ClinVar for MedGen (Select 767257) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24345551.	NM_018026.4(PACS1):c.685G>A (p.Ala229Thr) GRCh37: Chr11:65983614 GRCh38: Chr11:66216143	PACS1	A229T	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 24345542.	NM_018026.4(PACS1):c.1269C>A (p.Ser423Arg) GRCh37: Chr11:65988694 GRCh38: Chr11:66221223	PACS1	S423R	Schuurs-Hoeijmakers syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 24345533.	NM_018026.4(PACS1):c.286C>T (p.Pro96Ser) GRCh37: Chr11:65838243 GRCh38: Chr11:66070772	LOC130006099, PACS1	P96S	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 24345524.	NM_018026.4(PACS1):c.1372C>G (p.Leu458Val) GRCh37: Chr11:65995053 GRCh38: Chr11:66227582	PACS1	L458V	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jan 12, 2021)	criteria provided, single submitter
Select item 24282955.	NM_018026.4(PACS1):c.1137C>T (p.Ser379=) GRCh37: Chr11:65988200 GRCh38: Chr11:66220729	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 24264196.	NC_000011.9:g.(?_65983971)_(65984266_?)del GRCh37: Chr11:65983971-65984266	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 24264187.	NC_000011.9:g.(?_66006255)_(66010751_?)del GRCh37: Chr11:66006255-66010751	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 24219728.	NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr) GRCh37: Chr11:66006693 GRCh38: Chr11:66239222	PACS1	A792T	Schuurs-Hoeijmakers syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 24174919.	NM_018026.4(PACS1):c.798G>A (p.Lys266=) GRCh37: Chr11:65983727 GRCh38: Chr11:66216256	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 241595010.	NM_018026.4(PACS1):c.1200G>A (p.Lys400=) GRCh37: Chr11:65988625 GRCh38: Chr11:66221154	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 220143111.	NM_018026.4(PACS1):c.2251-14T>G GRCh37: Chr11:66006261 GRCh38: Chr11:66238790	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 220048312.	NM_018026.4(PACS1):c.1812C>T (p.Ser604=) GRCh37: Chr11:66000511 GRCh38: Chr11:66233040	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 219945613.	NM_018026.4(PACS1):c.2140G>A (p.Val714Ile) GRCh37: Chr11:66002807 GRCh38: Chr11:66235336	PACS1	V714I	Schuurs-Hoeijmakers syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 219935214.	NM_018026.4(PACS1):c.1613G>C (p.Gly538Ala) GRCh37: Chr11:65998398 GRCh38: Chr11:66230927	PACS1	G538A	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 219832615.	NM_018026.4(PACS1):c.2379G>A (p.Thr793=) GRCh37: Chr11:66006698 GRCh38: Chr11:66239227	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Dec 25, 2021)	criteria provided, single submitter
Select item 219680916.	NM_018026.4(PACS1):c.1826G>A (p.Arg609Gln) GRCh37: Chr11:66000525 GRCh38: Chr11:66233054	PACS1	R609Q	Inborn genetic diseases, Schuurs-Hoeijmakers syndrome	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219516617.	NM_018026.4(PACS1):c.978G>A (p.Arg326=) GRCh37: Chr11:65984246 GRCh38: Chr11:66216775	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 219516218.	NM_018026.4(PACS1):c.1612G>A (p.Gly538Ser) GRCh37: Chr11:65998397 GRCh38: Chr11:66230926	PACS1	G538S	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 219499019.	NM_018026.4(PACS1):c.1845C>G (p.Asn615Lys) GRCh37: Chr11:66001262 GRCh38: Chr11:66233791	PACS1	N615K	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219354920.	NM_018026.4(PACS1):c.1408A>G (p.Ser470Gly) GRCh37: Chr11:65998052 GRCh38: Chr11:66230581	PACS1	S470G	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 219228021.	NM_018026.4(PACS1):c.1224G>C (p.Gln408His) GRCh37: Chr11:65988649 GRCh38: Chr11:66221178	PACS1	Q408H	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter
Select item 219143822.	NM_018026.4(PACS1):c.1383T>C (p.Thr461=) GRCh37: Chr11:65998027 GRCh38: Chr11:66230556	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 219052023.	NM_018026.4(PACS1):c.1447A>G (p.Met483Val) GRCh37: Chr11:65998091 GRCh38: Chr11:66230620	PACS1	M483V	Schuurs-Hoeijmakers syndrome	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 218542124.	NM_018026.4(PACS1):c.1504G>T (p.Val502Leu) GRCh37: Chr11:65998289 GRCh38: Chr11:66230818	PACS1	V502L	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 218524825.	NM_018026.4(PACS1):c.1199+5G>A GRCh37: Chr11:65988267 GRCh38: Chr11:66220796	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 218418026.	NM_018026.4(PACS1):c.1627-4G>T GRCh37: Chr11:65999639 GRCh38: Chr11:66232168	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 218357627.	NM_018026.4(PACS1):c.2349C>A (p.Pro783=) GRCh37: Chr11:66006668 GRCh38: Chr11:66239197	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 218235828.	NM_018026.4(PACS1):c.1050G>A (p.Gly350=) GRCh37: Chr11:65988113 GRCh38: Chr11:66220642	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 218119529.	NM_018026.4(PACS1):c.794C>G (p.Ser265Cys) GRCh37: Chr11:65983723 GRCh38: Chr11:66216252	PACS1	S265C	Schuurs-Hoeijmakers syndrome	Benign (Nov 3, 2022)	criteria provided, single submitter
Select item 218100230.	NM_018026.4(PACS1):c.1994-16G>A GRCh37: Chr11:66001587 GRCh38: Chr11:66234116	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 217994831.	NM_018026.4(PACS1):c.1622C>T (p.Thr541Met) GRCh37: Chr11:65998407 GRCh38: Chr11:66230936	PACS1	T541M	Schuurs-Hoeijmakers syndrome	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 217903032.	NM_018026.4(PACS1):c.1626+4C>A GRCh37: Chr11:65998415 GRCh38: Chr11:66230944	PACS1		Schuurs-Hoeijmakers syndrome	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 217569033.	NM_018026.4(PACS1):c.1039-7C>A GRCh37: Chr11:65988095 GRCh38: Chr11:66220624	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 217273734.	NM_018026.4(PACS1):c.2082T>G (p.Ser694Arg) GRCh37: Chr11:66001691 GRCh38: Chr11:66234220	PACS1	S694R	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 217129235.	NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys) GRCh37: Chr11:65995006 GRCh38: Chr11:66227535	PACS1	S442C	Schuurs-Hoeijmakers syndrome	Uncertain significance (Oct 9, 2022)	criteria provided, single submitter
Select item 216912136.	NM_018026.4(PACS1):c.2776+9G>A GRCh37: Chr11:66010511 GRCh38: Chr11:66243040	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 216852337.	NM_018026.4(PACS1):c.805+10A>G GRCh37: Chr11:65983744 GRCh38: Chr11:66216273	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 216690438.	NM_018026.4(PACS1):c.2373C>T (p.Asp791=) GRCh37: Chr11:66006692 GRCh38: Chr11:66239221	PACS1		not provided, Schuurs-Hoeijmakers syndrome	Likely benign (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216611439.	NM_018026.4(PACS1):c.2079C>T (p.Phe693=) GRCh37: Chr11:66001688 GRCh38: Chr11:66234217	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 216595040.	NM_018026.4(PACS1):c.2628T>C (p.Thr876=) GRCh37: Chr11:66009096 GRCh38: Chr11:66241625	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 216567641.	NM_018026.4(PACS1):c.777C>T (p.Asp259=) GRCh37: Chr11:65983706 GRCh38: Chr11:66216235	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 216496342.	NM_018026.4(PACS1):c.1950C>T (p.Thr650=) GRCh37: Chr11:66001367 GRCh38: Chr11:66233896	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 216124643.	NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser) GRCh37: Chr11:66002811 GRCh38: Chr11:66235340	PACS1	N715S	Inborn genetic diseases, Schuurs-Hoeijmakers syndrome	Benign/Likely benign (Jun 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 216014144.	NM_018026.4(PACS1):c.478G>A (p.Val160Ile) GRCh37: Chr11:65977866 GRCh38: Chr11:66210395	PACS1	V160I	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 215806645.	NM_018026.4(PACS1):c.806-13G>A GRCh37: Chr11:65983978 GRCh38: Chr11:66216507	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 215697346.	NM_018026.4(PACS1):c.1199+8C>T GRCh37: Chr11:65988270 GRCh38: Chr11:66220799	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 215404347.	NM_018026.4(PACS1):c.661-6T>G GRCh37: Chr11:65983584 GRCh38: Chr11:66216113	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 215292248.	NM_018026.4(PACS1):c.2766T>G (p.Thr922=) GRCh37: Chr11:66010492 GRCh38: Chr11:66243021	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 215145049.	NM_018026.4(PACS1):c.1627-17T>G GRCh37: Chr11:65999626 GRCh38: Chr11:66232155	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 215087350.	NM_018026.4(PACS1):c.1305T>A (p.Ala435=) GRCh37: Chr11:65994986 GRCh38: Chr11:66227515	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 214997351.	NM_018026.4(PACS1):c.471C>T (p.Asn157=) GRCh37: Chr11:65977859 GRCh38: Chr11:66210388	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214939852.	NM_018026.4(PACS1):c.915C>T (p.Asp305=) GRCh37: Chr11:65984183 GRCh38: Chr11:66216712	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 214846753.	NM_018026.4(PACS1):c.731C>G (p.Pro244Arg) GRCh37: Chr11:65983660 GRCh38: Chr11:66216189	PACS1	P244R	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 214540454.	NM_018026.4(PACS1):c.463C>T (p.Arg155Cys) GRCh37: Chr11:65977851 GRCh38: Chr11:66210380	PACS1	R155C	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 214496355.	NM_018026.4(PACS1):c.2156C>T (p.Thr719Met) GRCh37: Chr11:66002823 GRCh38: Chr11:66235352	PACS1	T719M	Schuurs-Hoeijmakers syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 214486256.	NM_018026.4(PACS1):c.2172C>T (p.Pro724=) GRCh37: Chr11:66002839 GRCh38: Chr11:66235368	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 214473457.	NM_018026.4(PACS1):c.2104+13T>C GRCh37: Chr11:66001726 GRCh38: Chr11:66234255	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 214470458.	NM_018026.4(PACS1):c.1355T>G (p.Leu452Trp) GRCh37: Chr11:65995036 GRCh38: Chr11:66227565	PACS1	L452W	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 214416159.	NM_018026.4(PACS1):c.1539G>C (p.Leu513=) GRCh37: Chr11:65998324 GRCh38: Chr11:66230853	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 214331760.	NM_018026.4(PACS1):c.814C>G (p.Pro272Ala) GRCh37: Chr11:65983999 GRCh38: Chr11:66216528	PACS1	P272A	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 214300261.	NM_018026.4(PACS1):c.1294-13A>G GRCh37: Chr11:65994962 GRCh38: Chr11:66227491	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 214245562.	NM_018026.4(PACS1):c.1427C>T (p.Pro476Leu) GRCh37: Chr11:65998071 GRCh38: Chr11:66230600	PACS1	P476L	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 214226263.	NM_018026.4(PACS1):c.979-16C>T GRCh37: Chr11:65987201 GRCh38: Chr11:66219730	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 214218364.	NM_018026.4(PACS1):c.1199+10C>T GRCh37: Chr11:65988272 GRCh38: Chr11:66220801	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 214043665.	NM_018026.4(PACS1):c.2062G>T (p.Gly688Cys) GRCh37: Chr11:66001671 GRCh38: Chr11:66234200	PACS1	G688C	Schuurs-Hoeijmakers syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 214031966.	NM_018026.4(PACS1):c.661-5C>T GRCh37: Chr11:65983585 GRCh38: Chr11:66216114	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213925367.	NM_018026.4(PACS1):c.1466A>T (p.Asp489Val) GRCh37: Chr11:65998110 GRCh38: Chr11:66230639	PACS1	D489V	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 213729068.	NM_018026.4(PACS1):c.1839-15_1839-14insAGGGGTG GRCh37: Chr11:66001241-66001242 GRCh38: Chr11:66233770-66233771	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 213728869.	NM_018026.4(PACS1):c.1839-18_1839-17insTGGGCAGTG GRCh37: Chr11:66001237-66001238 GRCh38: Chr11:66233766-66233767	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 213555570.	NM_018026.4(PACS1):c.2424C>T (p.Ile808=) GRCh37: Chr11:66006743 GRCh38: Chr11:66239272	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 213544471.	NM_018026.4(PACS1):c.2293+3G>A GRCh37: Chr11:66006320 GRCh38: Chr11:66238849	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213233672.	NM_018026.4(PACS1):c.978+21_978+26del GRCh37: Chr11:65984265-65984270 GRCh38: Chr11:66216794-66216799	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213218973.	NM_018026.4(PACS1):c.1671G>T (p.Val557=) GRCh37: Chr11:65999687 GRCh38: Chr11:66232216	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213208374.	NM_018026.4(PACS1):c.1950C>A (p.Thr650=) GRCh37: Chr11:66001367 GRCh38: Chr11:66233896	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 212695575.	NM_018026.4(PACS1):c.2021G>T (p.Gly674Val) GRCh37: Chr11:66001630 GRCh38: Chr11:66234159	PACS1	G674V	Schuurs-Hoeijmakers syndrome	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 212573376.	NM_018026.4(PACS1):c.1993+12A>G GRCh37: Chr11:66001422 GRCh38: Chr11:66233951	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 212477477.	NM_018026.4(PACS1):c.2250C>G (p.Gly750=) GRCh37: Chr11:66003411 GRCh38: Chr11:66235940	PACS1		Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 212444878.	NM_018026.4(PACS1):c.2105-13G>C GRCh37: Chr11:66002759 GRCh38: Chr11:66235288	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212424079.	NM_018026.4(PACS1):c.510G>A (p.Glu170=) GRCh37: Chr11:65977898 GRCh38: Chr11:66210427	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 212360380.	NM_018026.4(PACS1):c.1294-7T>C GRCh37: Chr11:65994968 GRCh38: Chr11:66227497	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 212327981.	NM_018026.4(PACS1):c.1773G>C (p.Val591=) GRCh37: Chr11:66000472 GRCh38: Chr11:66233001	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212029682.	NM_018026.4(PACS1):c.2421C>T (p.Ala807=) GRCh37: Chr11:66006740 GRCh38: Chr11:66239269	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 211770083.	NM_018026.4(PACS1):c.1644_1648del (p.Tyr549fs) GRCh37: Chr11:65999660-65999664 GRCh38: Chr11:66232189-66232193	PACS1	Y549fs	Schuurs-Hoeijmakers syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 211704784.	NM_018026.4(PACS1):c.549T>C (p.Leu183=) GRCh37: Chr11:65978619 GRCh38: Chr11:66211148	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211567985.	NM_018026.4(PACS1):c.1771G>A (p.Val591Met) GRCh37: Chr11:66000470 GRCh38: Chr11:66232999	PACS1	V591M	Schuurs-Hoeijmakers syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 211160886.	NM_018026.4(PACS1):c.1651C>A (p.Gln551Lys) GRCh37: Chr11:65999667 GRCh38: Chr11:66232196	PACS1	Q551K	Schuurs-Hoeijmakers syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 211153687.	NM_018026.4(PACS1):c.1732-13C>G GRCh37: Chr11:66000418 GRCh38: Chr11:66232947	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 211037988.	NM_018026.4(PACS1):c.660+19_660+20insA GRCh37: Chr11:65978749-65978750 GRCh38: Chr11:66211278-66211279	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 210899389.	NM_018026.4(PACS1):c.1059T>C (p.His353=) GRCh37: Chr11:65988122 GRCh38: Chr11:66220651	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 210768290.	NM_018026.4(PACS1):c.2253G>A (p.Val751=) GRCh37: Chr11:66006277 GRCh38: Chr11:66238806	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 210645291.	NM_018026.4(PACS1):c.2656+15G>A GRCh37: Chr11:66009139 GRCh38: Chr11:66241668	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 210607592.	NM_018026.4(PACS1):c.898-6A>G GRCh37: Chr11:65984160 GRCh38: Chr11:66216689	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 210419893.	NM_018026.4(PACS1):c.1994-17G>C GRCh37: Chr11:66001586 GRCh38: Chr11:66234115	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 210383794.	NM_018026.4(PACS1):c.2199G>A (p.Arg733=) GRCh37: Chr11:66002866 GRCh38: Chr11:66235395	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 210382595.	NM_018026.4(PACS1):c.491G>T (p.Ser164Ile) GRCh37: Chr11:65977879 GRCh38: Chr11:66210408	PACS1	S164I	Schuurs-Hoeijmakers syndrome	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 210370696.	NM_018026.4(PACS1):c.1328C>T (p.Thr443Ile) GRCh37: Chr11:65995009 GRCh38: Chr11:66227538	PACS1	T443I	Schuurs-Hoeijmakers syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 210111897.	NM_018026.4(PACS1):c.979-15G>T GRCh37: Chr11:65987202 GRCh38: Chr11:66219731	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 210089798.	NM_018026.4(PACS1):c.2429+16G>A GRCh37: Chr11:66006764 GRCh38: Chr11:66239293	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 210087399.	NM_018026.4(PACS1):c.1374+15G>A GRCh37: Chr11:65995070 GRCh38: Chr11:66227599	PACS1		Schuurs-Hoeijmakers syndrome	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 2100247100.	NM_018026.4(PACS1):c.970A>G (p.Ile324Val) GRCh37: Chr11:65984238 GRCh38: Chr11:66216767	PACS1	I324V	Schuurs-Hoeijmakers syndrome	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts

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