23512[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1549601.	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 GRCh37: Chr17:27274843-30817038 GRCh38: Chr17:28947825-32490020	ABHD15, ADAP2, ANKRD13B, ATAD5, BLMH, C17orf75, CDK5R1, COPRS, CORO6, CPD, CRLF3, CRYBA1, EFCAB5, EVI2A, EVI2B, GIT1, GOSR1, LOC105371730, LOC106113036, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771183, LOC108771184, LOC108783647, LOC108783648, LOC108783652, LOC108783653, LOC110121426, LOC110806262, LOC111811965, LOC112529904, LOC112529905, LOC112529906, LOC112529907, LOC113939959, LOC113939960, LOC121587584, LOC121587585, LOC121587586, LOC125177445, LOC125177446, LOC125177447, LOC125177448, LOC125177449, LOC125177450, LOC125177451, LOC125177452, LOC125177453, LOC125177454, LOC125177455, LOC126862527, LOC126862528, LOC126862529, LOC126862530, LOC126862531, LOC129390847, LOC129390848, LOC129390849, LOC129390850, LOC129390851, LOC129390852, LOC130060584, LOC130060585, LOC130060586, LOC130060587, LOC130060588, LOC130060589, LOC130060590, LOC130060591, LOC130060592, LOC130060593, LOC130060594, LOC130060595, LOC130060596, LOC130060597, LOC130060598, LOC130060599, LOC130060600, LOC130060601, LOC130060602, LOC130060603, LOC130060604, LOC130060605, LOC130060606, LOC130060607, LOC130060608, LOC130060609, LOC130060610, LOC130060611, LOC130060612, LOC130060613, LOC130060614, LOC130060615, LOC130060616, LOC130060617, LOC130060618, LOC130060619, LOC130060620, LOC130060621, LOC130060622, LOC130060623, LOC130060624, LOC130060625, LOC130060626, LOC130060627, LOC130060628, LOC130060629, LOC130060630, LOC130060631, LOC130060632, LOC130060633, LOC130060634, LOC130060635, LOC130060636, LOC130060637, LOC130060638, LOC130060639, LOC130060640, LOC130060641, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LOC130060673, LOC130060674, LOC130060675, LOC130060676, LOC130060677, LOC130060678, LOC130060679, LOC130060680, LOC130060681, LOC130060682, LOC130060683, LRRC37B, MIR193A, MIR3184, MIR365B, MIR365BHG, MIR423, MIR4523, MIR4724, MIR4725, MIR4733, MIR4733HG, MIR632, MYO18A, NF1, NSRP1, NUFIP2, OMG, PHF12, PIPOX, PSMD11, RAB11FIP4, RHBDL3, RHOT1, RNF135, SEZ6, SLC6A4, SSH2, STIN2-VNTR, SUZ12, TAOK1, TBC1D29P, TEFM, TMIGD1, TP53I13, TRT-CGT4-1, UTP6, ZNF207		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 1537362.	GRCh38/hg38 17q11.2(chr17:30625268-32059496)x1 GRCh37: Chr17:28952286-30386515 GRCh38: Chr17:30625268-32059496	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113036, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771183, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177453, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 26, 2013)	no assertion criteria provided
Select item 581363.	GRCh38/hg38 17q11.2(chr17:30630734-32088380)x3 GRCh37: Chr17:28957752-30415399 GRCh38: Chr17:30630734-32088380	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113036, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177453, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1532224.	GRCh38/hg38 17q11.2(chr17:30666018-32085769)x1 GRCh37: Chr17:28993036-30412788 GRCh38: Chr17:30666018-32085769	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 1, 2014)	no assertion criteria provided
Select item 581395.	GRCh38/hg38 17q11.2(chr17:30667972-32023858)x3 GRCh37: Chr17:28994990-30350877 GRCh38: Chr17:30667972-32023858	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 604606.	GRCh38/hg38 17q11.2(chr17:30672816-31999939)x1 GRCh37: Chr17:28999834-30326958 GRCh38: Chr17:30672816-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1539157.	GRCh38/hg38 17q11.2(chr17:30677603-32071701)x3 GRCh37: Chr17:29004621-30398720 GRCh38: Chr17:30677603-32071701	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Uncertain significance (Feb 14, 2018)	no assertion criteria provided
Select item 1552118.	GRCh38/hg38 17q11.2(chr17:30678153-32073866)x1 GRCh37: Chr17:29005171-30400885 GRCh38: Chr17:30678153-32073866	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Mar 11, 2013)	no assertion criteria provided
Select item 1515109.	GRCh38/hg38 17q11.2(chr17:30684919-32021402)x1 GRCh37: Chr17:29011937-30348421 GRCh38: Chr17:30684919-32021402	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Apr 30, 2011)	no assertion criteria provided
Select item 15027610.	GRCh38/hg38 17q11.2(chr17:30706845-31999933)x1 GRCh37: Chr17:29033863-30326952 GRCh38: Chr17:30706845-31999933	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 6046111.	GRCh38/hg38 17q11.2(chr17:30706863-31994624)x1 GRCh37: Chr17:29033881-30321643 GRCh38: Chr17:30706863-31994624	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 16087812.	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x1 GRCh37: Chr17:29033882-30326958 GRCh38: Chr17:30706864-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5703113.	GRCh38/hg38 17q11.2(chr17:30706864-32099761)x3 GRCh37: Chr17:29033882-30426780 GRCh38: Chr17:30706864-32099761	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771182, LOC108771184, LOC108783647, LOC108783648, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 3498914.	GRCh38/hg38 17q11.2(chr17:30706864-31999939)x3 GRCh37: Chr17:29033882-30326958 GRCh38: Chr17:30706864-31999939	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Uncertain significance (Feb 14, 2018)	no assertion criteria provided
Select item 6046215.	GRCh38/hg38 17q11.2(chr17:30767194-31937486)x1 GRCh37: Chr17:29094212-30264505 GRCh38: Chr17:30767194-31937486	ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108783647, LOC108783652, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14863916.	GRCh38/hg38 17q11.2(chr17:31441351-32005206)x1 GRCh37: Chr17:29768369-30332225 GRCh38: Chr17:31441351-32005206	COPRS, LOC108783653, LOC112529907, LOC121587586, LOC125177455, LOC126862531, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, RAB11FIP4, SUZ12, TRT-CGT4-1, UTP6		See cases	Uncertain significance (Aug 26, 2011)	no assertion criteria provided
Select item 187892217.	NM_015355.4(SUZ12):c.16C>G (p.His6Asp) GRCh37: Chr17:30264281 GRCh38: Chr17:31937262	SUZ12	H6D	not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 170086018.	NM_015355.4(SUZ12):c.18C>A (p.His6Gln) GRCh37: Chr17:30264283 GRCh38: Chr17:31937264	SUZ12	H6Q	not provided	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 249446819.	NM_015355.4(SUZ12):c.89C>T (p.Ala30Val) GRCh37: Chr17:30264354 GRCh38: Chr17:31937335	SUZ12	A30V	Inborn genetic diseases	Uncertain significance (Mar 6, 2023)	criteria provided, single submitter
Select item 256916020.	NM_015355.4(SUZ12):c.101C>G (p.Ala34Gly) GRCh37: Chr17:30264366 GRCh38: Chr17:31937347	SUZ12	A34G	Inborn genetic diseases	Likely benign (May 10, 2023)	criteria provided, single submitter
Select item 256533221.	NM_015355.4(SUZ12):c.110C>T (p.Ser37Leu) GRCh37: Chr17:30264375 GRCh38: Chr17:31937356	SUZ12	S37L	Inborn genetic diseases	Uncertain significance (May 5, 2023)	criteria provided, single submitter
Select item 256955422.	NM_015355.4(SUZ12):c.133A>G (p.Ser45Gly) GRCh37: Chr17:30264398 GRCh38: Chr17:31937379	SUZ12	S45G	Inborn genetic diseases	Likely benign (Apr 7, 2023)	criteria provided, single submitter
Select item 223137423.	NM_015355.4(SUZ12):c.140G>C (p.Gly47Ala) GRCh37: Chr17:30264405 GRCh38: Chr17:31937386	SUZ12	G47A	Inborn genetic diseases	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 228455924.	NM_015355.4(SUZ12):c.151A>G (p.Ser51Gly) GRCh37: Chr17:30264416 GRCh38: Chr17:31937397	SUZ12	S51G	Inborn genetic diseases	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 170655025.	NM_015355.4(SUZ12):c.156C>G (p.Tyr52Ter) GRCh37: Chr17:30264421 GRCh38: Chr17:31937402	SUZ12	Y52*	not specified	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 264764426.	NM_015355.4(SUZ12):c.163TCC[4] (p.Ser59del) GRCh37: Chr17:30264426-30264428 GRCh38: Chr17:31937407-31937409	SUZ12	S59del	not provided	Benign (Jun 1, 2022)	criteria provided, single submitter
Select item 254942527.	NM_015355.4(SUZ12):c.170C>T (p.Ser57Phe) GRCh37: Chr17:30264435 GRCh38: Chr17:31937416	SUZ12	S57F	Inborn genetic diseases	Uncertain significance (May 22, 2023)	criteria provided, single submitter
Select item 78127628.	NM_015355.4(SUZ12):c.192G>T (p.Ala64=) GRCh37: Chr17:30264457 GRCh38: Chr17:31937438	SUZ12		not provided	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 78185729.	NM_015355.4(SUZ12):c.211G>A (p.Val71Met) GRCh37: Chr17:30264476 GRCh38: Chr17:31937457	SUZ12	V71M	not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 246392930.	NM_015355.4(SUZ12):c.250G>A (p.Glu84Lys) GRCh37: Chr17:30264515 GRCh38: Chr17:31937496	SUZ12	E84K	Inborn genetic diseases	Uncertain significance (Feb 15, 2023)	criteria provided, single submitter
Select item 264764531.	NM_015355.4(SUZ12):c.261C>T (p.Leu87=) GRCh37: Chr17:30264526 GRCh38: Chr17:31937507	SUZ12		not provided	Likely benign (Feb 1, 2023)	criteria provided, single submitter
Select item 244332432.	NM_015355.4(SUZ12):c.274+5G>A GRCh37: Chr17:30264544 GRCh38: Chr17:31937525	SUZ12		Imagawa-Matsumoto syndrome	Uncertain significance (Jan 8, 2020)	criteria provided, single submitter
Select item 77149533.	NM_015355.4(SUZ12):c.274+8T>C GRCh37: Chr17:30264547 GRCh38: Chr17:31937528	SUZ12		Imagawa-Matsumoto syndrome, not provided	Benign/Likely benign (Aug 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 171143634.	NM_015355.4(SUZ12):c.274+273G>A GRCh37: Chr17:30264812 GRCh38: Chr17:31937793	SUZ12		not provided	Benign (Oct 1, 2023)	criteria provided, single submitter
Select item 264764635.	NM_015355.4(SUZ12):c.274+321C>T GRCh37: Chr17:30264860 GRCh38: Chr17:31937841	SUZ12		not provided	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 264764736.	NM_015355.4(SUZ12):c.274+899C>T GRCh37: Chr17:30265438 GRCh38: Chr17:31938419	SUZ12		not provided	Benign (Jul 1, 2022)	criteria provided, single submitter
Select item 169484037.	NM_015355.4(SUZ12):c.275-1072del GRCh37: Chr17:30266233 GRCh38: Chr17:31939214	SUZ12		not provided	Benign (Oct 1, 2022)	criteria provided, single submitter
Select item 264764838.	NM_015355.4(SUZ12):c.275-843A>G GRCh37: Chr17:30266462 GRCh38: Chr17:31939443	SUZ12		not provided	Benign (Oct 1, 2022)	criteria provided, single submitter
Select item 63155039.	NM_015355.4(SUZ12):c.275-5C>G GRCh37: Chr17:30267300 GRCh38: Chr17:31940281	SUZ12		not provided	Uncertain significance (May 7, 2019)	criteria provided, single submitter
Select item 63155240.	NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs) GRCh37: Chr17:30267462-30267465 GRCh38: Chr17:31940443-31940446	SUZ12	Y117fs	not provided	Pathogenic (Jul 3, 2019)	criteria provided, multiple submitters, no conflicts
Select item 107575841.	NM_015355.4(SUZ12):c.348_349del (p.Tyr117fs) GRCh37: Chr17:30267467-30267468 GRCh38: Chr17:31940448-31940449	SUZ12	Y117fs	not provided	Pathogenic (Jul 21, 2020)	criteria provided, single submitter
Select item 98570442.	NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter) GRCh37: Chr17:30267480 GRCh38: Chr17:31940461	SUZ12	R121*	Inborn genetic diseases	Pathogenic (Aug 19, 2020)	criteria provided, single submitter
Select item 168624043.	NM_015355.4(SUZ12):c.386+1G>A GRCh37: Chr17:30267506 GRCh38: Chr17:31940487	SUZ12		Imagawa-Matsumoto syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 264764944.	NM_015355.4(SUZ12):c.456-3T>A GRCh37: Chr17:30293163 GRCh38: Chr17:31966144	SUZ12		not provided	Likely benign (Jan 1, 2023)	criteria provided, single submitter
Select item 131264645.	NM_015355.4(SUZ12):c.640C>G (p.Pro214Ala) GRCh37: Chr17:30302549 GRCh38: Chr17:31975530	SUZ12	P191A, P214A	not provided	Uncertain significance (May 14, 2020)	criteria provided, single submitter
Select item 255698646.	NM_015355.4(SUZ12):c.692C>G (p.Ala231Gly) GRCh37: Chr17:30302601 GRCh38: Chr17:31975582	SUZ12	A231G, A208G	Inborn genetic diseases	Uncertain significance (Jun 5, 2023)	criteria provided, single submitter
Select item 131223047.	NM_015355.4(SUZ12):c.698C>G (p.Ser233Cys) GRCh37: Chr17:30302607 GRCh38: Chr17:31975588	SUZ12	S210C, S233C	not provided	Uncertain significance (Jun 11, 2023)	criteria provided, single submitter
Select item 231646648.	NM_015355.4(SUZ12):c.728A>G (p.His243Arg) GRCh37: Chr17:30302637 GRCh38: Chr17:31975618	SUZ12	H220R, H243R	Inborn genetic diseases	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 264765049.	NM_015355.4(SUZ12):c.747G>A (p.Ser249=) GRCh37: Chr17:30302656 GRCh38: Chr17:31975637	SUZ12		not provided	Likely benign (Apr 1, 2023)	criteria provided, single submitter
Select item 252565350.	NM_015355.4(SUZ12):c.812A>T (p.Asn271Ile) GRCh37: Chr17:30302721 GRCh38: Chr17:31975702	SUZ12	N248I, N271I	Inborn genetic diseases	Uncertain significance (Mar 22, 2023)	criteria provided, single submitter
Select item 240226851.	NM_015355.4(SUZ12):c.812A>G (p.Asn271Ser) GRCh37: Chr17:30302721 GRCh38: Chr17:31975702	SUZ12	N271S, N248S	Inborn genetic diseases	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 134311252.	NM_015355.4(SUZ12):c.814G>T (p.Glu272Ter) GRCh37: Chr17:30302723 GRCh38: Chr17:31975704	SUZ12	E249, E272	Developmental disorder	Uncertain significance (Aug 4, 2021)	criteria provided, single submitter
Select item 81271653.	NM_015355.4(SUZ12):c.844_845del (p.Ala282fs) GRCh37: Chr17:30303560-30303561 GRCh38: Chr17:31976541-31976542	SUZ12	A259fs, A282fs	Imagawa-Matsumoto syndrome	Pathogenic (Feb 21, 2020)	no assertion criteria provided
Select item 263576754.	NM_015355.4(SUZ12):c.856C>T (p.Arg286Ter) GRCh37: Chr17:30303572 GRCh38: Chr17:31976553	SUZ12	R263, R286	SUZ12-related condition	Likely pathogenic (Apr 10, 2023)	criteria provided, single submitter
Select item 261533855.	NM_015355.4(SUZ12):c.865G>A (p.Glu289Lys) GRCh37: Chr17:30303581 GRCh38: Chr17:31976562	SUZ12	E266K, E289K	Inborn genetic diseases	Uncertain significance (Aug 2, 2023)	criteria provided, single submitter
Select item 170695856.	NM_015355.4(SUZ12):c.917G>C (p.Arg306Thr) GRCh37: Chr17:30303633 GRCh38: Chr17:31976614	SUZ12	R283T, R306T	not provided	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 121533657.	NM_015355.4(SUZ12):c.919C>T (p.Arg307Cys) GRCh37: Chr17:30310019 GRCh38: Chr17:31983000	SUZ12	R284C, R307C	not provided	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 131221058.	NM_015355.4(SUZ12):c.1002G>A (p.Trp334Ter) GRCh37: Chr17:30310102 GRCh38: Chr17:31983083	SUZ12	W311, W334	not provided	Uncertain significance (Sep 22, 2019)	criteria provided, single submitter
Select item 74569659.	NM_015355.4(SUZ12):c.1038C>T (p.Phe346=) GRCh37: Chr17:30315353 GRCh38: Chr17:31988334	SUZ12		not provided	Likely benign (May 31, 2018)	criteria provided, single submitter
Select item 170519160.	NM_015355.4(SUZ12):c.1039G>A (p.Glu347Lys) GRCh37: Chr17:30315354 GRCh38: Chr17:31988335	SUZ12	E324K, E347K	not specified	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 250636361.	NM_015355.4(SUZ12):c.1049C>T (p.Ser350Phe) GRCh37: Chr17:30315364 GRCh38: Chr17:31988345	SUZ12	S327F, S350F	Imagawa-Matsumoto syndrome	Likely pathogenic (Jun 15, 2023)	criteria provided, single submitter
Select item 261077962.	NM_015355.4(SUZ12):c.1072A>G (p.Thr358Ala) GRCh37: Chr17:30315387 GRCh38: Chr17:31988368	SUZ12	T358A, T335A	Inborn genetic diseases	Uncertain significance (Jul 11, 2023)	criteria provided, single submitter
Select item 260683363.	NM_015355.4(SUZ12):c.1098T>G (p.Asn366Lys) GRCh37: Chr17:30315413 GRCh38: Chr17:31988394	SUZ12	N343K, N366K	Inborn genetic diseases	Uncertain significance (Jun 28, 2023)	criteria provided, single submitter
Select item 74567764.	NM_015355.4(SUZ12):c.1110G>A (p.Thr370=) GRCh37: Chr17:30315425 GRCh38: Chr17:31988406	SUZ12		not provided	Likely benign (May 21, 2018)	criteria provided, single submitter
Select item 170569465.	NM_015355.4(SUZ12):c.1132dup (p.Ala378fs) GRCh37: Chr17:30315446-30315447 GRCh38: Chr17:31988427-31988428	SUZ12	A355fs, A378fs	Imagawa-Matsumoto syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 99807166.	NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs) GRCh37: Chr17:30315461-30315462 GRCh38: Chr17:31988442-31988443	SUZ12	L362fs, L385fs	Acute megakaryoblastic leukemia in down syndrome, not provided	Pathogenic/Likely pathogenic (Nov 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 130852367.	NM_015355.4(SUZ12):c.1159C>T (p.Gln387Ter) GRCh37: Chr17:30315474 GRCh38: Chr17:31988455	SUZ12	Q364, Q387	not provided	Uncertain significance (Apr 2, 2019)	criteria provided, single submitter
Select item 226567668.	NM_015355.4(SUZ12):c.1223C>G (p.Thr408Arg) GRCh37: Chr17:30320282 GRCh38: Chr17:31993263	SUZ12	T408R, T385R	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 78745069.	NM_015355.4(SUZ12):c.1233A>C (p.Gln411His) GRCh37: Chr17:30320292 GRCh38: Chr17:31993273	SUZ12	Q411H, Q388H	not provided	Likely benign (Oct 24, 2018)	criteria provided, single submitter
Select item 97739370.	NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala) GRCh37: Chr17:30320293 GRCh38: Chr17:31993274	SUZ12	T389A, T412A	Global developmental delay	Uncertain significance (Nov 12, 2019)	no assertion criteria provided
Select item 130958671.	NM_015355.4(SUZ12):c.1244_1248del (p.Glu415fs) GRCh37: Chr17:30320295-30320299 GRCh38: Chr17:31993276-31993280	SUZ12	E392fs, E415fs	not provided	Uncertain significance (Oct 30, 2019)	criteria provided, single submitter
Select item 78556672.	NM_015355.4(SUZ12):c.1266C>T (p.Asn422=) GRCh37: Chr17:30320325 GRCh38: Chr17:31993306	SUZ12		not provided	Benign (Dec 31, 2019)	criteria provided, single submitter
Select item 244332373.	NM_015355.4(SUZ12):c.1267C>T (p.Arg423Ter) GRCh37: Chr17:30320326 GRCh38: Chr17:31993307	SUZ12	R400, R423	Imagawa-Matsumoto syndrome	Likely pathogenic (Jan 8, 2020)	criteria provided, single submitter
Select item 75024174.	NM_015355.4(SUZ12):c.1326T>G (p.Thr442=) GRCh37: Chr17:30320916 GRCh38: Chr17:31993897	SUZ12		not provided	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 213612175.	NM_015355.4(SUZ12):c.1350C>G (p.Cys450Trp) GRCh37: Chr17:30320940 GRCh38: Chr17:31993921	SUZ12	C427W, C450W	not provided	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 74319476.	NM_015355.4(SUZ12):c.1410C>T (p.Cys470=) GRCh37: Chr17:30321000 GRCh38: Chr17:31993981	SUZ12		not provided	Likely benign (May 4, 2018)	criteria provided, single submitter
Select item 250488677.	NM_015355.4(SUZ12):c.1437+3_1437+6del GRCh37: Chr17:30321028-30321031 GRCh38: Chr17:31994009-31994012	SUZ12		not provided	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 133357878.	NM_015355.4(SUZ12):c.1437+1G>T GRCh37: Chr17:30321028 GRCh38: Chr17:31994009	SUZ12		Imagawa-Matsumoto syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 106543779.	NM_015355.4(SUZ12):c.1451del (p.Gly484fs) GRCh37: Chr17:30321595 GRCh38: Chr17:31994576	SUZ12	G461fs, G484fs	Imagawa-Matsumoto syndrome, Non-immune hydrops fetalis	Likely pathogenic (Apr 16, 2020)	criteria provided, single submitter
Select item 73374980.	NM_015355.4(SUZ12):c.1485T>C (p.Tyr495=) GRCh37: Chr17:30321630 GRCh38: Chr17:31994611	SUZ12		not provided	Likely benign (Jun 4, 2018)	criteria provided, single submitter
Select item 91608881.	NM_015355.4(SUZ12):c.1561_1562del (p.Lys521fs) GRCh37: Chr17:30321706-30321707 GRCh38: Chr17:31994687-31994688	SUZ12	K498fs, K521fs	not provided	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 228909382.	NM_015355.4(SUZ12):c.1585C>T (p.Leu529Phe) GRCh37: Chr17:30321730 GRCh38: Chr17:31994711	SUZ12	L506F, L529F	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 262997683.	NM_015355.4(SUZ12):c.1594A>G (p.Arg532Gly) GRCh37: Chr17:30321739 GRCh38: Chr17:31994720	SUZ12	R509G, R532G	SUZ12-related condition	Uncertain significance (Dec 27, 2022)	criteria provided, single submitter
Select item 130511284.	NM_015355.4(SUZ12):c.1604G>A (p.Arg535Gln) GRCh37: Chr17:30322591 GRCh38: Chr17:31995572	SUZ12	R512Q, R535Q	not provided	Uncertain significance (Jan 22, 2021)	criteria provided, single submitter
Select item 97674985.	NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter) GRCh37: Chr17:30322644 GRCh38: Chr17:31995625	SUZ12	Q530, Q553	Imagawa-Matsumoto syndrome	Pathogenic (Aug 8, 2019)	criteria provided, single submitter
Select item 71274386.	NM_015355.4(SUZ12):c.1671T>C (p.Tyr557=) GRCh37: Chr17:30322658 GRCh38: Chr17:31995639	SUZ12		Imagawa-Matsumoto syndrome, not provided	Benign/Likely benign (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130932387.	NM_015355.4(SUZ12):c.1786del (p.Thr596fs) GRCh37: Chr17:30322768 GRCh38: Chr17:31995749	SUZ12	T573fs, T596fs	not provided	Uncertain significance (Oct 17, 2019)	criteria provided, single submitter
Select item 63154988.	NM_015355.4(SUZ12):c.1794+1G>A GRCh37: Chr17:30322782 GRCh38: Chr17:31995763	SUZ12		not provided	Pathogenic (Apr 17, 2020)	criteria provided, single submitter
Select item 223990789.	NM_015355.4(SUZ12):c.1794+6T>A GRCh37: Chr17:30322787 GRCh38: Chr17:31995768	SUZ12		Inborn genetic diseases	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 59093990.	NM_015355.4(SUZ12):c.1797A>C (p.Gln599His) GRCh37: Chr17:30323819 GRCh38: Chr17:31996800	SUZ12	Q599H, Q576H	Weaver syndrome	Uncertain significance (Feb 12, 2018)	criteria provided, single submitter
Select item 81271791.	NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu) GRCh37: Chr17:30323829 GRCh38: Chr17:31996810	SUZ12	F603L, F580L	Imagawa-Matsumoto syndrome	Pathogenic (Feb 21, 2020)	no assertion criteria provided
Select item 63155192.	NM_015355.4(SUZ12):c.1826dup (p.Glu610fs) GRCh37: Chr17:30323846-30323847 GRCh38: Chr17:31996827-31996828	SUZ12	E587fs, E610fs	not provided	Pathogenic (May 8, 2019)	criteria provided, single submitter
Select item 43064793.	NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val) GRCh37: Chr17:30323851 GRCh38: Chr17:31996832	SUZ12	E610V, E587V	Imagawa-Matsumoto syndrome	Pathogenic (Feb 21, 2020)	no assertion criteria provided
Select item 169905894.	NM_015355.4(SUZ12):c.1874+8A>G GRCh37: Chr17:30323904 GRCh38: Chr17:31996885	SUZ12		Neurodevelopmental disorder	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 107271495.	NM_015355.4(SUZ12):c.1891C>T (p.Gln631Ter) GRCh37: Chr17:30325693 GRCh38: Chr17:31998674	SUZ12	Q608, Q631	not provided	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 133460696.	NM_015355.4(SUZ12):c.1917T>G (p.Phe639Leu) GRCh37: Chr17:30325719 GRCh38: Chr17:31998700	SUZ12	F616L, F639L	not provided	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 249826397.	NM_015355.4(SUZ12):c.1918G>A (p.Val640Ile) GRCh37: Chr17:30325720 GRCh38: Chr17:31998701	SUZ12	V617I, V640I	Teratoma	Uncertain significance (Jan 1, 2023)	no assertion criteria provided
Select item 74680498.	NM_015355.4(SUZ12):c.1929T>C (p.Tyr643=) GRCh37: Chr17:30325731 GRCh38: Chr17:31998712	SUZ12		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 134263699.	NM_015355.4(SUZ12):c.1938A>C (p.Lys646Asn) GRCh37: Chr17:30325740 GRCh38: Chr17:31998721	SUZ12	K623N, K646N	Imagawa-Matsumoto syndrome	Uncertain significance (Feb 26, 2021)	criteria provided, single submitter
Select item 2635282100.	NM_015355.4(SUZ12):c.1947GAA[1] (p.Lys650del) GRCh37: Chr17:30325747-30325749 GRCh38: Chr17:31998728-31998730	SUZ12	K627del, K650del	SUZ12-related condition	Uncertain significance (Nov 16, 2022)	criteria provided, single submitter

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