ClinVar for MedGen (Select 87433) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273371.	NM_000545.8(HNF1A):c.544C>T (p.Gln182Ter) GRCh37: Chr12:121431340 GRCh38: Chr12:120993537	HNF1A	Q182*	Maturity onset diabetes mellitus in young	Pathogenic (Sep 27, 2023)	criteria provided, single submitter
Select item 25877102.	NM_000545.8(HNF1A):c.373C>T (p.Gln125Ter) GRCh37: Chr12:121426682 GRCh38: Chr12:120988879	HNF1A	Q125*	Maturity onset diabetes mellitus in young	Pathogenic (Aug 26, 2023)	criteria provided, single submitter
Select item 25808803.	NM_000162.5(GCK):c.484G>A (p.Gly162Ser) GRCh37: Chr7:44189663 GRCh38: Chr7:44150064	GCK	G161S, G162S, G163S	Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 25808794.	NM_000162.5(GCK):c.484-11_484-6del GRCh37: Chr7:44189669-44189674 GRCh38: Chr7:44150070-44150075	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25808785.	NM_000162.5(GCK):c.482A>G (p.Lys161Arg) GRCh37: Chr7:44190556 GRCh38: Chr7:44150957	GCK	K160R, K161R, K162R	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25808776.	NM_000162.5(GCK):c.356C>G (p.Ala119Gly) GRCh37: Chr7:44191877 GRCh38: Chr7:44152278	GCK	A118G, A119G, A120G	Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 25808767.	NM_000162.5(GCK):c.208+15C>G GRCh37: Chr7:44192885 GRCh38: Chr7:44153286	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25808758.	NM_175914.5(HNF4A):c.1063G>C (p.Gly355Arg) GRCh37: Chr20:43052894 GRCh38: Chr20:44424254	HNF4A	G352R, G355R, G370R, G377R	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 25808749.	NM_175914.5(HNF4A):c.426G>A (p.Gln142=) GRCh37: Chr20:43042440 GRCh38: Chr20:44413800	HNF4A		Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 258087310.	NM_175914.5(HNF4A):c.225-3C>A GRCh37: Chr20:43036018 GRCh38: Chr20:44407378	HNF4A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258087211.	NM_000545.8(HNF1A):c.1742_1768+2delinsACAGGG GRCh37: Chr12:121437404-121437432 GRCh38: Chr12:120999601-120999629	HNF1A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258087112.	NM_000545.8(HNF1A):c.1623G>A (p.Gln541=) GRCh37: Chr12:121437192 GRCh38: Chr12:120999389	HNF1A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258087013.	NM_000545.8(HNF1A):c.1501+4A>G GRCh37: Chr12:121435472 GRCh38: Chr12:120997669	HNF1A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086914.	NM_000162.5(GCK):c.208G>C (p.Glu70Gln) GRCh37: Chr7:44192900 GRCh38: Chr7:44153301	GCK	E69Q, E70Q, E71Q	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086815.	NM_000545.8(HNF1A):c.955+5G>C GRCh37: Chr12:121432213 GRCh38: Chr12:120994410	HNF1A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086716.	NM_000545.8(HNF1A):c.713+10C>T GRCh37: Chr12:121431519 GRCh38: Chr12:120993716	HNF1A		Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 258086617.	NM_000545.8(HNF1A):c.526+5G>A GRCh37: Chr12:121426840 GRCh38: Chr12:120989037	HNF1A		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086518.	NM_000162.5(GCK):c.1190_1253+11dup GRCh37: Chr7:44185084-44185085 GRCh38: Chr7:44145485-44145486	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086419.	NM_000162.5(GCK):c.1019+20G>A GRCh37: Chr7:44186042 GRCh38: Chr7:44146443	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086320.	NM_000162.5(GCK):c.1019G>C (p.Ser340Thr) GRCh37: Chr7:44186062 GRCh38: Chr7:44146463	GCK	S339T, S340T, S341T	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086221.	NM_000162.5(GCK):c.863+5G>A GRCh37: Chr7:44187244 GRCh38: Chr7:44147645	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086122.	NM_000162.5(GCK):c.680-6C>G GRCh37: Chr7:44187438 GRCh38: Chr7:44147839	GCK		Maturity onset diabetes mellitus in young	Pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258086023.	NM_000162.5(GCK):c.679+5G>A GRCh37: Chr7:44189354 GRCh38: Chr7:44149755	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258085924.	NM_000162.5(GCK):c.679G>C (p.Gly227Arg) GRCh37: Chr7:44189359 GRCh38: Chr7:44149760	GCK	G226R, G227R, G228R	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258085825.	NM_000162.5(GCK):c.677T>G (p.Val226Gly) GRCh37: Chr7:44189361 GRCh38: Chr7:44149762	GCK	V225G, V226G, V227G	Maturity onset diabetes mellitus in young	Likely pathogenic (Nov 1, 2022)	criteria provided, single submitter
Select item 258085726.	NM_000162.5(GCK):c.580-3del GRCh37: Chr7:44189461 GRCh38: Chr7:44149862	GCK		Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 258085627.	NM_000162.5(GCK):c.580-3C>A GRCh37: Chr7:44189461 GRCh38: Chr7:44149862	GCK		Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 258085528.	NM_000162.5(GCK):c.580-9T>G GRCh37: Chr7:44189467 GRCh38: Chr7:44149868	GCK		Maturity onset diabetes mellitus in young	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 257699329.	NM_178161.3(PTF1A):c.784+1G>A GRCh37: Chr10:23482244 GRCh38: Chr10:23193315	PTF1A		Maturity onset diabetes mellitus in young	Pathogenic (Aug 15, 2023)	criteria provided, single submitter
Select item 257341130.	NC_000017.10:g.(?_36046433)_(36105070_?)del GRCh37: Chr17:36046433-36105070	HNF1B		Maturity onset diabetes mellitus in young	Pathogenic (Jun 28, 2023)	criteria provided, single submitter
Select item 256807231.	NM_000545.8(HNF1A):c.408C>G (p.Thr136=) GRCh37: Chr12:121426717 GRCh38: Chr12:120988914	HNF1A		Maturity onset diabetes mellitus in young	Likely benign (Apr 5, 2023)	criteria provided, single submitter
Select item 256792032.	NM_000162.5(GCK):c.458C>A (p.Pro153His) GRCh37: Chr7:44190580 GRCh38: Chr7:44150981	GCK	P152H, P153H, P154H	Maturity onset diabetes mellitus in young	Uncertain significance (Apr 18, 2023)	criteria provided, single submitter
Select item 256139433.	NM_000162.5(GCK):c.534G>A (p.Gly178=) GRCh37: Chr7:44189613 GRCh38: Chr7:44150014	GCK		Maturity onset diabetes mellitus in young	Likely benign (Apr 7, 2023)	criteria provided, single submitter
Select item 250259334.	NM_000545.8(HNF1A):c.998_1013del (p.Val333fs) GRCh37: Chr12:121434106-121434121 GRCh38: Chr12:120996303-120996318	HNF1A	V333fs	Maturity onset diabetes mellitus in young, not provided	Pathogenic/Likely pathogenic (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 249671635.	NM_000545.8(HNF1A):c.1719C>T (p.Ala573=) GRCh37: Chr12:121437381 GRCh38: Chr12:120999578	HNF1A		Maturity onset diabetes mellitus in young	Likely benign (Nov 15, 2022)	criteria provided, single submitter
Select item 249664536.	NM_000162.5(GCK):c.921C>G (p.Leu307=) GRCh37: Chr7:44186160 GRCh38: Chr7:44146561	GCK		Maturity onset diabetes mellitus in young	Likely benign (Feb 2, 2023)	criteria provided, single submitter
Select item 245384637.	NM_000545.8(HNF1A):c.204G>A (p.Arg68=) GRCh37: Chr12:121416775 GRCh38: Chr12:120978972	HNF1A		Maturity onset diabetes mellitus in young	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 245372038.	NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr) GRCh37: Chr13:28494465 GRCh38: Chr13:27920328	PDX1	D64Y	Maturity onset diabetes mellitus in young	Uncertain significance (Dec 6, 2022)	criteria provided, single submitter
Select item 244232639.	NM_175914.5(HNF4A):c.50-4560G>T GRCh37: Chr20:43030138 GRCh38: Chr20:44401498	HNF4A		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 244231940.	NM_175914.5(HNF4A):c.*2761G>T GRCh37: Chr20:43061066 GRCh38: Chr20:44432426	HNF4A		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 244231841.	NM_175914.5(HNF4A):c.2698_2703dup GRCh37: Chr20:43060984-43060985 GRCh38: Chr20:44432344-44432345	HNF4A		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 244231742.	NM_175914.5(HNF4A):c.2678_2679insTT GRCh37: Chr20:43060982-43060983 GRCh38: Chr20:44432342-44432343	HNF4A		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 243464143.	NM_000209.4(PDX1):c.128CGC[6] (p.Pro47_His48insPro) GRCh37: Chr13:28494401-28494402 GRCh38: Chr13:27920264-27920265	PDX1		Maturity onset diabetes mellitus in young, not provided	Conflicting interpretations of pathogenicity (Jun 4, 2023)	criteria provided, conflicting interpretations
Select item 243183944.	NM_000162.5(GCK):c.579+4del GRCh37: Chr7:44189564 GRCh38: Chr7:44149965	GCK		Maturity-onset diabetes of the young type 2, Maturity onset diabetes mellitus in young	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 217637345.	NM_000162.5(GCK):c.264G>A (p.Leu88=) GRCh37: Chr7:44191969 GRCh38: Chr7:44152370	GCK		not provided, Maturity onset diabetes mellitus in young	Likely benign (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216489546.	NM_000545.8(HNF1A):c.492C>G (p.Thr164=) GRCh37: Chr12:121426801 GRCh38: Chr12:120988998	HNF1A		not provided, Maturity onset diabetes mellitus in young	Benign/Likely benign (Apr 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213651847.	NM_000162.5(GCK):c.679G>A (p.Gly227Ser) GRCh37: Chr7:44189359 GRCh38: Chr7:44149760	GCK	G227S, G226S, G228S	not provided, Maturity onset diabetes mellitus in young	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 203863848.	NM_000545.8(HNF1A):c.1602C>T (p.Ala534=) GRCh37: Chr12:121437171 GRCh38: Chr12:120999368	HNF1A		not provided, Maturity onset diabetes mellitus in young	Likely benign (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197994449.	NM_000209.4(PDX1):c.693C>G (p.Ser231=) GRCh37: Chr13:28498679 GRCh38: Chr13:27924542	PDX1		Maturity onset diabetes mellitus in young, not provided	Likely benign (Jul 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 193876750.	NM_000162.5(GCK):c.1359G>T (p.Ser453=) GRCh37: Chr7:44184774 GRCh38: Chr7:44145175	GCK		Maturity onset diabetes mellitus in young, not provided	Likely benign (Dec 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180267051.	NM_000458.4(HNF1B):c.298A>T (p.Thr100Ser) GRCh37: Chr17:36104578 GRCh38: Chr17:37744587	HNF1B	T100S	Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180266952.	NM_000458.4(HNF1B):c.983C>G (p.Pro328Arg) GRCh37: Chr17:36091648 GRCh38: Chr17:37731657	HNF1B	P302R, P328R	Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180266853.	NM_000458.4(HNF1B):c.1505C>A (p.Ala502Glu) GRCh37: Chr17:36061017 GRCh38: Chr17:37701012	HNF1B	A476E, A502E	Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180266754.	NM_000458.4(HNF1B):c.325G>C (p.Glu109Gln) GRCh37: Chr17:36104551 GRCh38: Chr17:37744560	HNF1B	E109Q	Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180266655.	NM_000458.4(HNF1B):c.972C>A (p.His324Gln) GRCh37: Chr17:36091659 GRCh38: Chr17:37731668	HNF1B	H298Q, H324Q	Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180266556.	NM_000458.4(HNF1B):c.1045+330G>T GRCh37: Chr17:36091256 GRCh38: Chr17:37731265	HNF1B		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180266457.	NM_000162.5(GCK):c.137G>A (p.Arg46Lys) GRCh37: Chr7:44192971 GRCh38: Chr7:44153372	GCK	R45K, R46K, R47K	Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180253458.	NM_000458.4(HNF1B):c.1116C>T (p.Ser372=) GRCh37: Chr17:36070601 GRCh38: Chr17:37710593	HNF1B		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180253359.	NM_000458.4(HNF1B):c.738G>A (p.Leu246=) GRCh37: Chr17:36093621 GRCh38: Chr17:37733628	HNF1B, LOC126862549		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 180253060.	NM_000545.8(HNF1A):c.866C>T (p.Pro289Leu) GRCh37: Chr12:121432119 GRCh38: Chr12:120994316	HNF1A	P289L	not provided, Maturity onset diabetes mellitus in young	Conflicting interpretations of pathogenicity (Aug 15, 2022)	criteria provided, conflicting interpretations
Select item 180252961.	NM_000458.4(HNF1B):c.58G>C (p.Gly20Arg) GRCh37: Chr17:36104818 GRCh38: Chr17:37744827	HNF1B	G20R	Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180252862.	NM_000458.4(HNF1B):c.545-73TCTG[3] GRCh37: Chr17:36093864-36093871 GRCh38: Chr17:37733871-37733882	HNF1B, LOC126862549		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180252763.	NM_000458.4(HNF1B):c.516C>T (p.Tyr172=) GRCh37: Chr17:36099459 GRCh38: Chr17:37739468	HNF1B		Maturity onset diabetes mellitus in young	Pathogenic	criteria provided, single submitter
Select item 180252664.	NM_000458.4(HNF1B):c.1340-3C>T GRCh37: Chr17:36061185 GRCh38: Chr17:37701180	HNF1B		Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180252565.	NM_000545.8(HNF1A):c.160C>G (p.Arg54Gly) GRCh37: Chr12:121416731 GRCh38: Chr12:120978928	HNF1A	R54G	Maturity onset diabetes mellitus in young	Pathogenic	criteria provided, single submitter
Select item 180252466.	NM_000545.8(HNF1A):c.598C>A (p.Arg200=) GRCh37: Chr12:121431394 GRCh38: Chr12:120993591	HNF1A		Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180216467.	NM_000458.4(HNF1B):c.*409A>C GRCh37: Chr17:36046966 GRCh38: Chr17:37686963	HNF1B		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 180216368.	NM_000458.4(HNF1B):c.544+7G>A GRCh37: Chr17:36099424 GRCh38: Chr17:37739433	HNF1B		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 180216269.	NM_000458.4(HNF1B):c.221T>G (p.Leu74Trp) GRCh37: Chr17:36104655 GRCh38: Chr17:37744664	HNF1B	L74W	Maturity onset diabetes mellitus in young	Pathogenic	criteria provided, single submitter
Select item 180185370.	NM_000162.5(GCK):c.98T>G (p.Val33Gly) GRCh37: Chr7:44193010 GRCh38: Chr7:44153411	GCK	V32G, V33G, V34G	Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180185271.	NM_000162.5(GCK):c.57C>A (p.Ile19=) GRCh37: Chr7:44193051 GRCh38: Chr7:44153452	GCK		Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 180184972.	NM_000162.5(GCK):c.183C>T (p.Tyr61=) GRCh37: Chr7:44192925 GRCh38: Chr7:44153326	GCK		not provided, Maturity onset diabetes mellitus in young	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180184573.	NM_000458.4(HNF1B):c.636G>C (p.Gln212His) GRCh37: Chr17:36093723 GRCh38: Chr17:37733730	HNF1B, LOC126862549	Q186H, Q212H	Maturity onset diabetes mellitus in young	Uncertain significance	criteria provided, single submitter
Select item 180184474.	NM_000458.4(HNF1B):c.703C>A (p.Arg235=) GRCh37: Chr17:36093656 GRCh38: Chr17:37733663	HNF1B, LOC126862549		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180184375.	NM_000458.4(HNF1B):c.755G>A (p.Arg252Gln) GRCh37: Chr17:36093604 GRCh38: Chr17:37733611	HNF1B, LOC126862549	R226Q, R252Q	Maturity onset diabetes mellitus in young, not provided	Conflicting interpretations of pathogenicity (Oct 1, 2022)	criteria provided, conflicting interpretations
Select item 180183376.	NM_000162.5(GCK):c.540T>C (p.Asn180=) GRCh37: Chr7:44189607 GRCh38: Chr7:44150008	GCK		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180182277.	NM_000162.5(GCK):c.580-13T>C GRCh37: Chr7:44189471 GRCh38: Chr7:44149872	GCK		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180181878.	NM_000162.5(GCK):c.46-5907_46-5906dup GRCh37: Chr7:44198967-44198968 GRCh38: Chr7:44159368-44159369	GCK		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180171479.	NM_000162.5(GCK):c.904G>T (p.Val302Leu) GRCh37: Chr7:44186177 GRCh38: Chr7:44146578	GCK	V301L, V302L, V303L	Maturity onset diabetes mellitus in young	Uncertain risk allele	criteria provided, single submitter
Select item 180171380.	NM_000162.5(GCK):c.680-15C>T GRCh37: Chr7:44187447 GRCh38: Chr7:44147848	GCK		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180168681.	NM_000162.5(GCK):c.1020-10C>T GRCh37: Chr7:44185339 GRCh38: Chr7:44145740	GCK		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 180168582.	NM_000162.5(GCK):c.1019+16G>T GRCh37: Chr7:44186046 GRCh38: Chr7:44146447	GCK		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180168483.	NM_000162.5(GCK):c.995C>T (p.Thr332Met) GRCh37: Chr7:44186086 GRCh38: Chr7:44146487	GCK	T331M, T332M, T333M	Maturity onset diabetes mellitus in young	Likely pathogenic	criteria provided, single submitter
Select item 180168384.	NM_000162.5(GCK):c.1123T>A (p.Ser375Thr) GRCh37: Chr7:44185226 GRCh38: Chr7:44145627	GCK	S374T, S375T, S376T, S38T, S53T	Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180151485.	NM_000162.5(GCK):c.1229G>T (p.Gly410Val) GRCh37: Chr7:44185120 GRCh38: Chr7:44145521	GCK	G30V, G409V, G410V, G411V, G73V, G88V	Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180151386.	NM_000162.5(GCK):c.792C>T (p.Gly264=) GRCh37: Chr7:44187320 GRCh38: Chr7:44147721	GCK		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180151287.	NM_000162.5(GCK):c.1253+2T>G GRCh37: Chr7:44185094 GRCh38: Chr7:44145495	GCK		Maturity onset diabetes mellitus in young	Likely pathogenic	criteria provided, single submitter
Select item 180151188.	NM_000162.5(GCK):c.-449G>T GRCh37: Chr7:44229001 GRCh38: Chr7:44189402	GCK		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180150789.	NM_000545.8(HNF1A):c.1309+86TCAT[8] GRCh37: Chr12:121434630-121434631 GRCh38: Chr12:120996827-120996828	HNF1A		Maturity onset diabetes mellitus in young	Benign	criteria provided, single submitter
Select item 180150690.	NM_000545.8(HNF1A):c.805G>T (p.Ala269Ser) GRCh37: Chr12:121432058 GRCh38: Chr12:120994255	HNF1A	A269S	Maturity onset diabetes mellitus in young	Likely risk allele	criteria provided, single submitter
Select item 180149791.	NM_000545.8(HNF1A):c.639C>A (p.Ile213=) GRCh37: Chr12:121431435 GRCh38: Chr12:120993632	HNF1A		Maturity onset diabetes mellitus in young	Likely benign	criteria provided, single submitter
Select item 179937692.	NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile) GRCh37: Chr17:36070590 GRCh38: Chr17:37710582	HNF1B	T376I, T350I	Maturity onset diabetes mellitus in young, not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179935093.	NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp) GRCh37: Chr20:43036101 GRCh38: Chr20:44407461	HNF4A	G102D, G117D, G124D, G99D	Monogenic diabetes	Uncertain significance (Sep 1, 2023)	reviewed by expert panel FDA Recognized Database
Select item 179880094.	NM_175914.5(HNF4A):c.300G>T (p.Arg100=) GRCh37: Chr20:43036096 GRCh38: Chr20:44407456	HNF4A		Maturity onset diabetes mellitus in young	Likely benign (Mar 16, 2020)	criteria provided, single submitter
Select item 179878895.	NM_000162.5(GCK):c.300C>T (p.Ser100=) GRCh37: Chr7:44191933 GRCh38: Chr7:44152334	GCK		Maturity onset diabetes mellitus in young	Likely benign (Aug 28, 2018)	criteria provided, single submitter
Select item 179726896.	NM_000209.4(PDX1):c.288C>G (p.Pro96=) GRCh37: Chr13:28494563 GRCh38: Chr13:27920426	PDX1		Maturity onset diabetes mellitus in young	Likely benign (May 31, 2019)	criteria provided, single submitter
Select item 179349497.	NM_000209.4(PDX1):c.258C>T (p.Leu86=) GRCh37: Chr13:28494533 GRCh38: Chr13:27920396	PDX1		Maturity onset diabetes mellitus in young	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 179039798.	NM_000458.4(HNF1B):c.1008C>G (p.His336Gln) GRCh37: Chr17:36091623 GRCh38: Chr17:37731632	HNF1B	H336Q, H310Q	Maturity onset diabetes mellitus in young	Uncertain significance (Jun 1, 2016)	criteria provided, single submitter
Select item 178999199.	NM_000209.4(PDX1):c.234G>T (p.Ala78=) GRCh37: Chr13:28494509 GRCh38: Chr13:27920372	PDX1		Maturity onset diabetes mellitus in young	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 1789551100.	NM_000209.4(PDX1):c.231C>T (p.Pro77=) GRCh37: Chr13:28494506 GRCh38: Chr13:27920369	PDX1		Maturity onset diabetes mellitus in young	Likely benign (Apr 21, 2022)	criteria provided, single submitter

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