ClinVar for MedGen (Select 324338) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13270901.	NM_001005498.4(RHBDF2):c.1106A>T (p.Asp369Val) GRCh37: Chr17:74472921 GRCh38: Chr17:76476839	RHBDF2	D369V, D398V	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2021)	criteria provided, single submitter
Select item 12437662.	NM_001005498.4(RHBDF2):c.151-109C>G GRCh37: Chr17:74476045 GRCh38: Chr17:76479963	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9983853.	NM_001005498.4(RHBDF2):c.556G>A (p.Gly186Arg) GRCh37: Chr17:74475004 GRCh38: Chr17:76478922	RHBDF2	G186R, G215R	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Apr 10, 2020)	criteria provided, single submitter
Select item 9976554.	NM_001005498.4(RHBDF2):c.2032G>A (p.Ala678Thr) GRCh37: Chr17:74468800 GRCh38: Chr17:76472718	RHBDF2	A678T, A707T	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Nov 25, 2020)	criteria provided, single submitter
Select item 9976455.	NM_001005498.4(RHBDF2):c.1993G>A (p.Ala665Thr) GRCh37: Chr17:74468839 GRCh38: Chr17:76472757	RHBDF2	A665T, A694T	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 7, 2020)	criteria provided, single submitter
Select item 9976096.	NM_001005498.4(RHBDF2):c.2166C>A (p.Asn722Lys) GRCh37: Chr17:74468033 GRCh38: Chr17:76471951	RHBDF2	N722K, N751K	Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9975527.	NM_001005498.4(RHBDF2):c.956G>A (p.Arg319Gln) GRCh37: Chr17:74473071 GRCh38: Chr17:76476989	RHBDF2	R319Q, R348Q	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Mar 18, 2019)	criteria provided, single submitter
Select item 9730688.	NM_001005498.4(RHBDF2):c.722G>A (p.Arg241His) GRCh37: Chr17:74473818 GRCh38: Chr17:76477736	RHBDF2	R270H, R241H	not provided	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 8922549.	NM_001005498.4(RHBDF2):c.151-27G>T GRCh37: Chr17:74475963 GRCh38: Chr17:76479881	RHBDF2	A71S	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89225310.	NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=) GRCh37: Chr17:74475916 GRCh38: Chr17:76479834	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89225211.	NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln) GRCh37: Chr17:74475884 GRCh38: Chr17:76479802	RHBDF2	R97Q, R68Q	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89225112.	NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys) GRCh37: Chr17:74475849 GRCh38: Chr17:76479767	RHBDF2	R80C, R109C	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89219413.	NM_001005498.4(RHBDF2):c.1039A>G (p.Asn347Asp) GRCh37: Chr17:74472988 GRCh38: Chr17:76476906	RHBDF2	N376D, N347D	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89219314.	NM_001005498.4(RHBDF2):c.1235G>A (p.Arg412Gln) GRCh37: Chr17:74470879 GRCh38: Chr17:76474797	RHBDF2	R441Q, R412Q	Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 89213415.	NM_001005498.4(RHBDF2):c.*53G>T GRCh37: Chr17:74467662 GRCh38: Chr17:76471580	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89102716.	NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp) GRCh37: Chr17:74475313 GRCh38: Chr17:76479231	RHBDF2	R136W, R107W	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89095917.	NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val) GRCh37: Chr17:74470544 GRCh38: Chr17:76474462	RHBDF2	L488V, L459V	Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 89095818.	NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) GRCh37: Chr17:74470158 GRCh38: Chr17:76474076	RHBDF2	G511S, G540S	Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Feb 3, 2022)	criteria provided, conflicting interpretations
Select item 89095719.	NM_001005498.4(RHBDF2):c.1574+7C>T GRCh37: Chr17:74470108 GRCh38: Chr17:76474026	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89090320.	NM_001005498.4(RHBDF2):c.*205C>T GRCh37: Chr17:74467510 GRCh38: Chr17:76471428	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89090221.	NM_001005498.4(RHBDF2):c.*342T>C GRCh37: Chr17:74467373 GRCh38: Chr17:76471291	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 89090122.	NM_001005498.4(RHBDF2):c.*405T>C GRCh37: Chr17:74467310 GRCh38: Chr17:76471228	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89054523.	NM_001005498.4(RHBDF2):c.-228C>T GRCh37: Chr17:74497443 GRCh38: Chr17:76501361	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89054424.	NM_001005498.4(RHBDF2):c.-220+12G>A GRCh37: Chr17:74497423 GRCh38: Chr17:76501341	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89054325.	NM_001005498.4(RHBDF2):c.-175A>G GRCh37: Chr17:74483947 GRCh38: Chr17:76487865	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89046626.	NM_001005498.4(RHBDF2):c.560T>C (p.Val187Ala) GRCh37: Chr17:74475000 GRCh38: Chr17:76478918	RHBDF2	V216A, V187A	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89046527.	NM_001005498.4(RHBDF2):c.617G>C (p.Arg206Pro) GRCh37: Chr17:74474943 GRCh38: Chr17:76478861	RHBDF2	R206P, R235P	Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome	Conflicting interpretations of pathogenicity (Aug 12, 2021)	criteria provided, conflicting interpretations
Select item 89046428.	NM_001005498.4(RHBDF2):c.666C>T (p.Leu222=) GRCh37: Chr17:74474894 GRCh38: Chr17:76478812	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89033629.	NM_001005498.4(RHBDF2):c.*475T>G GRCh37: Chr17:74467240 GRCh38: Chr17:76471158	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89033530.	NM_001005498.4(RHBDF2):c.*537G>A GRCh37: Chr17:74467178 GRCh38: Chr17:76471096	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88885031.	NM_001005498.4(RHBDF2):c.-43G>A GRCh37: Chr17:74483815 GRCh38: Chr17:76487733	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88884932.	NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg) GRCh37: Chr17:74477582 GRCh38: Chr17:76481500	RHBDF2	G9R	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88884833.	NM_001005498.4(RHBDF2):c.98C>T (p.Pro33Leu) GRCh37: Chr17:74477509 GRCh38: Chr17:76481427	RHBDF2	P33L	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88876034.	NM_001005498.4(RHBDF2):c.822T>C (p.Pro274=) GRCh37: Chr17:74473360 GRCh38: Chr17:76477278	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88875935.	NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) GRCh37: Chr17:74473329 GRCh38: Chr17:76477247	RHBDF2	A314T, A285T	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 88875836.	NM_001005498.4(RHBDF2):c.899C>G (p.Pro300Arg) GRCh37: Chr17:74473283 GRCh38: Chr17:76477201	RHBDF2	P329R, P300R	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 88869637.	NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=) GRCh37: Chr17:74469089 GRCh38: Chr17:76473007	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 88869538.	NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met) GRCh37: Chr17:74468920 GRCh38: Chr17:76472838	RHBDF2	V638M, V667M	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Apr 6, 2018)	criteria provided, single submitter
Select item 88869439.	NM_001005498.4(RHBDF2):c.2064+7A>G GRCh37: Chr17:74468761 GRCh38: Chr17:76472679	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign (Dec 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88869340.	NM_001005498.4(RHBDF2):c.2088C>T (p.Phe696=) GRCh37: Chr17:74468111 GRCh38: Chr17:76472029	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88863441.	NM_001005498.4(RHBDF2):c.*590C>T GRCh37: Chr17:74467125 GRCh38: Chr17:76471043	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 88863342.	NM_001005498.4(RHBDF2):c.*606C>T GRCh37: Chr17:74467109 GRCh38: Chr17:76471027	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88863243.	NM_001005498.4(RHBDF2):c.*703G>A GRCh37: Chr17:74467012 GRCh38: Chr17:76470930	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 72492044.	NM_001005498.4(RHBDF2):c.272+10C>T GRCh37: Chr17:74475805 GRCh38: Chr17:76479723	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Likely benign (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63178945.	NM_001005498.4(RHBDF2):c.823del (p.Asp275fs) GRCh37: Chr17:74473359 GRCh38: Chr17:76477277	RHBDF2	D275fs, D304fs	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jun 27, 2017)	criteria provided, single submitter
Select item 36923146.	NM_024599.5(RHBDF2):c.-305C>G GRCh37: Chr17:74497520 GRCh38: Chr17:76501438	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36923047.	NM_024599.5(RHBDF2):c.-297C>T GRCh37: Chr17:74497512 GRCh38: Chr17:76501430	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36922948.	NM_024599.5(RHBDF2):c.*742A>C GRCh37: Chr17:74466973 GRCh38: Chr17:76470891	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32547149.	NM_001005498.4(RHBDF2):c.-272C>A GRCh37: Chr17:74497487 GRCh38: Chr17:76501405	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32547050.	NM_001005498.4(RHBDF2):c.-115G>A GRCh37: Chr17:74483887 GRCh38: Chr17:76487805	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32546951.	NM_001005498.4(RHBDF2):c.-14G>A GRCh37: Chr17:74477620 GRCh38: Chr17:76481538	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32546852.	NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) GRCh37: Chr17:74477579 GRCh38: Chr17:76481497	RHBDF2	S10R	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32546753.	NM_001005498.4(RHBDF2):c.31G>A (p.Val11Met) GRCh37: Chr17:74477576 GRCh38: Chr17:76481494	RHBDF2	V11M	Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome	Conflicting interpretations of pathogenicity (May 17, 2023)	criteria provided, conflicting interpretations
Select item 32546654.	NM_001005498.4(RHBDF2):c.151-39G>T GRCh37: Chr17:74475975 GRCh38: Chr17:76479893	RHBDF2	A67S	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32546555.	NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) GRCh37: Chr17:74475874 GRCh38: Chr17:76479792	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32546456.	NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His) GRCh37: Chr17:74475848 GRCh38: Chr17:76479766	RHBDF2	R109H, R80H	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32546357.	NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) GRCh37: Chr17:74475355 GRCh38: Chr17:76479273	RHBDF2	A122T, A93T	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32546258.	NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) GRCh37: Chr17:74475318 GRCh38: Chr17:76479236	RHBDF2	G134E, G105E	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32546159.	NM_001005498.4(RHBDF2):c.327G>T (p.Gln109His) GRCh37: Chr17:74475305 GRCh38: Chr17:76479223	RHBDF2	Q138H, Q109H	Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32546060.	NM_001005498.4(RHBDF2):c.359T>C (p.Met120Thr) GRCh37: Chr17:74475273 GRCh38: Chr17:76479191	RHBDF2	M149T, M120T	Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32545961.	NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) GRCh37: Chr17:74475271 GRCh38: Chr17:76479189	RHBDF2	R150C, R121C	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 18, 2022)	criteria provided, conflicting interpretations
Select item 32545862.	NM_001005498.4(RHBDF2):c.391C>T (p.Arg131Cys) GRCh37: Chr17:74475241 GRCh38: Chr17:76479159	RHBDF2	R160C, R131C	Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Dec 3, 2021)	criteria provided, conflicting interpretations
Select item 32545763.	NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) GRCh37: Chr17:74475050 GRCh38: Chr17:76478968	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545664.	NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) GRCh37: Chr17:74475035 GRCh38: Chr17:76478953	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545565.	NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) GRCh37: Chr17:74475024 GRCh38: Chr17:76478942	RHBDF2	P208L, P179L	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545466.	NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) GRCh37: Chr17:74475014 GRCh38: Chr17:76478932	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545367.	NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) GRCh37: Chr17:74474947 GRCh38: Chr17:76478865	RHBDF2	R234C, R205C	Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545268.	NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr) GRCh37: Chr17:74474902 GRCh38: Chr17:76478820	RHBDF2	A249T, A220T	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32545169.	NM_001005498.4(RHBDF2):c.680C>T (p.Ser227Leu) GRCh37: Chr17:74473860 GRCh38: Chr17:76477778	RHBDF2	S256L, S227L	Palmoplantar keratoderma-esophageal carcinoma syndrome	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32545070.	NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) GRCh37: Chr17:74473859 GRCh38: Chr17:76477777	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32544971.	NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln) GRCh37: Chr17:74473836 GRCh38: Chr17:76477754	RHBDF2	R264Q, R235Q	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 32544872.	NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe) GRCh37: Chr17:74473752 GRCh38: Chr17:76477670	RHBDF2	S292F, S263F	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32544773.	NM_001005498.4(RHBDF2):c.921-15C>T GRCh37: Chr17:74473121 GRCh38: Chr17:76477039	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32544674.	NM_001005498.4(RHBDF2):c.946C>T (p.Pro316Ser) GRCh37: Chr17:74473081 GRCh38: Chr17:76476999	RHBDF2	P345S, P316S	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32544575.	NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg) GRCh37: Chr17:74473078 GRCh38: Chr17:76476996	RHBDF2	G346R, G317R	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Conflicting interpretations of pathogenicity (Jun 29, 2022)	criteria provided, conflicting interpretations
Select item 32544476.	NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln) GRCh37: Chr17:74473023 GRCh38: Chr17:76476941	RHBDF2	R364Q, R335Q	not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Conflicting interpretations of pathogenicity (Mar 22, 2022)	criteria provided, conflicting interpretations
Select item 32544377.	NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=) GRCh37: Chr17:74472998 GRCh38: Chr17:76476916	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32544278.	NM_001005498.4(RHBDF2):c.1227+11T>C GRCh37: Chr17:74471101 GRCh38: Chr17:76475019	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32544179.	NM_001005498.4(RHBDF2):c.1302+8C>T GRCh37: Chr17:74470804 GRCh38: Chr17:76474722	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32544080.	NM_001005498.4(RHBDF2):c.1302+12G>A GRCh37: Chr17:74470800 GRCh38: Chr17:76474718	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32543981.	NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) GRCh37: Chr17:74470539 GRCh38: Chr17:76474457	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32543882.	NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) GRCh37: Chr17:74470523 GRCh38: Chr17:76474441	RHBDF2	R495W, R466W	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 7, 2023)	criteria provided, conflicting interpretations
Select item 32543783.	NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) GRCh37: Chr17:74470203 GRCh38: Chr17:76474121	RHBDF2	K525E, K496E	Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jul 7, 2023)	criteria provided, conflicting interpretations
Select item 32543684.	NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) GRCh37: Chr17:74470194 GRCh38: Chr17:76474112	RHBDF2	D528Y, D499Y	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 32543585.	NM_001005498.4(RHBDF2):c.1575-8G>A GRCh37: Chr17:74469992 GRCh38: Chr17:76473910	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32543486.	NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) GRCh37: Chr17:74469960 GRCh38: Chr17:76473878	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32543387.	NM_001005498.4(RHBDF2):c.1638+7G>A GRCh37: Chr17:74469914 GRCh38: Chr17:76473832	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32543288.	NM_001005498.4(RHBDF2):c.1638+12T>C GRCh37: Chr17:74469909 GRCh38: Chr17:76473827	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32543189.	NM_001005498.4(RHBDF2):c.1639-11C>G GRCh37: Chr17:74469835 GRCh38: Chr17:76473753	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32543090.	NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) GRCh37: Chr17:74469779 GRCh38: Chr17:76473697	RHBDF2	M591V, M562V	Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32542991.	NM_001005498.4(RHBDF2):c.1809+7C>T GRCh37: Chr17:74469327 GRCh38: Chr17:76473245	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32542892.	NM_001005498.4(RHBDF2):c.1809+11G>T GRCh37: Chr17:74469323 GRCh38: Chr17:76473241	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32542793.	NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) GRCh37: Chr17:74469185 GRCh38: Chr17:76473103	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32542694.	NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) GRCh37: Chr17:74469160 GRCh38: Chr17:76473078	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome, not provided	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32542595.	NM_001005498.4(RHBDF2):c.1960G>T (p.Asp654Tyr) GRCh37: Chr17:74468872 GRCh38: Chr17:76472790	RHBDF2	D683Y, D654Y	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32542496.	NM_001005498.4(RHBDF2):c.2073G>A (p.Pro691=) GRCh37: Chr17:74468126 GRCh38: Chr17:76472044	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32542397.	NM_001005498.4(RHBDF2):c.2161C>T (p.Leu721Phe) GRCh37: Chr17:74468038 GRCh38: Chr17:76471956	RHBDF2	L750F, L721F	Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32542298.	NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) GRCh37: Chr17:74467934 GRCh38: Chr17:76471852	RHBDF2		not provided, Palmoplantar keratoderma-esophageal carcinoma syndrome	Benign/Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 32542199.	NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) GRCh37: Chr17:74467834 GRCh38: Chr17:76471752	RHBDF2	A818T, A789T	Palmoplantar keratoderma-esophageal carcinoma syndrome	Conflicting interpretations of pathogenicity (Mar 19, 2019)	criteria provided, conflicting interpretations
Select item 325420100.	NM_001005498.4(RHBDF2):c.2451C>T (p.Cys817=) GRCh37: Chr17:74467748 GRCh38: Chr17:76471666	RHBDF2		Palmoplantar keratoderma-esophageal carcinoma syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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