ClinVar for MedGen (Select 863395) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24348541.	NM_001346754.2(PIGW):c.439G>A (p.Val147Met) GRCh37: Chr17:34893389 GRCh38: Chr17:36537540	MYO19, PIGW	V147M	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 24231222.	NC_000017.10:g.(?_34892951)_(36104875_?)dup GRCh37: Chr17:34892951-36104875	AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, PIGW, SYNRG, TADA2A		Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 24197703.	NM_001346754.2(PIGW):c.1482A>G (p.Leu494=) GRCh37: Chr17:34894432 GRCh38: Chr17:36538583	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 24185564.	NM_001346754.2(PIGW):c.1290A>G (p.Glu430=) GRCh37: Chr17:34894240 GRCh38: Chr17:36538391	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 22021895.	NM_001346754.2(PIGW):c.385A>G (p.Ile129Val) GRCh37: Chr17:34893335 GRCh38: Chr17:36537486	MYO19, PIGW	I129V	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 21964396.	NM_001346754.2(PIGW):c.643G>A (p.Gly215Arg) GRCh37: Chr17:34893593 GRCh38: Chr17:36537744	PIGW, MYO19	G215R	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 21951977.	NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr) GRCh37: Chr17:34894128 GRCh38: Chr17:36538279	MYO19, PIGW	I393T	Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 21949418.	NM_001346754.2(PIGW):c.660A>G (p.Ile220Met) GRCh37: Chr17:34893610 GRCh38: Chr17:36537761	MYO19, PIGW	I220M	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21945499.	NM_001346754.2(PIGW):c.608T>C (p.Leu203Ser) GRCh37: Chr17:34893558 GRCh38: Chr17:36537709	MYO19, PIGW	L203S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 219308210.	NM_001346754.2(PIGW):c.906C>T (p.Asn302=) GRCh37: Chr17:34893856 GRCh38: Chr17:36538007	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 218851211.	NM_001346754.2(PIGW):c.171C>T (p.Phe57=) GRCh37: Chr17:34893121 GRCh38: Chr17:36537272	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218649012.	NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp) GRCh37: Chr17:34893259 GRCh38: Chr17:36537410	MYO19, PIGW	C103W	Hyperphosphatasia with intellectual disability syndrome 5	Benign (May 15, 2022)	criteria provided, single submitter
Select item 218545613.	NM_001346754.2(PIGW):c.1426G>A (p.Ala476Thr) GRCh37: Chr17:34894376 GRCh38: Chr17:36538527	PIGW, MYO19	A476T	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218539514.	NM_001346754.2(PIGW):c.776A>G (p.Asn259Ser) GRCh37: Chr17:34893726 GRCh38: Chr17:36537877	MYO19, PIGW	N259S	Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217046815.	NM_001346754.2(PIGW):c.1286C>T (p.Pro429Leu) GRCh37: Chr17:34894236 GRCh38: Chr17:36538387	MYO19, PIGW	P429L	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 216206316.	NM_001346754.2(PIGW):c.1172G>A (p.Gly391Asp) GRCh37: Chr17:34894122 GRCh38: Chr17:36538273	MYO19, PIGW	G391D	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 214748617.	NM_001346754.2(PIGW):c.55G>A (p.Val19Met) GRCh37: Chr17:34893005 GRCh38: Chr17:36537156	MYO19, PIGW	V19M	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 214688318.	NM_001346754.2(PIGW):c.907C>T (p.Arg303Cys) GRCh37: Chr17:34893857 GRCh38: Chr17:36538008	MYO19, PIGW	R303C	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 214070419.	NM_001346754.2(PIGW):c.1411A>G (p.Ser471Gly) GRCh37: Chr17:34894361 GRCh38: Chr17:36538512	MYO19, PIGW	S471G	Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases	Uncertain significance (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213556920.	NM_001346754.2(PIGW):c.979C>T (p.His327Tyr) GRCh37: Chr17:34893929 GRCh38: Chr17:36538080	MYO19, PIGW	H327Y	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213420321.	NM_001346754.2(PIGW):c.879C>T (p.Gly293=) GRCh37: Chr17:34893829 GRCh38: Chr17:36537980	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 213337022.	NM_001346754.2(PIGW):c.563G>C (p.Arg188Thr) GRCh37: Chr17:34893513 GRCh38: Chr17:36537664	MYO19, PIGW	R188T	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 212601023.	NM_001346754.2(PIGW):c.106dup (p.Arg36fs) GRCh37: Chr17:34893055-34893056 GRCh38: Chr17:36537206-36537207	MYO19, PIGW	R36fs	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 212433624.	NM_001346754.2(PIGW):c.102G>A (p.Leu34=) GRCh37: Chr17:34893052 GRCh38: Chr17:36537203	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 211447025.	NM_001346754.2(PIGW):c.294C>T (p.Tyr98=) GRCh37: Chr17:34893244 GRCh38: Chr17:36537395	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211254526.	NM_001346754.2(PIGW):c.547C>G (p.Leu183Val) GRCh37: Chr17:34893497 GRCh38: Chr17:36537648	MYO19, PIGW	L183V	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 210696627.	NM_001346754.2(PIGW):c.323C>T (p.Pro108Leu) GRCh37: Chr17:34893273 GRCh38: Chr17:36537424	MYO19, PIGW	P108L	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210553528.	NM_001346754.2(PIGW):c.1062_1063del (p.Tyr355fs) GRCh37: Chr17:34894011-34894012 GRCh38: Chr17:36538162-36538163	PIGW, MYO19	Y355fs	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 210258029.	NM_001346754.2(PIGW):c.1307C>A (p.Pro436His) GRCh37: Chr17:34894257 GRCh38: Chr17:36538408	MYO19, PIGW	P436H	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 210110130.	NM_001346754.2(PIGW):c.728T>C (p.Ile243Thr) GRCh37: Chr17:34893678 GRCh38: Chr17:36537829	MYO19, PIGW	I243T	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209969131.	NM_001346754.2(PIGW):c.147T>C (p.Phe49=) GRCh37: Chr17:34893097 GRCh38: Chr17:36537248	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209527632.	NM_001346754.2(PIGW):c.1238T>G (p.Leu413Arg) GRCh37: Chr17:34894188 GRCh38: Chr17:36538339	MYO19, PIGW	L413R	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 208875833.	NM_001346754.2(PIGW):c.436G>T (p.Ala146Ser) GRCh37: Chr17:34893386 GRCh38: Chr17:36537537	MYO19, PIGW	A146S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 208757034.	NM_001346754.2(PIGW):c.1246T>C (p.Ser416Pro) GRCh37: Chr17:34894196 GRCh38: Chr17:36538347	MYO19, PIGW	S416P	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 207469535.	NM_001346754.2(PIGW):c.1284C>A (p.Val428=) GRCh37: Chr17:34894234 GRCh38: Chr17:36538385	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jan 4, 2022)	criteria provided, single submitter
Select item 207176636.	NM_001346754.2(PIGW):c.1479A>C (p.Val493=) GRCh37: Chr17:34894429 GRCh38: Chr17:36538580	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 206797237.	NM_001346754.2(PIGW):c.21G>A (p.Lys7=) GRCh37: Chr17:34892971 GRCh38: Chr17:36537122	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Benign (Apr 15, 2022)	criteria provided, single submitter
Select item 206241338.	NM_001346754.2(PIGW):c.455T>G (p.Phe152Cys) GRCh37: Chr17:34893405 GRCh38: Chr17:36537556	PIGW, MYO19	F152C	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 205645639.	NM_001346754.2(PIGW):c.891T>G (p.Gly297=) GRCh37: Chr17:34893841 GRCh38: Chr17:36537992	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205448440.	NM_001346754.2(PIGW):c.1421T>C (p.Leu474Ser) GRCh37: Chr17:34894371 GRCh38: Chr17:36538522	MYO19, PIGW	L474S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 204601141.	NM_001346754.2(PIGW):c.775_776del (p.Leu258_Asn259insTer) GRCh37: Chr17:34893724-34893725 GRCh38: Chr17:36537875-36537876	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 204423642.	NM_001346754.2(PIGW):c.1030T>C (p.Leu344=) GRCh37: Chr17:34893980 GRCh38: Chr17:36538131	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Benign (Apr 25, 2022)	criteria provided, single submitter
Select item 204297343.	NM_001346754.2(PIGW):c.15G>C (p.Gln5His) GRCh37: Chr17:34892965 GRCh38: Chr17:36537116	MYO19, PIGW	Q5H	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 204084644.	NM_001346754.2(PIGW):c.116T>C (p.Leu39Pro) GRCh37: Chr17:34893066 GRCh38: Chr17:36537217	MYO19, PIGW	L39P	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 202525145.	NM_001346754.2(PIGW):c.1335C>T (p.Asn445=) GRCh37: Chr17:34894285 GRCh38: Chr17:36538436	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 201354846.	NM_001346754.2(PIGW):c.1249C>G (p.Pro417Ala) GRCh37: Chr17:34894199 GRCh38: Chr17:36538350	MYO19, PIGW	P417A	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201288247.	NM_001346754.2(PIGW):c.15G>T (p.Gln5His) GRCh37: Chr17:34892965 GRCh38: Chr17:36537116	MYO19, PIGW	Q5H	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 200786948.	NM_001346754.2(PIGW):c.322C>T (p.Pro108Ser) GRCh37: Chr17:34893272 GRCh38: Chr17:36537423	MYO19, PIGW	P108S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 200331649.	NM_001346754.2(PIGW):c.600A>G (p.Thr200=) GRCh37: Chr17:34893550 GRCh38: Chr17:36537701	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 199266850.	NM_001346754.2(PIGW):c.1112T>C (p.Leu371Ser) GRCh37: Chr17:34894062 GRCh38: Chr17:36538213	MYO19, PIGW	L371S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 198734751.	NM_001346754.2(PIGW):c.159G>A (p.Trp53Ter) GRCh37: Chr17:34893109 GRCh38: Chr17:36537260	MYO19, PIGW	W53*	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 198110352.	NM_001346754.2(PIGW):c.683A>G (p.His228Arg) GRCh37: Chr17:34893633 GRCh38: Chr17:36537784	MYO19, PIGW	H228R	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 197986153.	NM_001346754.2(PIGW):c.1501_1502del (p.Val501fs) GRCh37: Chr17:34894450-34894451 GRCh38: Chr17:36538601-36538602	MYO19, PIGW	V501fs	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 195694354.	NM_001346754.2(PIGW):c.1364C>G (p.Ser455Ter) GRCh37: Chr17:34894314 GRCh38: Chr17:36538465	MYO19, PIGW	S455*	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 195662455.	NM_001346754.2(PIGW):c.966A>T (p.Thr322=) GRCh37: Chr17:34893916 GRCh38: Chr17:36538067	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 195646656.	NM_001346754.2(PIGW):c.1016_1018del (p.Val339del) GRCh37: Chr17:34893964-34893966 GRCh38: Chr17:36538115-36538117	MYO19, PIGW	V339del	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 195289957.	NM_001346754.2(PIGW):c.699A>T (p.Gly233=) GRCh37: Chr17:34893649 GRCh38: Chr17:36537800	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 195182058.	NM_001346754.2(PIGW):c.901G>T (p.Ala301Ser) GRCh37: Chr17:34893851 GRCh38: Chr17:36538002	MYO19, PIGW	A301S	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 195151459.	NM_001346754.2(PIGW):c.296G>A (p.Arg99Gln) GRCh37: Chr17:34893246 GRCh38: Chr17:36537397	MYO19, PIGW	R99Q	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 194980760.	NM_001346754.2(PIGW):c.1349T>C (p.Ile450Thr) GRCh37: Chr17:34894299 GRCh38: Chr17:36538450	PIGW, MYO19	I450T	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Dec 27, 2021)	criteria provided, single submitter
Select item 193394661.	NM_001346754.2(PIGW):c.925A>G (p.Thr309Ala) GRCh37: Chr17:34893875 GRCh38: Chr17:36538026	MYO19, PIGW	T309A	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 193317062.	NM_001346754.2(PIGW):c.768T>C (p.Phe256=) GRCh37: Chr17:34893718 GRCh38: Chr17:36537869	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 192800463.	NM_001346754.2(PIGW):c.1202del (p.Leu401fs) GRCh37: Chr17:34894152 GRCh38: Chr17:36538303	MYO19, PIGW	L401fs	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 192590664.	NM_001346754.2(PIGW):c.234T>A (p.Phe78Leu) GRCh37: Chr17:34893184 GRCh38: Chr17:36537335	MYO19, PIGW	F78L	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 191959965.	NM_001346754.2(PIGW):c.252C>T (p.Leu84=) GRCh37: Chr17:34893202 GRCh38: Chr17:36537353	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 191895666.	NM_001346754.2(PIGW):c.810A>G (p.Val270=) GRCh37: Chr17:34893760 GRCh38: Chr17:36537911	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 191476367.	NM_001346754.2(PIGW):c.613T>G (p.Ser205Ala) GRCh37: Chr17:34893563 GRCh38: Chr17:36537714	MYO19, PIGW	S205A	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 191416968.	NM_001346754.2(PIGW):c.413C>T (p.Ala138Val) GRCh37: Chr17:34893363 GRCh38: Chr17:36537514	MYO19, PIGW	A138V	Hyperphosphatasia with intellectual disability syndrome 5, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 8, 2022)	criteria provided, conflicting interpretations
Select item 191261069.	NM_001346754.2(PIGW):c.885G>C (p.Arg295=) GRCh37: Chr17:34893835 GRCh38: Chr17:36537986	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 190845270.	NM_001346754.2(PIGW):c.222T>C (p.Ile74=) GRCh37: Chr17:34893172 GRCh38: Chr17:36537323	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 190740971.	NM_001346754.2(PIGW):c.537A>G (p.Ala179=) GRCh37: Chr17:34893487 GRCh38: Chr17:36537638	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 190022872.	NM_001346754.2(PIGW):c.291del (p.Tyr98fs) GRCh37: Chr17:34893241 GRCh38: Chr17:36537392	PIGW, MYO19	Y98fs	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 189927673.	NM_001346754.2(PIGW):c.501G>C (p.Met167Ile) GRCh37: Chr17:34893451 GRCh38: Chr17:36537602	MYO19, PIGW	M167I	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 189716874.	NM_001346754.2(PIGW):c.623C>T (p.Pro208Leu) GRCh37: Chr17:34893573 GRCh38: Chr17:36537724	MYO19, PIGW	P208L	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 180549475.	NM_001346754.2(PIGW):c.464G>T (p.Arg155Ile) GRCh37: Chr17:34893414 GRCh38: Chr17:36537565	MYO19, PIGW	R155I	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 171485976.	NM_001346754.2(PIGW):c.833T>G (p.Phe278Cys) GRCh37: Chr17:34893783 GRCh38: Chr17:36537934	MYO19, PIGW	F278C	Hyperphosphatasia with intellectual disability syndrome 5	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 170432877.	NM_001346754.2(PIGW):c.77T>C (p.Leu26Ser) GRCh37: Chr17:34893027 GRCh38: Chr17:36537178	PIGW, MYO19	L26S	Hyperphosphatasia with intellectual disability syndrome 5	Pathogenic (Sep 8, 2022)	no assertion criteria provided
Select item 170432778.	NM_001346754.2(PIGW):c.462A>T (p.Arg154Ser) GRCh37: Chr17:34893412 GRCh38: Chr17:36537563	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Pathogenic (Sep 8, 2022)	no assertion criteria provided
Select item 170432679.	NM_001346754.2(PIGW):c.178G>A (p.Asp60Asn) GRCh37: Chr17:34893128 GRCh38: Chr17:36537279	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Pathogenic (Sep 8, 2022)	no assertion criteria provided
Select item 167475280.	NM_001346754.2(PIGW):c.1110T>C (p.Asn370=) GRCh37: Chr17:34894060 GRCh38: Chr17:36538211	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 166878381.	NM_001346754.2(PIGW):c.153T>C (p.Pro51=) GRCh37: Chr17:34893103 GRCh38: Chr17:36537254	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Dec 28, 2020)	criteria provided, single submitter
Select item 166868182.	NM_001346754.2(PIGW):c.405T>C (p.Ile135=) GRCh37: Chr17:34893355 GRCh38: Chr17:36537506	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Apr 22, 2021)	criteria provided, single submitter
Select item 166658383.	NM_001346754.2(PIGW):c.624A>G (p.Pro208=) GRCh37: Chr17:34893574 GRCh38: Chr17:36537725	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 166492284.	NM_001346754.2(PIGW):c.1297A>C (p.Arg433=) GRCh37: Chr17:34894247 GRCh38: Chr17:36538398	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 166135585.	NM_001346754.2(PIGW):c.58C>T (p.Leu20=) GRCh37: Chr17:34893008 GRCh38: Chr17:36537159	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 165951986.	NM_001346754.2(PIGW):c.894A>G (p.Leu298=) GRCh37: Chr17:34893844 GRCh38: Chr17:36537995	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 13, 2021)	criteria provided, single submitter
Select item 164305187.	NM_001346754.2(PIGW):c.894A>C (p.Leu298=) GRCh37: Chr17:34893844 GRCh38: Chr17:36537995	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 164011788.	NM_001346754.2(PIGW):c.642C>T (p.Ile214=) GRCh37: Chr17:34893592 GRCh38: Chr17:36537743	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 163403089.	NM_001346754.2(PIGW):c.966A>G (p.Thr322=) GRCh37: Chr17:34893916 GRCh38: Chr17:36538067	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 162370690.	NM_001346754.2(PIGW):c.1183T>C (p.Leu395=) GRCh37: Chr17:34894133 GRCh38: Chr17:36538284	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 161508391.	NM_001346754.2(PIGW):c.234T>C (p.Phe78=) GRCh37: Chr17:34893184 GRCh38: Chr17:36537335	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 161188492.	NM_001346754.2(PIGW):c.1404A>G (p.Thr468=) GRCh37: Chr17:34894354 GRCh38: Chr17:36538505	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 160800193.	NM_001346754.2(PIGW):c.186T>C (p.Val62=) GRCh37: Chr17:34893136 GRCh38: Chr17:36537287	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 160346194.	NM_001346754.2(PIGW):c.684T>C (p.His228=) GRCh37: Chr17:34893634 GRCh38: Chr17:36537785	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 160202195.	NM_001346754.2(PIGW):c.841C>T (p.Leu281=) GRCh37: Chr17:34893791 GRCh38: Chr17:36537942	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Aug 31, 2021)	criteria provided, single submitter
Select item 159775796.	NM_001346754.2(PIGW):c.1410C>T (p.His470=) GRCh37: Chr17:34894360 GRCh38: Chr17:36538511	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 159399697.	NM_001346754.2(PIGW):c.69C>T (p.Thr23=) GRCh37: Chr17:34893019 GRCh38: Chr17:36537170	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 158739498.	NM_001346754.2(PIGW):c.1497G>A (p.Lys499=) GRCh37: Chr17:34894447 GRCh38: Chr17:36538598	MYO19, PIGW		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 158641099.	NM_001346754.2(PIGW):c.1065C>T (p.Tyr355=) GRCh37: Chr17:34894015 GRCh38: Chr17:36538166	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 1583408100.	NM_001346754.2(PIGW):c.360T>C (p.Ser120=) GRCh37: Chr17:34893310 GRCh38: Chr17:36537461	PIGW, MYO19		Hyperphosphatasia with intellectual disability syndrome 5	Likely benign (Jul 19, 2022)	criteria provided, single submitter

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