ClinVar for MedGen (Select 1647044) - ClinVar

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Items: 69

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24348531.	NM_017837.4(PIGV):c.452C>T (p.Ala151Val) GRCh37: Chr1:27120977 GRCh38: Chr1:26794486	PIGV	A151V, A24V	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 14, 2019)	criteria provided, single submitter
Select item 24348522.	NM_017837.4(PIGV):c.320G>T (p.Gly107Val) GRCh37: Chr1:27120845 GRCh38: Chr1:26794354	PIGV	G107V	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Nov 14, 2022)	criteria provided, single submitter
Select item 18061913.	NM_017837.4(PIGV):c.974del (p.Val325fs) GRCh37: Chr1:27121499 GRCh38: Chr1:26795008	PIGV	V116fs, V198fs, V325fs	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 17005214.	NM_017837.4(PIGV):c.146C>A (p.Ser49Ter) GRCh37: Chr1:27120671 GRCh38: Chr1:26794180	PIGV	S49*	Hyperphosphatasia with intellectual disability syndrome 1, PIGV-related condition, not provided	Conflicting interpretations of pathogenicity (Sep 15, 2023)	criteria provided, conflicting interpretations
Select item 13415135.	NM_004278.4(PIGL):c.438C>A (p.Phe146Leu) GRCh37: Chr17:16216872 GRCh38: Chr17:16313558	PIGL	F146L	not provided	Likely pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 13192776.	NM_017837.4(PIGV):c.428A>G (p.His143Arg) GRCh37: Chr1:27120953 GRCh38: Chr1:26794462	PIGV	H143R, H16R	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11640777.	NM_017837.4(PIGV):c.242A>G (p.Tyr81Cys) GRCh37: Chr1:27120767 GRCh38: Chr1:26794276	PIGV	Y81C	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 10294908.	NM_017837.4(PIGV):c.184G>A (p.Gly62Ser) GRCh37: Chr1:27120709 GRCh38: Chr1:26794218	PIGV	G62S	Inborn genetic diseases, not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8766369.	NM_017837.4(PIGV):c.*167G>A GRCh37: Chr1:27124502 GRCh38: Chr1:26798011	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 87663510.	NM_017837.4(PIGV):c.*114C>A GRCh37: Chr1:27124449 GRCh38: Chr1:26797958	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87663411.	NM_017837.4(PIGV):c.1467C>G (p.Phe489Leu) GRCh37: Chr1:27124320 GRCh38: Chr1:26797829	PIGV	F362L, F489L, F115L, F280L	Hyperphosphatasia with intellectual disability syndrome 1, not provided, Inborn genetic diseases	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87657812.	NM_017837.4(PIGV):c.-166G>A GRCh37: Chr1:27114651 GRCh38: Chr1:26788160	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87657713.	NM_017837.4(PIGV):c.-184G>T GRCh37: Chr1:27114633 GRCh38: Chr1:26788142	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87563114.	NM_017837.4(PIGV):c.980A>G (p.Asn327Ser) GRCh37: Chr1:27121505 GRCh38: Chr1:26795014	PIGV	N118S, N327S, N200S	Hyperphosphatasia with intellectual disability syndrome 1, not provided	Uncertain significance (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87563015.	NM_017837.4(PIGV):c.968A>G (p.Lys323Arg) GRCh37: Chr1:27121493 GRCh38: Chr1:26795002	PIGV	K196R, K323R, K114R	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87468916.	NM_017837.4(PIGV):c.732G>A (p.Ser244=) GRCh37: Chr1:27121257 GRCh38: Chr1:26794766	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87378317.	NM_017837.4(PIGV):c.*473T>G GRCh37: Chr1:27124808 GRCh38: Chr1:26798317	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87378218.	NM_017837.4(PIGV):c.*456C>T GRCh37: Chr1:27124791 GRCh38: Chr1:26798300	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87372419.	NM_017837.4(PIGV):c.312C>G (p.Pro104=) GRCh37: Chr1:27120837 GRCh38: Chr1:26794346	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87372320.	NM_017837.4(PIGV):c.265C>T (p.Pro89Ser) GRCh37: Chr1:27120790 GRCh38: Chr1:26794299	PIGV	P89S	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87372221.	NM_017837.4(PIGV):c.223G>A (p.Ala75Thr) GRCh37: Chr1:27120748 GRCh38: Chr1:26794257	PIGV	A75T	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87372122.	NM_017837.4(PIGV):c.78+4A>G GRCh37: Chr1:27117388 GRCh38: Chr1:26790897	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87372023.	NM_017837.4(PIGV):c.-68G>A GRCh37: Chr1:27114749 GRCh38: Chr1:26788258	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87113424.	NM_017837.4(PIGV):c.607C>T (p.Arg203Cys) GRCh37: Chr1:27121132 GRCh38: Chr1:26794641	PIGV	R203C, R76C	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic/Likely pathogenic (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73355725.	NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) GRCh37: Chr1:27120998 GRCh38: Chr1:26794507	PIGV	S31N, S158N	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69469426.	NM_032634.4(PIGO):c.2397A>C (p.Gln799His) GRCh37: Chr9:35091487 GRCh38: Chr9:35091490	PIGO	Q799H	Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic	criteria provided, single submitter
Select item 62599427.	NM_017837.4(PIGV):c.728T>C (p.Leu243Pro) GRCh37: Chr1:27121253 GRCh38: Chr1:26794762	PIGV	L243P, L116P	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 56108228.	NM_004855.5(PIGB):c.1220A>G (p.His407Arg) GRCh37: Chr15:55642993 GRCh38: Chr15:55350795	PIGB	H407R	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter
Select item 54794329.	NM_017837.4(PIGV):c.55C>T (p.Arg19Cys) GRCh37: Chr1:27117361 GRCh38: Chr1:26790870	PIGV	R19C	Hyperphosphatasia with intellectual disability syndrome 1	Likely pathogenic (Jan 27, 2017)	criteria provided, single submitter
Select item 50745030.	NM_017837.4(PIGV):c.809G>A (p.Arg270His) GRCh37: Chr1:27121334 GRCh38: Chr1:26794843	PIGV	R270H, R143H, R61H	not provided, not specified, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 45121531.	NM_017837.4(PIGV):c.1147G>A (p.Val383Met) GRCh37: Chr1:27121672 GRCh38: Chr1:26795181	PIGV	V383M, V174M, V256M	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 44965932.	NM_017837.4(PIGV):c.115G>A (p.Glu39Lys) GRCh37: Chr1:27120640 GRCh38: Chr1:26794149	PIGV	E39K	Inborn genetic diseases, Hyperphosphatasia with intellectual disability syndrome 1, not provided	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 42655233.	NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) GRCh37: Chr1:27124222 GRCh38: Chr1:26797731	PIGV	L457F, L248F, L330F, L83F	not provided, Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases, not specified	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 42166234.	NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) GRCh37: Chr1:27121139 GRCh38: Chr1:26794648	PIGV	N205S, N78S	not provided, Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Jul 10, 2023)	criteria provided, conflicting interpretations
Select item 38415335.	NM_017837.4(PIGV):c.879G>A (p.Pro293=) GRCh37: Chr1:27121404 GRCh38: Chr1:26794913	PIGV		not provided, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Oct 14, 2022)	criteria provided, conflicting interpretations
Select item 38293536.	NM_017837.4(PIGV):c.615C>T (p.Asn205=) GRCh37: Chr1:27121140 GRCh38: Chr1:26794649	PIGV		not specified, not provided, Hyperphosphatasia with intellectual disability syndrome 1	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37836637.	NM_017837.4(PIGV):c.872A>G (p.Asn291Ser) GRCh37: Chr1:27121397 GRCh38: Chr1:26794906	PIGV	N291S, N164S, N82S	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 29713138.	NM_017837.4(PIGV):c.*453A>T GRCh37: Chr1:27124788 GRCh38: Chr1:26798297	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29713039.	NM_017837.4(PIGV):c.*441C>T GRCh37: Chr1:27124776 GRCh38: Chr1:26798285	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29712940.	NM_017837.4(PIGV):c.*385A>T GRCh37: Chr1:27124720 GRCh38: Chr1:26798229	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29712841.	NM_017837.4(PIGV):c.*367A>G GRCh37: Chr1:27124702 GRCh38: Chr1:26798211	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29712742.	NM_017837.4(PIGV):c.*210A>G GRCh37: Chr1:27124545 GRCh38: Chr1:26798054	PIGV		not provided, Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 29712643.	NM_017837.4(PIGV):c.*186G>T GRCh37: Chr1:27124521 GRCh38: Chr1:26798030	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29712544.	NM_017837.4(PIGV):c.*149G>A GRCh37: Chr1:27124484 GRCh38: Chr1:26797993	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29712445.	NM_017837.4(PIGV):c.*110T>C GRCh37: Chr1:27124445 GRCh38: Chr1:26797954	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29712346.	NM_017837.4(PIGV):c.1477A>G (p.Thr493Ala) GRCh37: Chr1:27124330 GRCh38: Chr1:26797839	PIGV	T493A, T119A, T284A, T366A	Hyperphosphatasia with intellectual disability syndrome 1, not provided	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 29712247.	NM_017837.4(PIGV):c.1464C>T (p.Asn488=) GRCh37: Chr1:27124317 GRCh38: Chr1:26797826	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29712148.	NM_017837.4(PIGV):c.1213T>A (p.Phe405Ile) GRCh37: Chr1:27124066 GRCh38: Chr1:26797575	PIGV	F405I, F196I, F278I, F31I	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 29712049.	NM_017837.4(PIGV):c.1008A>G (p.Ile336Met) GRCh37: Chr1:27121533 GRCh38: Chr1:26795042	PIGV	I336M, I127M, I209M	Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29711950.	NM_017837.4(PIGV):c.851G>A (p.Gly284Asp) GRCh37: Chr1:27121376 GRCh38: Chr1:26794885	PIGV	G284D, G157D, G75D	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29711851.	NM_017837.4(PIGV):c.808C>T (p.Arg270Cys) GRCh37: Chr1:27121333 GRCh38: Chr1:26794842	PIGV	R270C, R143C, R61C	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jul 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29711752.	NM_017837.4(PIGV):c.531A>T (p.Thr177=) GRCh37: Chr1:27121056 GRCh38: Chr1:26794565	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29711653.	NM_017837.4(PIGV):c.349A>G (p.Ile117Val) GRCh37: Chr1:27120874 GRCh38: Chr1:26794383	PIGV	I117V	not provided, not specified, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 29711554.	NM_017837.4(PIGV):c.348G>A (p.Leu116=) GRCh37: Chr1:27120873 GRCh38: Chr1:26794382	PIGV		not provided, Hyperphosphatasia with intellectual disability syndrome 1, not specified	Conflicting interpretations of pathogenicity (Mar 1, 2023)	criteria provided, conflicting interpretations
Select item 29711455.	NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) GRCh37: Chr1:27120626 GRCh38: Chr1:26794135	PIGV	P34L	not provided, Hyperphosphatasia with intellectual disability syndrome 1, not specified	Benign/Likely benign (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 29711356.	NM_017837.4(PIGV):c.-57-6G>A GRCh37: Chr1:27117244 GRCh38: Chr1:26790753	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29711257.	NM_017837.4(PIGV):c.-323C>T GRCh37: Chr1:27114494 GRCh38: Chr1:26788003	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 29711158.	NM_017837.4(PIGV):c.-333C>T GRCh37: Chr1:27114484 GRCh38: Chr1:26787993	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 29711059.	NM_017837.4(PIGV):c.-338A>C GRCh37: Chr1:27114479 GRCh38: Chr1:26787988	PIGV		Hyperphosphatasia with intellectual disability syndrome 1	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 28920260.	NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) GRCh37: Chr1:27120873-27120874 GRCh38: Chr1:26794382-26794383	PIGV	I117V	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Nov 2, 2022)	criteria provided, conflicting interpretations
Select item 28823661.	NM_017837.4(PIGV):c.134G>A (p.Arg45His) GRCh37: Chr1:27120659 GRCh38: Chr1:26794168	PIGV	R45H	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22563862.	NM_001127178.3(PIGG):c.2005C>T (p.Arg669Cys) GRCh37: Chr4:517638 GRCh38: Chr4:523849	PIGG	R669C, R303C, R326C, R661C, R158C, R536C, R572C, R580C	Intellectual disability, autosomal recessive 53, not provided, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Jun 29, 2023)	criteria provided, conflicting interpretations
Select item 19731463.	NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) GRCh37: Chr1:27124130 GRCh38: Chr1:26797639	PIGV	P426L, P217L, P299L, P52L	not provided, Hyperphosphatasia with intellectual disability syndrome 1	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 13566264.	NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) GRCh37: Chr1:27121019 GRCh38: Chr1:26794528	PIGV	A165E, A38E	not provided, PIGV-related disorders	Conflicting interpretations of pathogenicity (Aug 3, 2022)	criteria provided, conflicting interpretations
Select item 3082165.	NM_017837.4(PIGV):c.467G>A (p.Cys156Tyr) GRCh37: Chr1:27120992 GRCh38: Chr1:26794501	PIGV	C156Y, C29Y	not provided	Likely pathogenic (Jun 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 128766.	NM_017837.4(PIGV):c.1022C>T (p.Ala341Val) GRCh37: Chr1:27121547 GRCh38: Chr1:26795056	PIGV	A341V, A132V, A214V	Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 128667.	NM_017837.4(PIGV):c.766C>A (p.Gln256Lys) GRCh37: Chr1:27121291 GRCh38: Chr1:26794800	PIGV	Q256K, Q129K	Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 128568.	NM_017837.4(PIGV):c.1154A>C (p.His385Pro) GRCh37: Chr1:27121679 GRCh38: Chr1:26795188	PIGV	H385P, H176P, H258P	Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 128469.	NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu) GRCh37: Chr1:27121547 GRCh38: Chr1:26795056	PIGV	A341E, A132E, A214E	Inborn genetic diseases, Hyperphosphatasia-intellectual disability syndrome, not provided, Hyperphosphatasia with intellectual disability syndrome 1	Pathogenic/Likely pathogenic (Sep 15, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 69