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 1201272	NM_001366110.1(PAX4):c.636C>T (p.Asp212=)	PAX4	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 129875	NM_001366110.1(PAX4):c.599G>A (p.Arg200His)	PAX4 (R200H)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 3671870	NM_001366110.1(PAX4):c.598C>T (p.Arg200Cys)	PAX4 (R200C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358801	NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser)	PAX4 (R200S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 358802	NM_001366110.1(PAX4):c.572G>A (p.Arg191His)	PAX4 (R191H)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +5 more	GUncertain significance
Select item 358803	NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys)	PAX4 (R191C)	Single nucleotide variant (missense variant)	Maturity onset diabetes mellitus in young +1 more	GConflicting classifications of pathogenicity
Select item 1711962	NM_001366110.1(PAX4):c.568del (p.Gln190fs)	PAX4 (Q190fs)	Deletion (frameshift variant)	not provided	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 1617511	NM_001366110.1(PAX4):c.563-11G>A	PAX4	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 9 +3 more	GLikely benign
Select item 2967217	NM_001366110.1(PAX4):c.563-12C>T	PAX4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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