ClinVar for MedGen (Select 340044) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 22032351.	NM_014585.6(SLC40A1):c.977G>T (p.Cys326Phe) GRCh37: Chr2:190428735 GRCh38: Chr2:189564009	SLC40A1	C326F	Hemochromatosis type 4	Likely pathogenic (Feb 12, 2022)	criteria provided, single submitter
Select item 22004582.	NM_014585.6(SLC40A1):c.212C>G (p.Ser71Cys) GRCh37: Chr2:190439946 GRCh38: Chr2:189575220	SLC40A1	S71C	Hemochromatosis type 4	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 21860023.	NM_014585.6(SLC40A1):c.1660G>A (p.Gly554Ser) GRCh37: Chr2:190426660 GRCh38: Chr2:189561934	SLC40A1	G554S	Inborn genetic diseases, Hemochromatosis type 4	Uncertain significance (Jan 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21839924.	NM_014585.6(SLC40A1):c.44-10G>T GRCh37: Chr2:190444616 GRCh38: Chr2:189579890	SLC40A1		Hemochromatosis type 4	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 21577175.	NM_014585.6(SLC40A1):c.1191C>T (p.Pro397=) GRCh37: Chr2:190428521 GRCh38: Chr2:189563795	SLC40A1		Hemochromatosis type 4	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 20962676.	NM_014585.6(SLC40A1):c.831A>G (p.Glu277=) GRCh37: Chr2:190428881 GRCh38: Chr2:189564155	SLC40A1		Hemochromatosis type 4	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 20727727.	NM_014585.6(SLC40A1):c.760+15A>G GRCh37: Chr2:190430065 GRCh38: Chr2:189565339	SLC40A1		Hemochromatosis type 4	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 20575898.	NM_014585.6(SLC40A1):c.657G>A (p.Glu219=) GRCh37: Chr2:190430183 GRCh38: Chr2:189565457	SLC40A1		Hemochromatosis type 4	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 20478529.	NM_014585.6(SLC40A1):c.979A>G (p.Ile327Val) GRCh37: Chr2:190428733 GRCh38: Chr2:189564007	SLC40A1	I327V	Hemochromatosis type 4	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 204673210.	NM_014585.6(SLC40A1):c.292G>T (p.Val98Leu) GRCh37: Chr2:190437667 GRCh38: Chr2:189572941	SLC40A1	V98L	Hemochromatosis type 4	Uncertain significance (Sep 5, 2022)	criteria provided, single submitter
Select item 204664011.	NM_014585.6(SLC40A1):c.1038G>C (p.Met346Ile) GRCh37: Chr2:190428674 GRCh38: Chr2:189563948	SLC40A1	M346I	Hemochromatosis type 4	Uncertain significance (Aug 14, 2022)	criteria provided, single submitter
Select item 203835312.	NM_014585.6(SLC40A1):c.1111C>T (p.Arg371Trp) GRCh37: Chr2:190428601 GRCh38: Chr2:189563875	SLC40A1	R371W	Hemochromatosis type 4	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 203206613.	NM_014585.6(SLC40A1):c.564C>T (p.Ala188=) GRCh37: Chr2:190430276 GRCh38: Chr2:189565550	SLC40A1		Hemochromatosis type 4	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 202938914.	NM_014585.6(SLC40A1):c.1005G>A (p.Gln335=) GRCh37: Chr2:190428707 GRCh38: Chr2:189563981	SLC40A1		Hemochromatosis type 4	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 202528815.	NM_014585.6(SLC40A1):c.532C>G (p.Arg178Gly) GRCh37: Chr2:190430308 GRCh38: Chr2:189565582	SLC40A1	R178G	Hemochromatosis type 4	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 201832116.	NM_014585.6(SLC40A1):c.611G>A (p.Gly204Asp) GRCh37: Chr2:190430229 GRCh38: Chr2:189565503	SLC40A1	G204D	Hemochromatosis type 4	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 199170817.	NM_014585.6(SLC40A1):c.294A>G (p.Val98=) GRCh37: Chr2:190437665 GRCh38: Chr2:189572939	SLC40A1		Hemochromatosis type 4	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 198649918.	NM_014585.6(SLC40A1):c.1569C>G (p.Leu523=) GRCh37: Chr2:190426751 GRCh38: Chr2:189562025	SLC40A1		Hemochromatosis type 4	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 197946719.	NM_014585.6(SLC40A1):c.1248G>A (p.Glu416=) GRCh37: Chr2:190428464 GRCh38: Chr2:189563738	SLC40A1		Hemochromatosis type 4	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 197536720.	NM_014585.6(SLC40A1):c.387+20C>T GRCh37: Chr2:190437552 GRCh38: Chr2:189572826	SLC40A1		Hemochromatosis type 4	Benign (Jun 14, 2022)	criteria provided, single submitter
Select item 196644221.	NM_014585.6(SLC40A1):c.25C>G (p.Arg9Gly) GRCh37: Chr2:190445162 GRCh38: Chr2:189580436	SLC40A1	R9G	Hemochromatosis type 4	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 195856922.	NM_014585.6(SLC40A1):c.957G>A (p.Met319Ile) GRCh37: Chr2:190428755 GRCh38: Chr2:189564029	SLC40A1	M319I	Hemochromatosis type 4	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 191323923.	NM_014585.6(SLC40A1):c.651C>T (p.Cys217=) GRCh37: Chr2:190430189 GRCh38: Chr2:189565463	SLC40A1		Hemochromatosis type 4	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 171152224.	NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys) GRCh37: Chr2:190439920 GRCh38: Chr2:189575194	SLC40A1	G80C	not provided, Hemochromatosis type 4	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 168366325.	NM_014585.6(SLC40A1):c.1606A>T (p.Ile536Phe) GRCh37: Chr2:190426714 GRCh38: Chr2:189561988	SLC40A1	I536F	Hemochromatosis type 4	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 166418126.	NM_014585.6(SLC40A1):c.585T>C (p.Ile195=) GRCh37: Chr2:190430255 GRCh38: Chr2:189565529	SLC40A1		Hemochromatosis type 4	Benign (Aug 21, 2022)	criteria provided, single submitter
Select item 164717727.	NM_014585.6(SLC40A1):c.1251A>G (p.Ser417=) GRCh37: Chr2:190428461 GRCh38: Chr2:189563735	SLC40A1		Hemochromatosis type 4	Likely benign (Dec 28, 2020)	criteria provided, single submitter
Select item 162598628.	NM_014585.6(SLC40A1):c.39C>T (p.Cys13=) GRCh37: Chr2:190445148 GRCh38: Chr2:189580422	SLC40A1		Hemochromatosis type 4	Likely benign (Dec 23, 2020)	criteria provided, single submitter
Select item 162235329.	NM_014585.6(SLC40A1):c.1119T>A (p.Gly373=) GRCh37: Chr2:190428593 GRCh38: Chr2:189563867	SLC40A1		Hemochromatosis type 4	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 162053530.	NM_014585.6(SLC40A1):c.271+10G>A GRCh37: Chr2:190439877 GRCh38: Chr2:189575151	SLC40A1		Hemochromatosis type 4	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 159004831.	NM_014585.6(SLC40A1):c.6C>G (p.Thr2=) GRCh37: Chr2:190445181 GRCh38: Chr2:189580455	SLC40A1		Hemochromatosis type 4	Likely benign (Mar 2, 2021)	criteria provided, single submitter
Select item 157580532.	NM_014585.6(SLC40A1):c.1395T>C (p.Ala465=) GRCh37: Chr2:190428317 GRCh38: Chr2:189563591	SLC40A1		Hemochromatosis type 4	Likely benign (Apr 21, 2021)	criteria provided, single submitter
Select item 156879733.	NM_014585.6(SLC40A1):c.1380A>G (p.Ala460=) GRCh37: Chr2:190428332 GRCh38: Chr2:189563606	SLC40A1		Hemochromatosis type 4	Likely benign (Dec 26, 2021)	criteria provided, single submitter
Select item 156572334.	NM_014585.6(SLC40A1):c.660C>T (p.Tyr220=) GRCh37: Chr2:190430180 GRCh38: Chr2:189565454	SLC40A1		Hemochromatosis type 4	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 156375235.	NM_014585.6(SLC40A1):c.1572A>G (p.Val524=) GRCh37: Chr2:190426748 GRCh38: Chr2:189562022	SLC40A1		Hemochromatosis type 4	Likely benign (Nov 26, 2021)	criteria provided, single submitter
Select item 153414736.	NM_014585.6(SLC40A1):c.387+8C>G GRCh37: Chr2:190437564 GRCh38: Chr2:189572838	SLC40A1		Hemochromatosis type 4	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 152917037.	NM_014585.6(SLC40A1):c.776C>A (p.Pro259His) GRCh37: Chr2:190428936 GRCh38: Chr2:189564210	SLC40A1	P259H	Hemochromatosis type 4	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 144680238.	NM_014585.6(SLC40A1):c.1295T>C (p.Met432Thr) GRCh37: Chr2:190428417 GRCh38: Chr2:189563691	SLC40A1	M432T	Hemochromatosis type 4	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 142273139.	NM_014585.6(SLC40A1):c.119G>A (p.Arg40Gln) GRCh37: Chr2:190440039 GRCh38: Chr2:189575313	SLC40A1	R40Q	Hemochromatosis type 4	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 141367540.	NM_014585.6(SLC40A1):c.629G>C (p.Gly210Ala) GRCh37: Chr2:190430211 GRCh38: Chr2:189565485	SLC40A1	G210A	Hemochromatosis type 4	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 140393041.	NM_014585.6(SLC40A1):c.1051A>G (p.Ile351Val) GRCh37: Chr2:190428661 GRCh38: Chr2:189563935	SLC40A1	I351V	Hemochromatosis type 4	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 136494342.	NM_014585.6(SLC40A1):c.1602C>A (p.Gly534=) GRCh37: Chr2:190426718 GRCh38: Chr2:189561992	SLC40A1		Hemochromatosis type 4	Likely benign (Jan 18, 2022)	criteria provided, single submitter
Select item 133314043.	NM_014585.6(SLC40A1):c.388-38C>T GRCh37: Chr2:190436605 GRCh38: Chr2:189571879	SLC40A1		Hemochromatosis type 4	Benign (Jul 15, 2021)	criteria provided, single submitter
Select item 120985444.	NM_014585.6(SLC40A1):c.1263_1264insGTGAGATTGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTCAATTACACCTACC (p.Lys422delinsValArgLeuThrArgThrValTer) GRCh37: Chr2:190428448-190428449 GRCh38: Chr2:189563722-189563723	SLC40A1		Hemochromatosis type 4	Likely pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 120985345.	NM_014585.6(SLC40A1):c.1250_1251insGACAAGAACAGTTTGACAGTCAGAAGGTGCCACAAATCCTGCATTCAAGGAGAGTC (p.Ser417_Ile418insThrArgThrValTer) GRCh37: Chr2:190428461-190428462 GRCh38: Chr2:189563735-189563736	SLC40A1		Hemochromatosis type 4	Likely pathogenic (Feb 1, 2021)	criteria provided, single submitter
Select item 116601646.	NM_014585.6(SLC40A1):c.44-24G>C GRCh37: Chr2:190444630 GRCh38: Chr2:189579904	SLC40A1		not provided, Hemochromatosis type 4	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115743247.	NM_014585.6(SLC40A1):c.515-9C>T GRCh37: Chr2:190430334 GRCh38: Chr2:189565608	SLC40A1		Hemochromatosis type 4	Likely benign (Sep 12, 2021)	criteria provided, single submitter
Select item 113926748.	NM_014585.6(SLC40A1):c.1371G>A (p.Leu457=) GRCh37: Chr2:190428341 GRCh38: Chr2:189563615	SLC40A1		Hemochromatosis type 4	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 113811249.	NM_014585.6(SLC40A1):c.1131A>C (p.Gly377=) GRCh37: Chr2:190428581 GRCh38: Chr2:189563855	SLC40A1		Hemochromatosis type 4	Likely benign (Jul 16, 2019)	criteria provided, single submitter
Select item 113433050.	NM_014585.6(SLC40A1):c.1256C>T (p.Thr419Ile) GRCh37: Chr2:190428456 GRCh38: Chr2:189563730	SLC40A1	T419I	Hemochromatosis type 4	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 111578851.	NM_014585.6(SLC40A1):c.396C>T (p.Cys132=) GRCh37: Chr2:190436559 GRCh38: Chr2:189571833	SLC40A1		Hemochromatosis type 4	Likely benign (Aug 29, 2020)	criteria provided, single submitter
Select item 111577852.	NM_014585.6(SLC40A1):c.138G>A (p.Val46=) GRCh37: Chr2:190440020 GRCh38: Chr2:189575294	SLC40A1		Hemochromatosis type 4	Likely benign (May 30, 2019)	criteria provided, single submitter
Select item 111447453.	NM_014585.6(SLC40A1):c.327C>A (p.Ile109=) GRCh37: Chr2:190437632 GRCh38: Chr2:189572906	SLC40A1		Hemochromatosis type 4	Likely benign (Dec 3, 2019)	criteria provided, single submitter
Select item 111045054.	NM_014585.6(SLC40A1):c.877C>T (p.Arg293Cys) GRCh37: Chr2:190428835 GRCh38: Chr2:189564109	SLC40A1	R293C	Hemochromatosis type 4, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 10, 2023)	criteria provided, conflicting interpretations
Select item 110007355.	NM_014585.6(SLC40A1):c.72A>G (p.Ala24=) GRCh37: Chr2:190444578 GRCh38: Chr2:189579852	SLC40A1		Hemochromatosis type 4	Likely benign (Apr 16, 2019)	criteria provided, single submitter
Select item 109232456.	NM_014585.6(SLC40A1):c.825G>A (p.Glu275=) GRCh37: Chr2:190428887 GRCh38: Chr2:189564161	SLC40A1		Hemochromatosis type 4	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 108311157.	NM_014585.6(SLC40A1):c.44-4G>T GRCh37: Chr2:190444610 GRCh38: Chr2:189579884	SLC40A1		Hemochromatosis type 4	Likely benign (Feb 12, 2022)	criteria provided, single submitter
Select item 108009758.	NM_014585.6(SLC40A1):c.12G>A (p.Ala4=) GRCh37: Chr2:190445175 GRCh38: Chr2:189580449	SLC40A1		Hemochromatosis type 4	Likely benign (Feb 8, 2020)	criteria provided, single submitter
Select item 105621759.	NM_014585.6(SLC40A1):c.478G>T (p.Val160Phe) GRCh37: Chr2:190436477 GRCh38: Chr2:189571751	SLC40A1	V160F	Hemochromatosis type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103585160.	NM_014585.6(SLC40A1):c.1402+4A>G GRCh37: Chr2:190428306 GRCh38: Chr2:189563580	SLC40A1		Hemochromatosis type 4	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 103469661.	NM_014585.6(SLC40A1):c.5C>G (p.Thr2Ser) GRCh37: Chr2:190445182 GRCh38: Chr2:189580456	SLC40A1	T2S	Hemochromatosis type 4	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 101729062.	NM_014585.6(SLC40A1):c.44-2A>G GRCh37: Chr2:190444608 GRCh38: Chr2:189579882	SLC40A1		Hemochromatosis type 4	Uncertain significance (Aug 30, 2020)	criteria provided, single submitter
Select item 101617363.	NM_014585.6(SLC40A1):c.1402G>A (p.Gly468Ser) GRCh37: Chr2:190428310 GRCh38: Chr2:189563584	SLC40A1	G468S	Hemochromatosis type 4	Uncertain significance (Jul 21, 2020)	criteria provided, single submitter
Select item 98633564.	NM_014585.6(SLC40A1):c.1502A>G (p.Tyr501Cys) GRCh37: Chr2:190426818 GRCh38: Chr2:189562092	SLC40A1	Y501C	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98633465.	NM_014585.6(SLC40A1):c.1468G>A (p.Gly490Ser) GRCh37: Chr2:190426852 GRCh38: Chr2:189562126	SLC40A1	G490S	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	criteria provided, single submitter
Select item 98633366.	NM_014585.6(SLC40A1):c.968G>A (p.Gly323Asp) GRCh37: Chr2:190428744 GRCh38: Chr2:189564018	SLC40A1	G323D	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98633267.	NM_014585.6(SLC40A1):c.698T>C (p.Leu233Pro) GRCh37: Chr2:190430142 GRCh38: Chr2:189565416	SLC40A1	L233P	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	criteria provided, single submitter
Select item 98633168.	NM_014585.6(SLC40A1):c.689C>A (p.Thr230Asn) GRCh37: Chr2:190430151 GRCh38: Chr2:189565425	SLC40A1	T230N	Hemochromatosis type 4	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 98633069.	NM_014585.6(SLC40A1):c.679T>G (p.Tyr227Asp) GRCh37: Chr2:190430161 GRCh38: Chr2:189565435	SLC40A1	Y227D	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632970.	NM_014585.6(SLC40A1):c.616G>C (p.Gly206Arg) GRCh37: Chr2:190430224 GRCh38: Chr2:189565498	SLC40A1	G206R	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632871.	NM_014585.6(SLC40A1):c.611G>T (p.Gly204Val) GRCh37: Chr2:190430229 GRCh38: Chr2:189565503	SLC40A1	G204V	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632772.	NM_014585.6(SLC40A1):c.554A>C (p.Asn185Thr) GRCh37: Chr2:190430286 GRCh38: Chr2:189565560	SLC40A1	N185T	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	criteria provided, single submitter
Select item 98632673.	NM_014585.6(SLC40A1):c.536G>C (p.Arg179Thr) GRCh37: Chr2:190430304 GRCh38: Chr2:189565578	SLC40A1	R179T	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632574.	NM_014585.6(SLC40A1):c.442A>G (p.Thr148Ala) GRCh37: Chr2:190436513 GRCh38: Chr2:189571787	SLC40A1	T148A	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632475.	NM_014585.6(SLC40A1):c.238G>A (p.Gly80Ser) GRCh37: Chr2:190439920 GRCh38: Chr2:189575194	SLC40A1	G80S	Hemochromatosis type 4	Pathogenic/Likely pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98632376.	NM_014585.6(SLC40A1):c.212C>T (p.Ser71Phe) GRCh37: Chr2:190439946 GRCh38: Chr2:189575220	SLC40A1	S71F	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	criteria provided, single submitter
Select item 98632277.	NM_014585.6(SLC40A1):c.188T>C (p.Val63Ala) GRCh37: Chr2:190439970 GRCh38: Chr2:189575244	SLC40A1	V63A	Hemochromatosis type 4	Likely pathogenic (Jul 1, 2020)	no assertion criteria provided
Select item 98632178.	NM_014585.6(SLC40A1):c.1151T>G (p.Leu384Trp) GRCh37: Chr2:190428561 GRCh38: Chr2:189563835	SLC40A1	L384W	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98632079.	NM_014585.6(SLC40A1):c.1049C>T (p.Ala350Val) GRCh37: Chr2:190428663 GRCh38: Chr2:189563937	SLC40A1	A350V	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98631980.	NM_014585.6(SLC40A1):c.1048G>A (p.Ala350Thr) GRCh37: Chr2:190428664 GRCh38: Chr2:189563938	SLC40A1	A350T	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98631881.	NM_014585.6(SLC40A1):c.1035G>C (p.Leu345Phe) GRCh37: Chr2:190428677 GRCh38: Chr2:189563951	SLC40A1	L345F	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98631782.	NM_014585.6(SLC40A1):c.517A>G (p.Met173Val) GRCh37: Chr2:190430323 GRCh38: Chr2:189565597	SLC40A1	M173V	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98631683.	NM_014585.6(SLC40A1):c.306A>G (p.Ser102=) GRCh37: Chr2:190437653 GRCh38: Chr2:189572927	SLC40A1		Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 98631584.	NM_014585.6(SLC40A1):c.134C>A (p.Ala45Glu) GRCh37: Chr2:190440024 GRCh38: Chr2:189575298	SLC40A1	A45E	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	criteria provided, single submitter
Select item 98631485.	NM_014585.6(SLC40A1):c.140C>T (p.Ser47Phe) GRCh37: Chr2:190440018 GRCh38: Chr2:189575292	SLC40A1	S47F	Hemochromatosis type 4	Uncertain significance (Jul 1, 2020)	no assertion criteria provided
Select item 95619086.	NM_014585.6(SLC40A1):c.190T>C (p.Tyr64His) GRCh37: Chr2:190439968 GRCh38: Chr2:189575242	SLC40A1	Y64H	Hemochromatosis type 4	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 95148987.	NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu) GRCh37: Chr2:190430214 GRCh38: Chr2:189565488	SLC40A1	S209L	Hemochromatosis type 4	Pathogenic/Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94161488.	NM_014585.6(SLC40A1):c.373C>A (p.His125Asn) GRCh37: Chr2:190437586 GRCh38: Chr2:189572860	SLC40A1	H125N	Hemochromatosis type 4	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 93698489.	NM_014585.6(SLC40A1):c.521A>G (p.Asn174Ser) GRCh37: Chr2:190430319 GRCh38: Chr2:189565593	SLC40A1	N174S	Hemochromatosis type 4	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 91739890.	NM_014585.6(SLC40A1):c.1592T>C (p.Val531Ala) GRCh37: Chr2:190426728 GRCh38: Chr2:189562002	SLC40A1	V531A	Hemochromatosis type 4	Pathogenic (Mar 12, 2019)	no assertion criteria provided
Select item 91739791.	NM_014585.6(SLC40A1):c.697C>G (p.Leu233Val) GRCh37: Chr2:190430143 GRCh38: Chr2:189565417	SLC40A1	L233V	Hemochromatosis type 4	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 89832592.	NM_014585.6(SLC40A1):c.1035G>A (p.Leu345=) GRCh37: Chr2:190428677 GRCh38: Chr2:189563951	SLC40A1		Hemochromatosis type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89832493.	NM_014585.6(SLC40A1):c.1357A>T (p.Ile453Phe) GRCh37: Chr2:190428355 GRCh38: Chr2:189563629	SLC40A1	I453F	Hemochromatosis type 4	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 89723794.	NM_014585.6(SLC40A1):c.-147A>G GRCh37: Chr2:190445333 GRCh38: Chr2:189580607	SLC40A1		Hemochromatosis type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89723695.	NM_014585.6(SLC40A1):c.-28A>T GRCh37: Chr2:190445214 GRCh38: Chr2:189580488	SLC40A1		Hemochromatosis type 4	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89715896.	NM_014585.6(SLC40A1):c.*128A>G GRCh37: Chr2:190426476 GRCh38: Chr2:189561750	SLC40A1		Hemochromatosis type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89675997.	NM_014585.6(SLC40A1):c.92G>A (p.Gly31Asp) GRCh37: Chr2:190444558 GRCh38: Chr2:189579832	SLC40A1	G31D	Hemochromatosis type 4	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89675898.	NM_014585.6(SLC40A1):c.235A>G (p.Ile79Val) GRCh37: Chr2:190439923 GRCh38: Chr2:189575197	SLC40A1	I79V	Hemochromatosis type 4	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89675799.	NM_014585.6(SLC40A1):c.272-14C>T GRCh37: Chr2:190437701 GRCh38: Chr2:189572975	SLC40A1		Hemochromatosis type 4	Conflicting interpretations of pathogenicity (Aug 9, 2022)	criteria provided, conflicting interpretations
Select item 896704100.	NM_014585.6(SLC40A1):c.*833T>C GRCh37: Chr2:190425771 GRCh38: Chr2:189561045	SLC40A1		Hemochromatosis type 4	Benign (Jun 16, 2017)	criteria provided, single submitter

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