ClinVar for MedGen (Select 78540) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18061341.	NM_002472.3(MYH8):c.2172-4G>T GRCh37: Chr17:10309718 GRCh38: Chr17:10406401	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 9830642.	NM_002472.3(MYH8):c.797T>C (p.Ile266Thr) GRCh37: Chr17:10318441 GRCh38: Chr17:10415124	MYHAS, MYH8	I266T	Hecht syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 8885653.	NM_002472.3(MYH8):c.*19A>G GRCh37: Chr17:10293752 GRCh38: Chr17:10390435	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8885644.	NM_002472.3(MYH8):c.*33G>C GRCh37: Chr17:10293738 GRCh38: Chr17:10390421	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876835.	NM_002472.3(MYH8):c.254C>T (p.Pro85Leu) GRCh37: Chr17:10322304 GRCh38: Chr17:10418987	MYH8, MYHAS	P85L	Hecht syndrome, Inborn genetic diseases	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8876826.	NM_002472.3(MYH8):c.277A>G (p.Met93Val) GRCh37: Chr17:10322281 GRCh38: Chr17:10418964	MYH8, MYHAS	M93V	Hecht syndrome, not provided, Inborn genetic diseases	Uncertain significance (Dec 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8876817.	NM_002472.3(MYH8):c.304C>G (p.Pro102Ala) GRCh37: Chr17:10322254 GRCh38: Chr17:10418937	MYH8, MYHAS	P102A	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8876808.	NM_002472.3(MYH8):c.399G>T (p.Trp133Cys) GRCh37: Chr17:10322074 GRCh38: Chr17:10418757	MYHAS, MYH8	W133C	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8876259.	NM_002472.3(MYH8):c.1803G>T (p.Lys601Asn) GRCh37: Chr17:10312690 GRCh38: Chr17:10409373	MYH8, MYHAS	K601N	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88762410.	NM_002472.3(MYH8):c.1899T>C (p.Asp633=) GRCh37: Chr17:10312480 GRCh38: Chr17:10409163	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88756411.	NM_002472.3(MYH8):c.3918G>A (p.Arg1306=) GRCh37: Chr17:10302148 GRCh38: Chr17:10398831	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88756312.	NM_002472.3(MYH8):c.4147A>G (p.Ile1383Val) GRCh37: Chr17:10301792 GRCh38: Chr17:10398475	MYH8, MYHAS	I1383V	Hecht syndrome, Inborn genetic diseases	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88749813.	NM_002472.3(MYH8):c.676G>A (p.Ala226Thr) GRCh37: Chr17:10318674 GRCh38: Chr17:10415357	MYH8, MYHAS	A226T	not provided, Hecht syndrome	Conflicting interpretations of pathogenicity (Apr 19, 2021)	criteria provided, conflicting interpretations
Select item 88749714.	NM_002472.3(MYH8):c.851G>T (p.Arg284Ile) GRCh37: Chr17:10317756 GRCh38: Chr17:10414439	MYH8, MYHAS	R284I	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88743815.	NM_002472.3(MYH8):c.2317C>T (p.Leu773=) GRCh37: Chr17:10309473 GRCh38: Chr17:10406156	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88743716.	NM_002472.3(MYH8):c.2439A>G (p.Ala813=) GRCh37: Chr17:10307896 GRCh38: Chr17:10404579	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88743617.	NM_002472.3(MYH8):c.3151C>G (p.Leu1051Val) GRCh37: Chr17:10304466 GRCh38: Chr17:10401149	LOC126862494, MYH8, MYHAS	L1051V	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88736718.	NM_002472.3(MYH8):c.4878T>C (p.Asn1626=) GRCh37: Chr17:10298534 GRCh38: Chr17:10395217	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88643219.	NM_002472.3(MYH8):c.3408G>A (p.Glu1136=) GRCh37: Chr17:10304034 GRCh38: Chr17:10400717	MYHAS, LOC126862494, MYH8		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88643120.	NM_002472.3(MYH8):c.3423C>T (p.Asp1141=) GRCh37: Chr17:10304019 GRCh38: Chr17:10400702	MYH8, MYHAS, LOC126862494		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88637321.	NM_002472.3(MYH8):c.5025A>G (p.Ala1675=) GRCh37: Chr17:10297707 GRCh38: Chr17:10394390	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88637222.	NM_002472.3(MYH8):c.5112C>A (p.Ile1704=) GRCh37: Chr17:10297620 GRCh38: Chr17:10394303	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88637123.	NM_002472.3(MYH8):c.5115C>T (p.Ala1705=) GRCh37: Chr17:10297617 GRCh38: Chr17:10394300	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88637024.	NM_002472.3(MYH8):c.5194A>G (p.Lys1732Glu) GRCh37: Chr17:10296500 GRCh38: Chr17:10393183	MYH8, MYHAS	K1732E	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88547225.	NM_002472.3(MYH8):c.-93T>G GRCh37: Chr17:10325265 GRCh38: Chr17:10421948	MYH8, MYHAS		Hecht syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 88541326.	NM_002472.3(MYH8):c.959A>T (p.Glu320Val) GRCh37: Chr17:10317558 GRCh38: Chr17:10414241	MYH8, MYHAS	E320V	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88541227.	NM_002472.3(MYH8):c.1034C>G (p.Thr345Ser) GRCh37: Chr17:10317332 GRCh38: Chr17:10414015	MYH8, MYHAS	T345S	Hecht syndrome, Inborn genetic diseases	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88541128.	NM_002472.3(MYH8):c.1054A>C (p.Ile352Leu) GRCh37: Chr17:10317312 GRCh38: Chr17:10413995	MYH8, MYHAS	I352L	Hecht syndrome, Inborn genetic diseases	Uncertain significance (Jun 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 88541029.	NM_002472.3(MYH8):c.1147+14C>G GRCh37: Chr17:10317205 GRCh38: Chr17:10413888	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88453830.	NM_002472.3(MYH8):c.-31+9T>C GRCh37: Chr17:10324971 GRCh38: Chr17:10421654	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88453731.	NM_002472.3(MYH8):c.59G>A (p.Arg20Gln) GRCh37: Chr17:10323486 GRCh38: Chr17:10420169	MYH8, MYHAS	R20Q	Inborn genetic diseases, not provided, Hecht syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88453632.	NM_002472.3(MYH8):c.76C>A (p.Arg26=) GRCh37: Chr17:10323469 GRCh38: Chr17:10420152	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88453533.	NM_002472.3(MYH8):c.172G>C (p.Glu58Gln) GRCh37: Chr17:10323373 GRCh38: Chr17:10420056	MYH8, MYHAS	E58Q	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88447434.	NM_002472.3(MYH8):c.1150G>A (p.Ala384Thr) GRCh37: Chr17:10316043 GRCh38: Chr17:10412726	MYH8, MYHAS	A384T	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88447335.	NM_002472.3(MYH8):c.1583A>G (p.Glu528Gly) GRCh37: Chr17:10314098 GRCh38: Chr17:10410781	MYH8, MYHAS	E528G	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88447236.	NM_002472.3(MYH8):c.1587+4G>A GRCh37: Chr17:10314090 GRCh38: Chr17:10410773	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88441037.	NM_002472.3(MYH8):c.3469G>A (p.Gly1157Ser) GRCh37: Chr17:10303973 GRCh38: Chr17:10400656	LOC126862494, MYH8, MYHAS	G1157S	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88440938.	NM_002472.3(MYH8):c.3643C>A (p.Arg1215=) GRCh37: Chr17:10303799 GRCh38: Chr17:10400482	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88440839.	NM_002472.3(MYH8):c.3680T>G (p.Leu1227Arg) GRCh37: Chr17:10303762 GRCh38: Chr17:10400445	MYH8, MYHAS	L1227R	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88440740.	NM_002472.3(MYH8):c.3754T>C (p.Cys1252Arg) GRCh37: Chr17:10302968 GRCh38: Chr17:10399651	MYH8, MYHAS	C1252R	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88435141.	NM_002472.3(MYH8):c.5543G>A (p.Arg1848Gln) GRCh37: Chr17:10295884 GRCh38: Chr17:10392567	LOC126862493, MYH8, MYHAS	R1848Q	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 79032942.	NM_002472.3(MYH8):c.1318C>T (p.Leu440=) GRCh37: Chr17:10315785 GRCh38: Chr17:10412468	MYH8, MYHAS		Hecht syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 78555443.	NM_002472.3(MYH8):c.5459C>T (p.Ala1820Val) GRCh37: Chr17:10296152 GRCh38: Chr17:10392835	LOC126862493, MYH8, MYHAS	A1820V	not provided, Hecht syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 78377344.	NM_002472.3(MYH8):c.143C>T (p.Ser48Phe) GRCh37: Chr17:10323402 GRCh38: Chr17:10420085	MYH8, MYHAS	S48F	not provided, Hecht syndrome	Conflicting interpretations of pathogenicity (Aug 1, 2022)	criteria provided, conflicting interpretations
Select item 77510945.	NM_002472.3(MYH8):c.1632T>C (p.Pro544=) GRCh37: Chr17:10312861 GRCh38: Chr17:10409544	MYH8, MYHAS		Hecht syndrome, Carney complex - trismus - pseudocamptodactyly syndrome, Hecht syndrome, not provided	Benign/Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76942946.	NM_002472.3(MYH8):c.4813G>A (p.Asp1605Asn) GRCh37: Chr17:10298599 GRCh38: Chr17:10395282	MYH8, MYHAS	D1605N	not provided, Hecht syndrome	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 75056647.	NM_002472.3(MYH8):c.1815T>A (p.Asn605Lys) GRCh37: Chr17:10312678 GRCh38: Chr17:10409361	MYHAS, MYH8	N605K	not provided, Hecht syndrome	Benign/Likely benign (Jun 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 73919948.	NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) GRCh37: Chr17:10321994 GRCh38: Chr17:10418677	MYH8, MYHAS	I160N	not provided, Carney complex - trismus - pseudocamptodactyly syndrome, Hecht syndrome	Likely benign (Nov 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 73625249.	NM_002472.3(MYH8):c.954G>C (p.Gln318His) GRCh37: Chr17:10317563 GRCh38: Chr17:10414246	MYH8, MYHAS	Q318H	Hecht syndrome, not provided	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 72038950.	NM_002472.3(MYH8):c.4499C>T (p.Thr1500Met) GRCh37: Chr17:10299899 GRCh38: Chr17:10396582	MYH8, MYHAS	T1500M	not provided, Hecht syndrome	Benign/Likely benign (Oct 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 63458351.	NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) GRCh37: Chr17:10317540 GRCh38: Chr17:10414223	MYH8, MYHAS	I326T	Carney complex - trismus - pseudocamptodactyly syndrome, Arthrogryposis, distal, type 1A, Hecht syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 63226752.	NM_002472.3(MYH8):c.3735+2T>A GRCh37: Chr17:10303705 GRCh38: Chr17:10400388	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Dec 16, 2018)	criteria provided, single submitter
Select item 63176553.	NM_002472.3(MYH8):c.1432C>T (p.Gln478Ter) GRCh37: Chr17:10314249 GRCh38: Chr17:10410932	MYH8, MYHAS	Q478*	Hecht syndrome	Uncertain significance (Nov 30, 2018)	criteria provided, single submitter
Select item 63176454.	NM_002472.3(MYH8):c.1486_1487del (p.Met496fs) GRCh37: Chr17:10314194-10314195 GRCh38: Chr17:10410877-10410878	MYH8, MYHAS	M496fs	Hecht syndrome	Uncertain significance (Nov 30, 2018)	criteria provided, single submitter
Select item 63176355.	NM_002472.3(MYH8):c.1973T>A (p.Leu658Ter) GRCh37: Chr17:10310289 GRCh38: Chr17:10406972	MYH8, MYHAS	L658*	Hecht syndrome	Uncertain significance (Dec 10, 2018)	criteria provided, single submitter
Select item 44551256.	NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) GRCh37: Chr17:10295914 GRCh38: Chr17:10392597	LOC126862493, MYH8, MYHAS	E1838A	Hecht syndrome, not provided	Benign/Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 39764657.	NM_002472.3(MYH8):c.3320del (p.Leu1107fs) GRCh37: Chr17:10304211 GRCh38: Chr17:10400894	LOC126862494, MYH8, MYHAS	L1107fs	not provided, Carney complex - trismus - pseudocamptodactyly syndrome, Hecht syndrome	Conflicting interpretations of pathogenicity (Aug 29, 2019)	criteria provided, conflicting interpretations
Select item 32166058.	NM_002472.3(MYH8):c.-65C>T GRCh37: Chr17:10325014 GRCh38: Chr17:10421697	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32165959.	NM_002472.3(MYH8):c.-31G>A GRCh37: Chr17:10324980 GRCh38: Chr17:10421663	MYH8, MYHAS		Hecht syndrome	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 32165860.	NM_002472.3(MYH8):c.-7C>T GRCh37: Chr17:10323551 GRCh38: Chr17:10420234	MYHAS, MYH8		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32165761.	NM_002472.3(MYH8):c.203G>T (p.Gly68Val) GRCh37: Chr17:10323342 GRCh38: Chr17:10420025	MYH8, MYHAS	G68V	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32165662.	NM_002472.3(MYH8):c.501C>T (p.Phe167=) GRCh37: Chr17:10321972 GRCh38: Chr17:10418655	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32165563.	NM_002472.3(MYH8):c.578G>A (p.Arg193His) GRCh37: Chr17:10318859 GRCh38: Chr17:10415542	MYH8, MYHAS	R193H	Hecht syndrome, not provided, not specified	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 32165464.	NM_002472.3(MYH8):c.605C>T (p.Ala202Val) GRCh37: Chr17:10318832 GRCh38: Chr17:10415515	MYHAS, MYH8	A202V	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32165365.	NM_002472.3(MYH8):c.675C>T (p.Ser225=) GRCh37: Chr17:10318675 GRCh38: Chr17:10415358	MYH8, MYHAS		not provided, Hecht syndrome	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32165266.	NM_002472.3(MYH8):c.840A>G (p.Leu280=) GRCh37: Chr17:10317767 GRCh38: Chr17:10414450	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 32165167.	NM_002472.3(MYH8):c.846G>A (p.Ala282=) GRCh37: Chr17:10317761 GRCh38: Chr17:10414444	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32165068.	NM_002472.3(MYH8):c.1009-4G>A GRCh37: Chr17:10317361 GRCh38: Chr17:10414044	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32164969.	NM_002472.3(MYH8):c.1067C>T (p.Thr356Ile) GRCh37: Chr17:10317299 GRCh38: Chr17:10413982	MYH8, MYHAS	T356I	Inborn genetic diseases, Hecht syndrome	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32164870.	NM_002472.3(MYH8):c.1268T>G (p.Val423Gly) GRCh37: Chr17:10315835 GRCh38: Chr17:10412518	MYH8, MYHAS	V423G	not provided, Hecht syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 32164771.	NM_002472.3(MYH8):c.1416+11T>G GRCh37: Chr17:10315676 GRCh38: Chr17:10412359	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32164672.	NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) GRCh37: Chr17:10312762 GRCh38: Chr17:10409445	MYH8, MYHAS	E577D	not provided, Hecht syndrome	Benign/Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32164573.	NM_002472.3(MYH8):c.1833G>A (p.Leu611=) GRCh37: Chr17:10312660 GRCh38: Chr17:10409343	MYH8, MYHAS		Hecht syndrome, not provided	Conflicting interpretations of pathogenicity (May 1, 2022)	criteria provided, conflicting interpretations
Select item 32164474.	NM_002472.3(MYH8):c.1989G>A (p.Thr663=) GRCh37: Chr17:10310273 GRCh38: Chr17:10406956	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32164375.	NM_002472.3(MYH8):c.2117G>A (p.Arg706His) GRCh37: Chr17:10310061 GRCh38: Chr17:10406744	MYH8, MYHAS	R706H	Hecht syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32164276.	NM_002472.3(MYH8):c.2791G>A (p.Glu931Lys) GRCh37: Chr17:10305000 GRCh38: Chr17:10401683	LOC126862494, MYH8, MYHAS	E931K	Hecht syndrome, Inborn genetic diseases	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 32164177.	NM_002472.3(MYH8):c.2987C>G (p.Ser996Cys) GRCh37: Chr17:10304713 GRCh38: Chr17:10401396	LOC126862494, MYH8, MYHAS	S996C	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32164078.	NM_002472.3(MYH8):c.3254+8C>A GRCh37: Chr17:10304355 GRCh38: Chr17:10401038	LOC126862494, MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163979.	NM_002472.3(MYH8):c.3255-8G>A GRCh37: Chr17:10304284 GRCh38: Chr17:10400967	LOC126862494, MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32163880.	NM_002472.3(MYH8):c.3340T>C (p.Leu1114=) GRCh37: Chr17:10304191 GRCh38: Chr17:10400874	LOC126862494, MYH8, MYHAS		Hecht syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 13, 2018)	criteria provided, conflicting interpretations
Select item 32163781.	NM_002472.3(MYH8):c.3376G>C (p.Glu1126Gln) GRCh37: Chr17:10304066 GRCh38: Chr17:10400749	LOC126862494, MYHAS, MYH8	E1126Q	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32163682.	NM_002472.3(MYH8):c.3388G>T (p.Ala1130Ser) GRCh37: Chr17:10304054 GRCh38: Chr17:10400737	MYH8, MYHAS, LOC126862494	A1130S	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163583.	NM_002472.3(MYH8):c.3550G>A (p.Ala1184Thr) GRCh37: Chr17:10303892 GRCh38: Chr17:10400575	LOC126862494, MYH8, MYHAS	A1184T	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163484.	NM_002472.3(MYH8):c.3703A>G (p.Ser1235Gly) GRCh37: Chr17:10303739 GRCh38: Chr17:10400422	MYH8, MYHAS	S1235G	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163385.	NM_002472.3(MYH8):c.4003G>A (p.Ala1335Thr) GRCh37: Chr17:10301936 GRCh38: Chr17:10398619	MYH8, MYHAS	A1335T	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163286.	NM_002472.3(MYH8):c.4249C>G (p.Leu1417Val) GRCh37: Chr17:10300233 GRCh38: Chr17:10396916	MYH8, MYHAS	L1417V	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163187.	NM_002472.3(MYH8):c.4433G>A (p.Arg1478His) GRCh37: Chr17:10299965 GRCh38: Chr17:10396648	MYH8, MYHAS	R1478H	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32163088.	NM_002472.3(MYH8):c.4688G>A (p.Arg1563His) GRCh37: Chr17:10298724 GRCh38: Chr17:10395407	MYH8, MYHAS	R1563H	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32162989.	NM_002472.3(MYH8):c.4692C>A (p.Ile1564=) GRCh37: Chr17:10298720 GRCh38: Chr17:10395403	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32162890.	NM_002472.3(MYH8):c.4738G>A (p.Ala1580Thr) GRCh37: Chr17:10298674 GRCh38: Chr17:10395357	MYH8, MYHAS	A1580T	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32162791.	NM_002472.3(MYH8):c.4784G>A (p.Arg1595Lys) GRCh37: Chr17:10298628 GRCh38: Chr17:10395311	MYH8, MYHAS	R1595K	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32162692.	NM_002472.3(MYH8):c.4910G>A (p.Arg1637His) GRCh37: Chr17:10298502 GRCh38: Chr17:10395185	MYH8, MYHAS	R1637H	Hecht syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 32162593.	NM_002472.3(MYH8):c.4994G>A (p.Arg1665Gln) GRCh37: Chr17:10297738 GRCh38: Chr17:10394421	MYH8, MYHAS	R1665Q	Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32162494.	NM_002472.3(MYH8):c.5166+14A>G GRCh37: Chr17:10297552 GRCh38: Chr17:10394235	MYH8, MYHAS		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32162395.	NM_002472.3(MYH8):c.5435A>G (p.Lys1812Arg) GRCh37: Chr17:10296176 GRCh38: Chr17:10392859	LOC126862493, MYH8, MYHAS	K1812R	Hecht syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 32162296.	NM_002472.3(MYH8):c.5539G>A (p.Glu1847Lys) GRCh37: Chr17:10295888 GRCh38: Chr17:10392571	LOC126862493, MYH8, MYHAS	E1847K	not provided, Inborn genetic diseases, Hecht syndrome	Conflicting interpretations of pathogenicity (Jun 5, 2023)	criteria provided, conflicting interpretations
Select item 32162197.	NM_002472.3(MYH8):c.5736G>C (p.Arg1912=) GRCh37: Chr17:10293849 GRCh38: Chr17:10390532	MYHAS, MYH8		Hecht syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 32162098.	NM_002472.3(MYH8):c.*72T>C GRCh37: Chr17:10293699 GRCh38: Chr17:10390382	MYH8, MYHAS		Hecht syndrome, not provided	Likely benign (Oct 28, 2019)	criteria provided, multiple submitters, no conflicts
Select item 32161999.	NM_002472.3(MYH8):c.*76G>C GRCh37: Chr17:10293695 GRCh38: Chr17:10390378	MYH8, MYHAS		Hecht syndrome, not provided	Likely benign (Sep 4, 2019)	criteria provided, multiple submitters, no conflicts
Select item 258722100.	NM_002472.3(MYH8):c.5464G>A (p.Val1822Ile) GRCh37: Chr17:10295963 GRCh38: Chr17:10392646	MYHAS, LOC126862493, MYH8	V1822I	not specified, not provided, Hecht syndrome	Benign/Likely benign (Feb 3, 2021)	criteria provided, multiple submitters, no conflicts

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