ClinVar for MedGen (Select 318679) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 21550021.	NM_022369.4(STRA6):c.928-17C>T GRCh37: Chr15:74481635 GRCh38: Chr15:74189294	STRA6		Matthew-Wood syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 20861152.	NM_022369.4(STRA6):c.160G>T (p.Ala54Ser) GRCh37: Chr15:74490113 GRCh38: Chr15:74197772	STRA6	A54S, A93S, A69S, A91S	Matthew-Wood syndrome, Inborn genetic diseases	Uncertain significance (Jun 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 20854853.	NM_022369.4(STRA6):c.1035C>T (p.Ser345=) GRCh37: Chr15:74481511 GRCh38: Chr15:74189170	STRA6		Matthew-Wood syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 20516014.	NM_022369.4(STRA6):c.794A>T (p.His265Leu) GRCh37: Chr15:74483579 GRCh38: Chr15:74191238	STRA6	H280L, H304L, H256L, H265L, H302L	Matthew-Wood syndrome	Benign (Dec 20, 2021)	criteria provided, single submitter
Select item 20415845.	NM_022369.4(STRA6):c.65G>C (p.Ser22Thr) GRCh37: Chr15:74494544 GRCh38: Chr15:74202203	STRA6	S22T, S37T, S61T, S59T	Matthew-Wood syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 19708736.	NM_022369.4(STRA6):c.267-1G>T GRCh37: Chr15:74488489 GRCh38: Chr15:74196148	STRA6		Matthew-Wood syndrome	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 19642317.	NM_022369.4(STRA6):c.1167-18C>T GRCh37: Chr15:74476348 GRCh38: Chr15:74184007	STRA6		Matthew-Wood syndrome	Benign (Sep 29, 2022)	criteria provided, single submitter
Select item 16792218.	NM_022369.4(STRA6):c.1595G>T (p.Arg532Leu) GRCh37: Chr15:74473725 GRCh38: Chr15:74181384	STRA6	R523L, R532L, R547L, R569L, R571L	Matthew-Wood syndrome	Uncertain significance (Aug 1, 2021)	criteria provided, single submitter
Select item 16258919.	NM_022369.4(STRA6):c.1418+18T>G GRCh37: Chr15:74474666 GRCh38: Chr15:74182325	STRA6		Matthew-Wood syndrome	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 159688010.	NM_022369.4(STRA6):c.1419-11C>T GRCh37: Chr15:74474614 GRCh38: Chr15:74182273	STRA6		Matthew-Wood syndrome	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 159324211.	NM_022369.4(STRA6):c.1300+18G>A GRCh37: Chr15:74476179 GRCh38: Chr15:74183838	STRA6		Matthew-Wood syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 138763812.	NM_022369.4(STRA6):c.985del (p.Val329fs) GRCh37: Chr15:74481561 GRCh38: Chr15:74189220	STRA6	V344fs, V366fs, V368fs, V329fs, V320fs	Matthew-Wood syndrome	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 135371813.	NM_022369.4(STRA6):c.1694C>T (p.Thr565Met) GRCh37: Chr15:74473269 GRCh38: Chr15:74180928	STRA6	T565M, T580M, T604M, T556M, T602M	Inborn genetic diseases, Matthew-Wood syndrome	Uncertain significance (Feb 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133472114.	NM_022369.4(STRA6):c.1594C>T (p.Arg532Ter) GRCh37: Chr15:74473726 GRCh38: Chr15:74181385	STRA6	R523, R532, R547, R569, R571*	not provided, Matthew-Wood syndrome	Pathogenic (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129946215.	NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser) GRCh37: Chr22:46326986 GRCh38: Chr22:45931106	WNT7B	G188S	Matthew-Wood syndrome	Pathogenic (Oct 6, 2021)	no assertion criteria provided
Select item 129946116.	NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter) GRCh37: Chr22:46345873 GRCh38: Chr22:45949993	WNT7B	Y75*	Matthew-Wood syndrome	Pathogenic (Oct 6, 2021)	no assertion criteria provided
Select item 111528817.	NM_022369.4(STRA6):c.480T>G (p.Pro160=) GRCh37: Chr15:74487760 GRCh38: Chr15:74195419	STRA6		Matthew-Wood syndrome	Likely benign (Aug 30, 2019)	criteria provided, single submitter
Select item 106453118.	NM_022369.4(STRA6):c.1285G>C (p.Ala429Pro) GRCh37: Chr15:74476212 GRCh38: Chr15:74183871	STRA6	A420P, A429P, A444P, A466P, A468P	Matthew-Wood syndrome	Likely pathogenic	criteria provided, single submitter
Select item 103080519.	NM_022369.4(STRA6):c.62dup (p.Ser22fs) GRCh37: Chr15:74494546-74494547 GRCh38: Chr15:74202205-74202206	STRA6	S59fs, S22fs, S37fs, S61fs	Matthew-Wood syndrome	Pathogenic (Feb 21, 2019)	criteria provided, single submitter
Select item 100628920.	NM_022369.4(STRA6):c.1520G>A (p.Arg507Gln) GRCh37: Chr15:74474502 GRCh38: Chr15:74182161	STRA6	R498Q, R507Q, R522Q, R544Q, R546Q	Matthew-Wood syndrome	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 98492521.	NM_022369.4(STRA6):c.1301-6T>A GRCh37: Chr15:74474807 GRCh38: Chr15:74182466	STRA6		Matthew-Wood syndrome	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 98492422.	NM_022369.4(STRA6):c.347del (p.Leu116fs) GRCh37: Chr15:74488408 GRCh38: Chr15:74196067	STRA6	L107fs, L116fs, L131fs, L153fs, L155fs	Matthew-Wood syndrome	Pathogenic (Jan 9, 2020)	criteria provided, single submitter
Select item 95942223.	NM_022369.4(STRA6):c.1942A>C (p.Asn648His) GRCh37: Chr15:74472483 GRCh38: Chr15:74180142	STRA6	N639H, N685H, N687H, N648H, N663H	Matthew-Wood syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 95626024.	NM_022369.4(STRA6):c.431-2A>G GRCh37: Chr15:74487811 GRCh38: Chr15:74195470	STRA6		Matthew-Wood syndrome	Likely pathogenic (Aug 30, 2019)	criteria provided, single submitter
Select item 95102725.	NM_022369.4(STRA6):c.1418+1_1418+3del GRCh37: Chr15:74474681-74474683 GRCh38: Chr15:74182340-74182342	STRA6		Matthew-Wood syndrome	Likely pathogenic (May 3, 2019)	criteria provided, single submitter
Select item 93655826.	NM_022369.4(STRA6):c.481del (p.Leu161fs) GRCh37: Chr15:74487759 GRCh38: Chr15:74195418	STRA6	L176fs, L152fs, L161fs, L198fs, L200fs	Matthew-Wood syndrome	Pathogenic (Aug 30, 2019)	criteria provided, single submitter
Select item 93655727.	NM_022369.4(STRA6):c.1871T>C (p.Met624Thr) GRCh37: Chr15:74472554 GRCh38: Chr15:74180213	STRA6	M615T, M639T, M661T, M624T, M663T	Matthew-Wood syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 93491428.	NM_022369.4(STRA6):c.1419-9C>A GRCh37: Chr15:74474612 GRCh38: Chr15:74182271	STRA6		Matthew-Wood syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 93211229.	NM_022369.4(STRA6):c.-15-167G>A GRCh37: Chr15:74494790 GRCh38: Chr15:74202449	STRA6	S24N	Matthew-Wood syndrome	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 93111730.	NM_022369.4(STRA6):c.785G>T (p.Ser262Ile) GRCh37: Chr15:74483768 GRCh38: Chr15:74191427	STRA6	S301I, S277I, S299I, S253I, S262I	Matthew-Wood syndrome	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 91529131.	NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) GRCh37: Chr15:74487802 GRCh38: Chr15:74195461	STRA6	W146, W161, W185, W183, W137*	Matthew-Wood syndrome	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 88802932.	NM_022369.4(STRA6):c.1670C>T (p.Ala557Val) GRCh37: Chr15:74473650 GRCh38: Chr15:74181309	STRA6	A572V, A557V, A594V, A596V, A548V	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88802833.	NM_022369.4(STRA6):c.1685-15G>A GRCh37: Chr15:74473293 GRCh38: Chr15:74180952	STRA6		Matthew-Wood syndrome	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88802734.	NM_022369.4(STRA6):c.1693A>G (p.Thr565Ala) GRCh37: Chr15:74473270 GRCh38: Chr15:74180929	STRA6	T556A, T565A, T604A, T580A, T602A	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88802635.	NM_022369.4(STRA6):c.1803C>T (p.Ala601=) GRCh37: Chr15:74473160 GRCh38: Chr15:74180819	STRA6		Matthew-Wood syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 88796136.	NM_022369.4(STRA6):c.*582T>C GRCh37: Chr15:74471839 GRCh38: Chr15:74179498	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88682837.	NM_022369.4(STRA6):c.608A>G (p.Tyr203Cys) GRCh37: Chr15:74486253 GRCh38: Chr15:74193912	STRA6	Y194C, Y242C, Y203C, Y240C, Y218C	Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88682738.	NM_022369.4(STRA6):c.741T>G (p.Ser247=) GRCh37: Chr15:74483812 GRCh38: Chr15:74191471	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88682639.	NM_022369.4(STRA6):c.945G>A (p.Leu315=) GRCh37: Chr15:74481601 GRCh38: Chr15:74189260	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88675540.	NM_022369.4(STRA6):c.1867T>G (p.Ser623Ala) GRCh37: Chr15:74472558 GRCh38: Chr15:74180217	STRA6	S614A, S638A, S623A, S660A, S662A	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88675441.	NM_022369.4(STRA6):c.*10A>C GRCh37: Chr15:74472411 GRCh38: Chr15:74180070	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88588642.	NM_022369.4(STRA6):c.-83G>A GRCh37: Chr15:74495121 GRCh38: Chr15:74202780	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88582143.	NM_022369.4(STRA6):c.1300+10C>T GRCh37: Chr15:74476187 GRCh38: Chr15:74183846	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88582044.	NM_022369.4(STRA6):c.1301-12C>T GRCh37: Chr15:74474813 GRCh38: Chr15:74182472	STRA6		Matthew-Wood syndrome	Benign/Likely benign (Mar 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88575345.	NM_022369.4(STRA6):c.*72C>T GRCh37: Chr15:74472349 GRCh38: Chr15:74180008	STRA6		Matthew-Wood syndrome	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88575246.	NM_022369.4(STRA6):c.*105G>A GRCh37: Chr15:74472316 GRCh38: Chr15:74179975	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88575147.	NM_022369.4(STRA6):c.*141G>A GRCh37: Chr15:74472280 GRCh38: Chr15:74179939	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88497648.	NM_022369.4(STRA6):c.-28G>C GRCh37: Chr15:74495066 GRCh38: Chr15:74202725	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88497549.	NM_022369.4(STRA6):c.-15-14G>T GRCh37: Chr15:74494637 GRCh38: Chr15:74202296	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88497450.	NM_022369.4(STRA6):c.180A>G (p.Ser60=) GRCh37: Chr15:74490093 GRCh38: Chr15:74197752	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88497351.	NM_022369.4(STRA6):c.181A>T (p.Ile61Phe) GRCh37: Chr15:74489764 GRCh38: Chr15:74197423	STRA6	I98F, I100F, I61F, I76F	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88490352.	NM_022369.4(STRA6):c.1341G>A (p.Thr447=) GRCh37: Chr15:74474761 GRCh38: Chr15:74182420	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88490253.	NM_022369.4(STRA6):c.1377T>C (p.His459=) GRCh37: Chr15:74474725 GRCh38: Chr15:74182384	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88490154.	NM_022369.4(STRA6):c.1519C>T (p.Arg507Trp) GRCh37: Chr15:74474503 GRCh38: Chr15:74182162	STRA6	R546W, R498W, R507W, R522W, R544W	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88490055.	NM_022369.4(STRA6):c.1520+14T>C GRCh37: Chr15:74474488 GRCh38: Chr15:74182147	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88489956.	NM_022369.4(STRA6):c.1565T>G (p.Val522Gly) GRCh37: Chr15:74473755 GRCh38: Chr15:74181414	STRA6	V522G, V537G, V559G, V513G, V561G	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88481957.	NM_022369.4(STRA6):c.*190C>T GRCh37: Chr15:74472231 GRCh38: Chr15:74179890	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88481858.	NM_022369.4(STRA6):c.*368G>C GRCh37: Chr15:74472053 GRCh38: Chr15:74179712	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 80026859.	NM_022369.4(STRA6):c.973G>T (p.Val325Leu) GRCh37: Chr15:74481573 GRCh38: Chr15:74189232	STRA6	V340L, V362L, V325L, V364L, V316L	Inborn genetic diseases, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Nov 10, 2022)	criteria provided, conflicting interpretations
Select item 80026760.	NM_022369.4(STRA6):c.239G>A (p.Cys80Tyr) GRCh37: Chr15:74489706 GRCh38: Chr15:74197365	STRA6	C117Y, C95Y, C119Y, C80Y	Inborn genetic diseases, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Nov 10, 2022)	criteria provided, conflicting interpretations
Select item 80019161.	NM_022369.4(STRA6):c.145C>T (p.Pro49Ser) GRCh37: Chr15:74490128 GRCh38: Chr15:74197787	STRA6	P64S, P86S, P88S, P49S	Matthew-Wood syndrome	Likely benign (Oct 29, 2018)	criteria provided, single submitter
Select item 79798462.	NM_022369.4(STRA6):c.1053G>A (p.Val351=) GRCh37: Chr15:74481493 GRCh38: Chr15:74189152	STRA6		Matthew-Wood syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 79140463.	NM_022369.4(STRA6):c.1692C>T (p.Tyr564=) GRCh37: Chr15:74473271 GRCh38: Chr15:74180930	STRA6		Matthew-Wood syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 78311164.	NM_022369.4(STRA6):c.1668C>T (p.Ala556=) GRCh37: Chr15:74473652 GRCh38: Chr15:74181311	STRA6		Matthew-Wood syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 77276565.	NM_022369.4(STRA6):c.902C>T (p.Thr301Ile) GRCh37: Chr15:74483206 GRCh38: Chr15:74190865	STRA6	T292I, T301I, T340I, T316I, T338I	not provided, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 77240966.	NM_022369.4(STRA6):c.1026C>T (p.Ile342=) GRCh37: Chr15:74481520 GRCh38: Chr15:74189179	STRA6		Matthew-Wood syndrome, not provided	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76758467.	NM_022369.4(STRA6):c.826C>T (p.Arg276Cys) GRCh37: Chr15:74483547 GRCh38: Chr15:74191206	STRA6	R267C, R276C, R315C, R291C, R313C	Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Jan 9, 2023)	criteria provided, conflicting interpretations
Select item 76729868.	NM_022369.4(STRA6):c.591G>A (p.Val197=) GRCh37: Chr15:74487649 GRCh38: Chr15:74195308	STRA6		Matthew-Wood syndrome, not provided	Likely benign (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76722869.	NM_022369.4(STRA6):c.105G>A (p.Gln35=) GRCh37: Chr15:74494504 GRCh38: Chr15:74202163	STRA6		Matthew-Wood syndrome	Benign (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 76677870.	NM_022369.4(STRA6):c.407-9A>T GRCh37: Chr15:74488025 GRCh38: Chr15:74195684	STRA6		Matthew-Wood syndrome	Likely benign (Mar 5, 2020)	criteria provided, single submitter
Select item 73753071.	NM_022369.4(STRA6):c.387C>A (p.Leu129=) GRCh37: Chr15:74488368 GRCh38: Chr15:74196027	STRA6		Matthew-Wood syndrome, not provided	Conflicting interpretations of pathogenicity (Mar 29, 2018)	criteria provided, conflicting interpretations
Select item 70844772.	NM_022369.4(STRA6):c.1242C>T (p.Arg414=) GRCh37: Chr15:74476255 GRCh38: Chr15:74183914	STRA6		Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Dec 31, 2019)	criteria provided, conflicting interpretations
Select item 59648773.	NM_022369.4(STRA6):c.1605C>A (p.Leu535=) GRCh37: Chr15:74473715 GRCh38: Chr15:74181374	STRA6		not specified, Matthew-Wood syndrome	Benign/Likely benign (Sep 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59116974.	NM_022369.4(STRA6):c.386_387delinsCA (p.Leu129Pro) GRCh37: Chr15:74488368-74488369 GRCh38: Chr15:74196027-74196028	STRA6	L166P, L120P, L129P, L144P, L168P	Matthew-Wood syndrome	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 57284175.	NM_022369.4(STRA6):c.1676dup (p.Asp560fs) GRCh37: Chr15:74473643-74473644 GRCh38: Chr15:74181302-74181303	STRA6	D599fs, D575fs, D597fs, D551fs, D560fs	Matthew-Wood syndrome	Pathogenic (Jul 20, 2020)	criteria provided, single submitter
Select item 49753576.	NM_022369.4(STRA6):c.1027G>T (p.Val343Leu) GRCh37: Chr15:74481519 GRCh38: Chr15:74189178	STRA6	V343L, V334L, V358L, V380L, V382L	not provided, Matthew-Wood syndrome	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46403677.	NM_022369.4(STRA6):c.946G>A (p.Val316Met) GRCh37: Chr15:74481600 GRCh38: Chr15:74189259	STRA6	V316M, V307M, V331M, V355M, V353M	Matthew-Wood syndrome	Benign (Sep 3, 2020)	criteria provided, single submitter
Select item 46403578.	NM_022369.4(STRA6):c.597+6C>T GRCh37: Chr15:74487637 GRCh38: Chr15:74195296	STRA6		Matthew-Wood syndrome	Likely benign (Dec 9, 2020)	criteria provided, single submitter
Select item 46403479.	NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) GRCh37: Chr15:74488388 GRCh38: Chr15:74196047	STRA6	A123P, A138P, A162P, A114P, A160P	not provided, Matthew-Wood syndrome	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46403380.	NM_022369.4(STRA6):c.2001C>T (p.Pro667=) GRCh37: Chr15:74472424 GRCh38: Chr15:74180083	STRA6		Matthew-Wood syndrome	Likely benign (Apr 24, 2019)	criteria provided, single submitter
Select item 46403281.	NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) GRCh37: Chr15:74490100 GRCh38: Chr15:74197759	STRA6	S58L, S97L, S95L, S73L	Matthew-Wood syndrome, not provided	Benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46403182.	NM_022369.4(STRA6):c.1391T>G (p.Leu464Arg) GRCh37: Chr15:74474711 GRCh38: Chr15:74182370	STRA6	L464R, L479R, L501R, L455R, L503R	not provided, Matthew-Wood syndrome	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45278583.	NM_022369.4(STRA6):c.653T>C (p.Phe218Ser) GRCh37: Chr15:74486208 GRCh38: Chr15:74193867	STRA6	F218S, F209S, F233S, F257S, F255S	not provided, Matthew-Wood syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44617484.	NM_022369.4(STRA6):c.113+3_113+4del GRCh37: Chr15:74494492-74494493 GRCh38: Chr15:74202151-74202152	STRA6		Matthew-Wood syndrome	Pathogenic (Nov 20, 2017)	no assertion criteria provided
Select item 43788785.	NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) GRCh37: Chr22:46345806 GRCh38: Chr22:45949926	WNT7B	R98*	Matthew-Wood syndrome, See cases	Pathogenic (Aug 31, 2017)	criteria provided, multiple submitters, no conflicts
Select item 31711986.	NM_022369.4(STRA6):c.4T>C (p.Ser2Pro) GRCh37: Chr15:74494605 GRCh38: Chr15:74202264	STRA6	S2P, S39P, S17P, S41P	Matthew-Wood syndrome	Uncertain significance (Aug 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31711887.	NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) GRCh37: Chr15:74494518 GRCh38: Chr15:74202177	STRA6	G31S, G70S, G46S, G68S	Matthew-Wood syndrome	Benign (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31711788.	NM_022369.4(STRA6):c.331C>T (p.Leu111=) GRCh37: Chr15:74488424 GRCh38: Chr15:74196083	STRA6		not provided, Matthew-Wood syndrome	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31711689.	NM_022369.4(STRA6):c.366C>T (p.Asp122=) GRCh37: Chr15:74488389 GRCh38: Chr15:74196048	STRA6		Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Sep 29, 2021)	criteria provided, conflicting interpretations
Select item 31711590.	NM_022369.4(STRA6):c.386T>C (p.Leu129Pro) GRCh37: Chr15:74488369 GRCh38: Chr15:74196028	STRA6	L129P, L120P, L166P, L144P, L168P	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31711491.	NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) GRCh37: Chr15:74488367 GRCh38: Chr15:74196026	STRA6	A130T, A167T, A121T, A169T, A145T	not provided, Matthew-Wood syndrome	Conflicting interpretations of pathogenicity (Oct 12, 2018)	criteria provided, conflicting interpretations
Select item 31711392.	NM_022369.4(STRA6):c.406+5C>T GRCh37: Chr15:74488344 GRCh38: Chr15:74196003	STRA6		not provided, Matthew-Wood syndrome	Likely benign (Dec 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 31711293.	NM_022369.4(STRA6):c.597+7G>A GRCh37: Chr15:74487636 GRCh38: Chr15:74195295	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31711194.	NM_022369.4(STRA6):c.597+9T>G GRCh37: Chr15:74487634 GRCh38: Chr15:74195293	STRA6		Matthew-Wood syndrome	Benign (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31711095.	NM_022369.4(STRA6):c.720+15C>T GRCh37: Chr15:74486126 GRCh38: Chr15:74193785	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31710996.	NM_022369.4(STRA6):c.853A>T (p.Thr285Ser) GRCh37: Chr15:74483520 GRCh38: Chr15:74191179	STRA6	T285S, T300S, T322S, T324S, T276S	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31710897.	NM_022369.4(STRA6):c.865+7G>A GRCh37: Chr15:74483501 GRCh38: Chr15:74191160	STRA6		Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31710798.	NM_022369.4(STRA6):c.993G>A (p.Thr331=) GRCh37: Chr15:74481553 GRCh38: Chr15:74189212	STRA6		Matthew-Wood syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 31710699.	NM_022369.4(STRA6):c.1079G>T (p.Trp360Leu) GRCh37: Chr15:74481467 GRCh38: Chr15:74189126	STRA6	W360L, W375L, W399L, W397L, W351L	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 317105100.	NM_022369.4(STRA6):c.1260G>C (p.Trp420Cys) GRCh37: Chr15:74476237 GRCh38: Chr15:74183896	STRA6	W420C, W435C, W411C, W457C, W459C	Matthew-Wood syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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