51099[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26276771.	NM_001346468.2(ANO10):c.-12+87_-12+2943del GRCh37: Chr3:43730066-43732922 GRCh38: Chr3:43688574-43691430	ABHD5, ANO10, LOC129936580		Triglyceride storage disease with ichthyosis	Likely pathogenic (Nov 1, 2023)	criteria provided, single submitter
Select item 13330462.	NM_001346468.2(ANO10):c.-12+823T>A GRCh37: Chr3:43732186 GRCh38: Chr3:43690694	ABHD5, ANO10		not provided	Likely benign (Jul 15, 2018)	criteria provided, single submitter
Select item 6739143.	NM_001346468.2(ANO10):c.-12+818A>T GRCh37: Chr3:43732191 GRCh38: Chr3:43690699	ABHD5, ANO10		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 6704364.	NM_001346468.2(ANO10):c.-12+772G>A GRCh37: Chr3:43732237 GRCh38: Chr3:43690745	ABHD5, ANO10		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 6704375.	NM_001346468.2(ANO10):c.-12+766C>T GRCh37: Chr3:43732243 GRCh38: Chr3:43690751	ABHD5, ANO10		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 12189496.	NM_001346468.2(ANO10):c.-12+694C>T GRCh37: Chr3:43732315 GRCh38: Chr3:43690823	ANO10, ABHD5		not provided	Likely benign (Sep 26, 2018)	criteria provided, single submitter
Select item 3694207.	NM_016006.5(ABHD5):c.-114A>G GRCh37: Chr3:43732371 GRCh38: Chr3:43690879	ANO10, ABHD5		Triglyceride storage disease with ichthyosis, not provided	Benign/Likely benign (Jun 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3452068.	NM_016006.5(ABHD5):c.-98C>A GRCh37: Chr3:43732387 GRCh38: Chr3:43690895	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 3452079.	NM_016006.5(ABHD5):c.-91C>G GRCh37: Chr3:43732394 GRCh38: Chr3:43690902	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34520810.	NM_016006.5(ABHD5):c.-68C>G GRCh37: Chr3:43732417 GRCh38: Chr3:43690925	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34520911.	NM_016006.5(ABHD5):c.-65G>C GRCh37: Chr3:43732420 GRCh38: Chr3:43690928	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34521012.	NM_016006.5(ABHD5):c.-64G>A GRCh37: Chr3:43732421 GRCh38: Chr3:43690929	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90133213.	NM_016006.6(ABHD5):c.-48C>T GRCh37: Chr3:43732437 GRCh38: Chr3:43690945	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34521114.	NM_016006.6(ABHD5):c.-30A>G GRCh37: Chr3:43732455 GRCh38: Chr3:43690963	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 34521215.	NM_016006.6(ABHD5):c.-24C>T GRCh37: Chr3:43732461 GRCh38: Chr3:43690969	ABHD5, ANO10		Triglyceride storage disease with ichthyosis	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34521316.	NM_016006.6(ABHD5):c.-19C>T GRCh37: Chr3:43732466 GRCh38: Chr3:43690974	ABHD5, ANO10		not provided, Triglyceride storage disease with ichthyosis	Benign (Jun 18, 2018)	criteria provided, multiple submitters, no conflicts
Select item 218987417.	NM_016006.6(ABHD5):c.5CGG[3] (p.Ala3_Glu4insAla) GRCh37: Chr3:43732486-43732487 GRCh38: Chr3:43690994-43690995	ANO10, ABHD5		not provided	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 90188118.	NM_016006.6(ABHD5):c.11A>C (p.Glu4Ala) GRCh37: Chr3:43732495 GRCh38: Chr3:43691003	ABHD5, ANO10	E4A	Triglyceride storage disease with ichthyosis, not provided	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 34521419.	NM_016006.6(ABHD5):c.12G>A (p.Glu4=) GRCh37: Chr3:43732496 GRCh38: Chr3:43691004	ABHD5, ANO10		Triglyceride storage disease with ichthyosis, not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139936520.	NM_016006.6(ABHD5):c.13G>A (p.Glu5Lys) GRCh37: Chr3:43732497 GRCh38: Chr3:43691005	ABHD5, ANO10	E5K	not provided	Uncertain significance (Nov 24, 2021)	criteria provided, single submitter
Select item 142512021.	NM_016006.6(ABHD5):c.14A>C (p.Glu5Ala) GRCh37: Chr3:43732498 GRCh38: Chr3:43691006	ABHD5, ANO10	E5A	not provided	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 52380022.	NM_016006.6(ABHD5):c.16G>T (p.Glu6Ter) GRCh37: Chr3:43732500 GRCh38: Chr3:43691008	ABHD5, ANO10	E6*	not provided	Pathogenic (Nov 6, 2017)	criteria provided, single submitter
Select item 535123.	NM_016006.6(ABHD5):c.19G>A (p.Glu7Lys) GRCh37: Chr3:43732503 GRCh38: Chr3:43691011	ABHD5, ANO10	E7K	not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 217638924.	NM_016006.6(ABHD5):c.21G>A (p.Glu7=) GRCh37: Chr3:43732505 GRCh38: Chr3:43691013	ABHD5, ANO10		not provided	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 211989025.	NM_016006.6(ABHD5):c.25G>T (p.Asp9Tyr) GRCh37: Chr3:43732509 GRCh38: Chr3:43691017	ABHD5, ANO10	D9Y	not provided	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 193495326.	NM_016006.6(ABHD5):c.26A>T (p.Asp9Val) GRCh37: Chr3:43732510 GRCh38: Chr3:43691018	ABHD5, ANO10	D9V	not provided	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 34521527.	NM_016006.6(ABHD5):c.26A>G (p.Asp9Gly) GRCh37: Chr3:43732510 GRCh38: Chr3:43691018	ABHD5, ANO10	D9G	not provided, Triglyceride storage disease with ichthyosis	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152446528.	NM_016006.6(ABHD5):c.28T>A (p.Ser10Thr) GRCh37: Chr3:43732512 GRCh38: Chr3:43691020	ABHD5, ANO10	S10T	not provided	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 155814929.	NM_016006.6(ABHD5):c.33C>T (p.Ala11=) GRCh37: Chr3:43732517 GRCh38: Chr3:43691025	ABHD5, ANO10		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 80947430.	NM_016006.6(ABHD5):c.34G>A (p.Asp12Asn) GRCh37: Chr3:43732518 GRCh38: Chr3:43691026	ABHD5, ANO10	D12N	Inborn genetic diseases, not provided	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34521631.	NM_016006.6(ABHD5):c.39C>T (p.Thr13=) GRCh37: Chr3:43732523 GRCh38: Chr3:43691031	ABHD5, ANO10		not provided, Triglyceride storage disease with ichthyosis	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 200108532.	NM_016006.6(ABHD5):c.40G>C (p.Gly14Arg) GRCh37: Chr3:43732524 GRCh38: Chr3:43691032	ABHD5, ANO10	G14R	not provided	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 535433.	NM_016006.6(ABHD5):c.46_47del (p.Arg16fs) GRCh37: Chr3:43732525-43732526 GRCh38: Chr3:43691033-43691034	ABHD5, ANO10	R16fs	Triglyceride storage disease with ichthyosis	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 90188234.	NM_016006.6(ABHD5):c.43G>A (p.Glu15Lys) GRCh37: Chr3:43732527 GRCh38: Chr3:43691035	ANO10, ABHD5	E15K	Triglyceride storage disease with ichthyosis, not provided	Uncertain significance (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199435035.	NM_016006.6(ABHD5):c.44A>G (p.Glu15Gly) GRCh37: Chr3:43732528 GRCh38: Chr3:43691036	ABHD5, ANO10	E15G	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 219039136.	NM_016006.6(ABHD5):c.47+6C>A GRCh37: Chr3:43732537 GRCh38: Chr3:43691045	ABHD5, ANO10		not provided	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 198862537.	NM_016006.6(ABHD5):c.47+6C>T GRCh37: Chr3:43732537 GRCh38: Chr3:43691045	ABHD5, ANO10		not provided	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 199033738.	NM_016006.6(ABHD5):c.47+13G>A GRCh37: Chr3:43732544 GRCh38: Chr3:43691052	ABHD5, ANO10		not provided	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 192517339.	NM_016006.6(ABHD5):c.47+19G>T GRCh37: Chr3:43732550 GRCh38: Chr3:43691058	ABHD5, ANO10		not provided	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 156137840.	NM_016006.6(ABHD5):c.47+19G>C GRCh37: Chr3:43732550 GRCh38: Chr3:43691058	ABHD5, ANO10		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 212579541.	NM_016006.6(ABHD5):c.47+20G>C GRCh37: Chr3:43732551 GRCh38: Chr3:43691059	ABHD5, ANO10		not provided	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 125148842.	NM_016006.6(ABHD5):c.47+59G>A GRCh37: Chr3:43732590 GRCh38: Chr3:43691098	ABHD5, ANO10		not provided	Benign (Dec 31, 2018)	criteria provided, single submitter
Select item 120528143.	NM_016006.6(ABHD5):c.48-203T>C GRCh37: Chr3:43740565 GRCh38: Chr3:43699073	ABHD5		not provided	Likely benign (Jan 7, 2019)	criteria provided, single submitter
Select item 201919544.	NM_016006.6(ABHD5):c.48-20T>C GRCh37: Chr3:43740748 GRCh38: Chr3:43699256	ABHD5		not provided	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 200439045.	NM_016006.6(ABHD5):c.48-6C>T GRCh37: Chr3:43740762 GRCh38: Chr3:43699270	ABHD5		not provided	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 74828246.	NM_016006.6(ABHD5):c.48-4C>G GRCh37: Chr3:43740764 GRCh38: Chr3:43699272	ABHD5		not provided, Triglyceride storage disease with ichthyosis	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 195734047.	NM_016006.6(ABHD5):c.63T>C (p.Thr21=) GRCh37: Chr3:43740783 GRCh38: Chr3:43699291	ABHD5		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 207119348.	NM_016006.6(ABHD5):c.66T>C (p.Gly22=) GRCh37: Chr3:43740786 GRCh38: Chr3:43699294	ABHD5		not provided	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 135907249.	NM_016006.6(ABHD5):c.70C>T (p.Leu24Phe) GRCh37: Chr3:43740790 GRCh38: Chr3:43699298	ABHD5	L24F	not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 215395650.	NM_016006.6(ABHD5):c.87T>C (p.Pro29=) GRCh37: Chr3:43740807 GRCh38: Chr3:43699315	ABHD5		not provided	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 246446151.	NM_016006.6(ABHD5):c.89C>T (p.Thr30Met) GRCh37: Chr3:43740809 GRCh38: Chr3:43699317	ABHD5	T30M	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 217826652.	NM_016006.6(ABHD5):c.90G>A (p.Thr30=) GRCh37: Chr3:43740810 GRCh38: Chr3:43699318	ABHD5		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 534853.	NM_016006.6(ABHD5):c.98C>G (p.Ser33Ter) GRCh37: Chr3:43740818 GRCh38: Chr3:43699326	ABHD5	S33*	Triglyceride storage disease with ichthyosis	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 262874154.	NM_016006.6(ABHD5):c.133+1G>A GRCh37: Chr3:43740854 GRCh38: Chr3:43699362	ABHD5		ABHD5-related condition	Likely pathogenic (Mar 30, 2023)	criteria provided, single submitter
Select item 139403755.	NM_016006.6(ABHD5):c.133+6G>A GRCh37: Chr3:43740859 GRCh38: Chr3:43699367	ABHD5		not provided	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 194306456.	NM_016006.6(ABHD5):c.133+20A>G GRCh37: Chr3:43740873 GRCh38: Chr3:43699381	ABHD5		not provided	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 127017957.	NM_016006.6(ABHD5):c.134-197C>A GRCh37: Chr3:43743510 GRCh38: Chr3:43702018	ABHD5		not provided	Benign (Jul 26, 2019)	criteria provided, single submitter
Select item 192111458.	NM_016006.6(ABHD5):c.134-11G>C GRCh37: Chr3:43743696 GRCh38: Chr3:43702204	ABHD5		not provided	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 534959.	NM_016006.6(ABHD5):c.134-2A>G GRCh37: Chr3:43743705 GRCh38: Chr3:43702213	ABHD5		Triglyceride storage disease with ichthyosis	Pathogenic (Nov 1, 2001)	no assertion criteria provided
Select item 194658060.	NM_016006.6(ABHD5):c.140C>T (p.Pro47Leu) GRCh37: Chr3:43743713 GRCh38: Chr3:43702221	ABHD5	P47L, P6L	not provided	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 190592761.	NM_016006.6(ABHD5):c.145A>G (p.Thr49Ala) GRCh37: Chr3:43743718 GRCh38: Chr3:43702226	ABHD5	T8A, T49A	not provided, Inborn genetic diseases	Uncertain significance (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190162762.	NM_016006.6(ABHD5):c.167G>A (p.Arg56His) GRCh37: Chr3:43743740 GRCh38: Chr3:43702248	ABHD5	R15H, R56H	not provided	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 204806963.	NM_016006.6(ABHD5):c.169A>G (p.Ile57Val) GRCh37: Chr3:43743742 GRCh38: Chr3:43702250	ABHD5	I57V, I16V	not provided	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 163217364.	NM_016006.6(ABHD5):c.195A>G (p.Thr65=) GRCh37: Chr3:43743768 GRCh38: Chr3:43702276	ABHD5		not provided	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 90278065.	NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn) GRCh37: Chr3:43743774 GRCh38: Chr3:43702282	ABHD5	K26N, K67N	not provided, Triglyceride storage disease with ichthyosis	Uncertain significance (Mar 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71684566.	NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) GRCh37: Chr3:43743775 GRCh38: Chr3:43702283	ABHD5	F27L, F68L	not provided, Triglyceride storage disease with ichthyosis	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72487867.	NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) GRCh37: Chr3:43743788 GRCh38: Chr3:43702296	ABHD5	I72T, I31T	not provided, Triglyceride storage disease with ichthyosis	Benign/Likely benign (Sep 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 199190568.	NM_016006.6(ABHD5):c.221A>G (p.Asn74Ser) GRCh37: Chr3:43743794 GRCh38: Chr3:43702302	ABHD5	N33S, N74S	not provided	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 152888469.	NM_016006.6(ABHD5):c.228T>C (p.Thr76=) GRCh37: Chr3:43743801 GRCh38: Chr3:43702309	ABHD5		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 34521770.	NM_016006.6(ABHD5):c.228T>G (p.Thr76=) GRCh37: Chr3:43743801 GRCh38: Chr3:43702309	ABHD5		not provided, Triglyceride storage disease with ichthyosis	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 165133171.	NM_016006.6(ABHD5):c.258A>C (p.Gly86=) GRCh37: Chr3:43743831 GRCh38: Chr3:43702339	ABHD5		not provided, Triglyceride storage disease with ichthyosis	Conflicting interpretations of pathogenicity (Jul 24, 2022)	criteria provided, conflicting interpretations
Select item 199183672.	NM_016006.6(ABHD5):c.262C>G (p.Leu88Val) GRCh37: Chr3:43743835 GRCh38: Chr3:43702343	ABHD5	L47V, L88V	not provided	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 196135373.	NM_016006.6(ABHD5):c.295T>G (p.Cys99Gly) GRCh37: Chr3:43743868 GRCh38: Chr3:43702376	ABHD5	C99G, C58G	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 220396374.	NM_016006.6(ABHD5):c.299C>G (p.Thr100Ser) GRCh37: Chr3:43743872 GRCh38: Chr3:43702380	ABHD5	T100S, T59S	Inborn genetic diseases	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 206818275.	NM_016006.6(ABHD5):c.300C>G (p.Thr100=) GRCh37: Chr3:43743873 GRCh38: Chr3:43702381	ABHD5		not provided	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202977476.	NM_016006.6(ABHD5):c.314A>G (p.Tyr105Cys) GRCh37: Chr3:43743887 GRCh38: Chr3:43702395	ABHD5	Y105C, Y64C	not provided	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 192805177.	NM_016006.6(ABHD5):c.324C>T (p.Asp108=) GRCh37: Chr3:43743897 GRCh38: Chr3:43702405	ABHD5		not provided	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 214877278.	NM_016006.6(ABHD5):c.327A>G (p.Leu109=) GRCh37: Chr3:43743900 GRCh38: Chr3:43702408	ABHD5		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 211039279.	NM_016006.6(ABHD5):c.328T>C (p.Leu110=) GRCh37: Chr3:43743901 GRCh38: Chr3:43702409	ABHD5		not provided	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 257248680.	NM_016006.6(ABHD5):c.337G>A (p.Gly113Arg) GRCh37: Chr3:43743910 GRCh38: Chr3:43702418	ABHD5	G113R, G72R	Triglyceride storage disease with ichthyosis	Uncertain significance	criteria provided, single submitter
Select item 52380181.	NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter) GRCh37: Chr3:43743913 GRCh38: Chr3:43702421	ABHD5	R114, R73	not provided	Pathogenic (Feb 6, 2018)	criteria provided, single submitter
Select item 44594782.	NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) GRCh37: Chr3:43743914 GRCh38: Chr3:43702422	ABHD5	R114L, R73L	not provided, Triglyceride storage disease with ichthyosis	Benign/Likely benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58741883.	NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) GRCh37: Chr3:43743917 GRCh38: Chr3:43702425	ABHD5	S115N, S74N	Triglyceride storage disease with ichthyosis	Uncertain significance (Aug 7, 2018)	criteria provided, single submitter
Select item 34521884.	NM_016006.6(ABHD5):c.345T>C (p.Ser115=) GRCh37: Chr3:43743918 GRCh38: Chr3:43702426	ABHD5		Triglyceride storage disease with ichthyosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 221846285.	NM_016006.6(ABHD5):c.352C>A (p.Pro118Thr) GRCh37: Chr3:43743925 GRCh38: Chr3:43702433	ABHD5	P118T, P77T	Inborn genetic diseases	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 240373586.	NM_016006.6(ABHD5):c.362A>T (p.Asp121Val) GRCh37: Chr3:43743935 GRCh38: Chr3:43702443	ABHD5	D80V, D121V	Inborn genetic diseases	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 209989787.	NM_016006.6(ABHD5):c.379G>A (p.Val127Met) GRCh37: Chr3:43743952 GRCh38: Chr3:43702460	ABHD5	V127M, V86M	not provided	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 197632288.	NM_016006.6(ABHD5):c.386A>G (p.Asn129Ser) GRCh37: Chr3:43743959 GRCh38: Chr3:43702467	ABHD5	N129S, N88S	not provided	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 535089.	NM_016006.6(ABHD5):c.389A>C (p.Gln130Pro) GRCh37: Chr3:43743962 GRCh38: Chr3:43702470	ABHD5	Q130P, Q89P	Triglyceride storage disease with ichthyosis	Pathogenic (Jul 16, 2004)	no assertion criteria provided
Select item 242164890.	NM_016006.6(ABHD5):c.396G>A (p.Val132=) GRCh37: Chr3:43743969 GRCh38: Chr3:43702477	ABHD5		not provided	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 137208291.	NM_016006.6(ABHD5):c.399A>C (p.Glu133Asp) GRCh37: Chr3:43743972 GRCh38: Chr3:43702480	ABHD5	E92D, E133D	Inborn genetic diseases, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143065592.	NM_016006.6(ABHD5):c.403A>G (p.Ile135Val) GRCh37: Chr3:43743976 GRCh38: Chr3:43702484	ABHD5	I135V, I94V	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 190303493.	NM_016006.6(ABHD5):c.411G>A (p.Glu137=) GRCh37: Chr3:43743984 GRCh38: Chr3:43702492	ABHD5		not provided	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 229936294.	NM_016006.6(ABHD5):c.412T>C (p.Trp138Arg) GRCh37: Chr3:43743985 GRCh38: Chr3:43702493	ABHD5	W138R, W97R	Inborn genetic diseases	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 90278195.	NM_016006.6(ABHD5):c.418T>G (p.Cys140Gly) GRCh37: Chr3:43743991 GRCh38: Chr3:43702499	ABHD5	C140G, C99G	Triglyceride storage disease with ichthyosis	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34521996.	NM_016006.6(ABHD5):c.430T>C (p.Leu144=) GRCh37: Chr3:43744003 GRCh38: Chr3:43702511	ABHD5		not provided, Triglyceride storage disease with ichthyosis	Conflicting interpretations of pathogenicity (Apr 8, 2022)	criteria provided, conflicting interpretations
Select item 206144097.	NM_016006.6(ABHD5):c.432G>A (p.Leu144=) GRCh37: Chr3:43744005 GRCh38: Chr3:43702513	ABHD5		not provided	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 191256698.	NM_016006.6(ABHD5):c.442A>T (p.Ile148Phe) GRCh37: Chr3:43744015 GRCh38: Chr3:43702523	ABHD5	I107F, I148F	not provided	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 90023599.	NM_016006.6(ABHD5):c.444C>T (p.Ile148=) GRCh37: Chr3:43744017 GRCh38: Chr3:43702525	ABHD5		Triglyceride storage disease with ichthyosis	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 2095972100.	NM_016006.6(ABHD5):c.463G>C (p.Gly155Arg) GRCh37: Chr3:43744036 GRCh38: Chr3:43702544	ABHD5	G114R, G155R	not provided	Uncertain significance (May 5, 2022)	criteria provided, single submitter

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