ClinVar for MedGen (Select 67398) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25038741.	NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Apr 28, 2023)	criteria provided, single submitter
Select item 25007222.	NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA GRCh37: Chr9:35658018-35658019 GRCh38: Chr9:35658021-35658022	RMRP		Metaphyseal chondrodysplasia, McKusick type	Pathogenic	criteria provided, single submitter
Select item 21755953.	NR_003051.4(RMRP):n.120A>G GRCh37: Chr9:35657897 GRCh38: Chr9:35657900	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Uncertain significance (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18022074.	NR_003051.4(RMRP):n.223G>T GRCh37: Chr9:35657794 GRCh38: Chr9:35657797	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia 1	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17234245.	NC_000009.11:g.35658021_35658035dup15 GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 16985116.	NC_000009.11:g.35658023_35658034dup12 GRCh37: Chr9:35658022-35658023 GRCh38: Chr9:35658025-35658026	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 16960637.	NC_000009.11:g.35658018_35658034[3] GRCh37: Chr9:35658017-35658018 GRCh38: Chr9:35658020-35658021	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (May 25, 2022)	criteria provided, single submitter
Select item 16834598.	NR_003051.4(RMRP):n.77C>T GRCh37: Chr9:35657940 GRCh38: Chr9:35657943	RMRP		Metaphyseal chondrodysplasia, McKusick type	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 16834189.	NC_000009.11:g.35658023_35658029dupCAGCTTC GRCh37: Chr9:35658022-35658023 GRCh38: Chr9:35658025-35658026	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 167723710.	NC_000009.11:g.35658019TCCTCAGCTTCACAGA[3] GRCh37: Chr9:35658018-35658019 GRCh38: Chr9:35658021-35658022	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Mar 31, 2022)	criteria provided, single submitter
Select item 167512011.	NR_003051.4(RMRP):n.92A>G GRCh37: Chr9:35657925 GRCh38: Chr9:35657928	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151554712.	NR_003051.3(RMRP):n.-12dup GRCh37: Chr9:35658026-35658027 GRCh38: Chr9:35658029-35658030	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia 1	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148455813.	NR_003051.3(RMRP):n.-2G>T GRCh37: Chr9:35658017 GRCh38: Chr9:35658020	RMRP		Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1, Anauxetic dysplasia	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142640714.	NR_003051.4(RMRP):n.94dup GRCh37: Chr9:35657922-35657923 GRCh38: Chr9:35657925-35657926	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142220015.	NR_003051.3(RMRP):n.-18C>T GRCh37: Chr9:35658033 GRCh38: Chr9:35658036	RMRP		Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1, Anauxetic dysplasia	Uncertain significance (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130138616.	NC_000009.11:g.35658021delinsTTCAGCTTCACAGAGTAGTA GRCh37: Chr9:35658021 GRCh38: Chr9:35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Sep 14, 2021)	criteria provided, single submitter
Select item 129914317.	NC_000009.12:g.35658022_35658032dup GRCh37: Chr9:35658018-35658019 GRCh38: Chr9:35658021-35658022	RMRP		not provided, Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116999718.	NR_003051.3(RMRP):n.-5G>A GRCh37: Chr9:35658020 GRCh38: Chr9:35658023	RMRP		Anauxetic dysplasia, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106742919.	NR_003051.4(RMRP):n.129G>A GRCh37: Chr9:35657888 GRCh38: Chr9:35657891	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106726520.	NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC GRCh37: Chr9:35658024-35658025 GRCh38: Chr9:35658027-35658028	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic/Likely pathogenic (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106699821.	NR_003051.3(RMRP):n.-20_-12dup GRCh37: Chr9:35658026-35658027 GRCh38: Chr9:35658029-35658030	RMRP		Anauxetic dysplasia	Pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 106655322.	NR_003051.3(RMRP):n.-20_-8dup GRCh37: Chr9:35658022-35658023 GRCh38: Chr9:35658025-35658026	RMRP		Anauxetic dysplasia	Likely pathogenic (Jul 29, 2021)	criteria provided, single submitter
Select item 106595323.	NC_000009.12:g.35658023_35658038dup GRCh37: Chr9:35658019-35658020 GRCh38: Chr9:35658022-35658023	RMRP		not provided, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106514224.	NC_000009.12:g.35658025_35658039dup GRCh37: Chr9:35658021-35658022 GRCh38: Chr9:35658024-35658025	RMRP		Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia	Likely pathogenic (Jul 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106000025.	NR_003051.4(RMRP):n.87C>T GRCh37: Chr9:35657930 GRCh38: Chr9:35657933	RMRP		Anauxetic dysplasia, not specified	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105438426.	NR_003051.3(RMRP):n.-9T>C GRCh37: Chr9:35658024 GRCh38: Chr9:35658027	RMRP		Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis	Uncertain significance (Jul 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105149727.	NR_003051.4(RMRP):n.167T>G GRCh37: Chr9:35657850 GRCh38: Chr9:35657853	RMRP		Anauxetic dysplasia	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 105101628.	NR_003051.4(RMRP):n.2G>C GRCh37: Chr9:35658015 GRCh38: Chr9:35658018	RMRP		Anauxetic dysplasia	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 104592429.	NR_003051.4(RMRP):n.162C>G GRCh37: Chr9:35657855 GRCh38: Chr9:35657858	RMRP		Anauxetic dysplasia	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 104526630.	NR_003051.3(RMRP):n.-23C>A GRCh37: Chr9:35658038 GRCh38: Chr9:35658041	RMRP		Anauxetic dysplasia	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 104061631.	NR_003051.4(RMRP):n.7G>C GRCh37: Chr9:35658010 GRCh38: Chr9:35658013	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 103982332.	NR_003051.4(RMRP):n.262G>A GRCh37: Chr9:35657755 GRCh38: Chr9:35657758	RMRP		Anauxetic dysplasia, not specified	Uncertain significance (Aug 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103637433.	NR_003051.4(RMRP):n.152A>G GRCh37: Chr9:35657865 GRCh38: Chr9:35657868	RMRP		Anauxetic dysplasia	Uncertain significance (Apr 23, 2020)	criteria provided, single submitter
Select item 102277134.	NR_003051.4(RMRP):n.235A>G GRCh37: Chr9:35657782 GRCh38: Chr9:35657785	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 28, 2022)	criteria provided, single submitter
Select item 102087135.	NR_003051.3(RMRP):n.-7A>T GRCh37: Chr9:35658022 GRCh38: Chr9:35658025	RMRP		Anauxetic dysplasia	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 102056736.	NR_003051.4(RMRP):n.134C>T GRCh37: Chr9:35657883 GRCh38: Chr9:35657886	RMRP		Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101999637.	NR_003051.3(RMRP):n.-8G>A GRCh37: Chr9:35658023 GRCh38: Chr9:35658026	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 101465038.	NR_003051.4(RMRP):n.51C>T GRCh37: Chr9:35657966 GRCh38: Chr9:35657969	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 101446139.	NR_003051.4(RMRP):n.206C>T GRCh37: Chr9:35657811 GRCh38: Chr9:35657814	RMRP		Anauxetic dysplasia	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 100819840.	NR_003051.4(RMRP):n.187C>A GRCh37: Chr9:35657830 GRCh38: Chr9:35657833	RMRP		Anauxetic dysplasia	Uncertain significance (Jul 18, 2022)	criteria provided, single submitter
Select item 100811041.	NR_003051.4(RMRP):n.18C>T GRCh37: Chr9:35657999 GRCh38: Chr9:35658002	RMRP		Anauxetic dysplasia	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 100608942.	NR_003051.4(RMRP):n.158G>A GRCh37: Chr9:35657859 GRCh38: Chr9:35657862	RMRP		Anauxetic dysplasia	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 99895543.	NR_003051.4(RMRP):n.243C>T GRCh37: Chr9:35657774 GRCh38: Chr9:35657777	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 99166544.	NR_003051.3(RMRP):n.-16G>A GRCh37: Chr9:35658031 GRCh38: Chr9:35658034	RMRP		Anauxetic dysplasia	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 99166445.	NR_003051.4(RMRP):n.60T>C GRCh37: Chr9:35657957 GRCh38: Chr9:35657960	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 99166346.	NR_003051.4(RMRP):n.117T>G GRCh37: Chr9:35657900 GRCh38: Chr9:35657903	RMRP		Metaphyseal chondrodysplasia, McKusick type	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99166247.	NR_003051.4(RMRP):n.137C>T GRCh37: Chr9:35657880 GRCh38: Chr9:35657883	RMRP		Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99166148.	NR_003051.4(RMRP):n.229C>T GRCh37: Chr9:35657788 GRCh38: Chr9:35657791	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 98452149.	NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC GRCh37: Chr9:35658024-35658025 GRCh38: Chr9:35658027-35658028	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Oct 22, 2020)	criteria provided, single submitter
Select item 98445550.	NR_003051.3(RMRP):n.-17_-5dup13 GRCh37: Chr9:35658019-35658020 GRCh38: Chr9:35658022-35658023	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Oct 28, 2020)	criteria provided, single submitter
Select item 97499751.	NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jul 28, 2020)	criteria provided, single submitter
Select item 97496352.	NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA GRCh37: Chr9:35658021-35658022 GRCh38: Chr9:35658024-35658025	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jul 31, 2020)	criteria provided, single submitter
Select item 97495353.	NR_003051.3(RMRP):n.-20_-7dup14 GRCh37: Chr9:35658021-35658022 GRCh38: Chr9:35658024-35658025	RMRP		Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97495254.	NR_003051.3(RMRP):n.-27_-6dup22 GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jul 10, 2020)	criteria provided, single submitter
Select item 97228155.	NR_003051.4(RMRP):n.165G>A GRCh37: Chr9:35657852 GRCh38: Chr9:35657855	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97223556.	NR_003051.4(RMRP):n.267T>C GRCh37: Chr9:35657750 GRCh38: Chr9:35657753	RMRP		not provided, Anauxetic dysplasia	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97205457.	NR_003051.4(RMRP):n.118_119delAG GRCh37: Chr9:35657897-35657898 GRCh38: Chr9:35657900-35657901	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 97199158.	NR_003051.3(RMRP):n.-9_1dup GRCh37: Chr9:35658014-35658015 GRCh38: Chr9:35658017-35658018	RMRP		Anauxetic dysplasia	Pathogenic (Oct 29, 2022)	criteria provided, single submitter
Select item 97189759.	NR_003051.4(RMRP):n.94A>C GRCh37: Chr9:35657923 GRCh38: Chr9:35657926	RMRP		Anauxetic dysplasia	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 97163160.	NR_003051.4(RMRP):n.122A>G GRCh37: Chr9:35657895 GRCh38: Chr9:35657898	RMRP		Anauxetic dysplasia	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 97072561.	NR_003051.4(RMRP):n.102A>G GRCh37: Chr9:35657915 GRCh38: Chr9:35657918	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 97036862.	NR_003051.4(RMRP):n.57C>G GRCh37: Chr9:35657960 GRCh38: Chr9:35657963	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 96997863.	NR_003051.4(RMRP):n.87C>G GRCh37: Chr9:35657930 GRCh38: Chr9:35657933	RMRP		Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96970364.	NR_003051.3(RMRP):n.-24A>C GRCh37: Chr9:35658039 GRCh38: Chr9:35658042	RMRP		Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96970265.	NR_003051.4(RMRP):n.101C>G GRCh37: Chr9:35657916 GRCh38: Chr9:35657919	RMRP		Anauxetic dysplasia	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 96946466.	NR_003051.3(RMRP):n.-4A>T GRCh37: Chr9:35658019 GRCh38: Chr9:35658022	RMRP		Anauxetic dysplasia	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 96828867.	NR_003051.4(RMRP):n.92A>C GRCh37: Chr9:35657925 GRCh38: Chr9:35657928	RMRP		Anauxetic dysplasia	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 96827568.	NR_003051.4(RMRP):n.174C>T GRCh37: Chr9:35657843 GRCh38: Chr9:35657846	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 96815969.	NR_003051.4(RMRP):n.84C>G GRCh37: Chr9:35657933 GRCh38: Chr9:35657936	RMRP		Anauxetic dysplasia	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 96782470.	NR_003051.4(RMRP):n.56C>T GRCh37: Chr9:35657961 GRCh38: Chr9:35657964	RMRP		Anauxetic dysplasia	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 96756071.	NR_003051.4(RMRP):n.203C>T GRCh37: Chr9:35657814 GRCh38: Chr9:35657817	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 96742872.	NR_003051.4(RMRP):n.17C>T GRCh37: Chr9:35658000 GRCh38: Chr9:35658003	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96732673.	NR_003051.4(RMRP):n.90G>A GRCh37: Chr9:35657927 GRCh38: Chr9:35657930	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 96722674.	NR_003051.3(RMRP):n.-6G>C GRCh37: Chr9:35658021 GRCh38: Chr9:35658024	RMRP		Anauxetic dysplasia, not specified	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96694675.	NR_003051.3(RMRP):n.-25_-21dup GRCh37: Chr9:35658035-35658036 GRCh38: Chr9:35658038-35658039	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 96690676.	NR_003051.3(RMRP):n.-10C>A GRCh37: Chr9:35658025 GRCh38: Chr9:35658028	RMRP		Anauxetic dysplasia	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 96685277.	NR_003051.4(RMRP):n.172G>A GRCh37: Chr9:35657845 GRCh38: Chr9:35657848	RMRP		Anauxetic dysplasia	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 96617778.	NR_003051.4(RMRP):n.194C>T GRCh37: Chr9:35657823 GRCh38: Chr9:35657826	RMRP		Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96536979.	NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC GRCh37: Chr9:35658010-35658011 GRCh38: Chr9:35658013-35658014	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Conflicting interpretations of pathogenicity (Sep 19, 2022)	criteria provided, conflicting interpretations
Select item 96502380.	NR_003051.3(RMRP):n.-19_-5dup GRCh37: Chr9:35658019-35658020 GRCh38: Chr9:35658022-35658023	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic/Likely pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 96466381.	NR_003051.4(RMRP):n.84dup GRCh37: Chr9:35657931-35657932 GRCh38: Chr9:35657934-35657935	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95683282.	NR_003051.4(RMRP):n.202C>T GRCh37: Chr9:35657815 GRCh38: Chr9:35657818	RMRP		Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type, Anauxetic dysplasia	Uncertain significance (Aug 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95658683.	NR_003051.4(RMRP):n.115_116insA GRCh37: Chr9:35657901-35657902 GRCh38: Chr9:35657904-35657905	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 95596184.	NR_003051.4(RMRP):n.127C>T GRCh37: Chr9:35657890 GRCh38: Chr9:35657893	RMRP		Anauxetic dysplasia	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 95031385.	NR_003051.4(RMRP):n.147C>A GRCh37: Chr9:35657870 GRCh38: Chr9:35657873	RMRP		Anauxetic dysplasia, Anauxetic dysplasia 1, Metaphyseal dysplasia without hypotrichosis, Metaphyseal chondrodysplasia, McKusick type	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94686986.	NR_003051.4(RMRP):n.266C>T GRCh37: Chr9:35657751 GRCh38: Chr9:35657754	RMRP		Anauxetic dysplasia	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 94567887.	NR_003051.4(RMRP):n.121_124delCATT GRCh37: Chr9:35657892-35657895 GRCh38: Chr9:35657895-35657898	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 94120388.	NR_003051.4(RMRP):n.148G>C GRCh37: Chr9:35657869 GRCh38: Chr9:35657872	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 93662689.	NR_003051.4(RMRP):n.230C>A GRCh37: Chr9:35657787 GRCh38: Chr9:35657790	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 22, 2019)	criteria provided, single submitter
Select item 93520790.	NR_003051.4(RMRP):n.204C>T GRCh37: Chr9:35657813 GRCh38: Chr9:35657816	RMRP		Anauxetic dysplasia	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 93356491.	NR_003051.4(RMRP):n.148G>T GRCh37: Chr9:35657869 GRCh38: Chr9:35657872	RMRP		Anauxetic dysplasia	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 92912292.	NR_003051.3(RMRP):n.-22_-11dup GRCh37: Chr9:35658025-35658026 GRCh38: Chr9:35658028-35658029	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 92912193.	NR_003051.3(RMRP):n.-20_1dup GRCh37: Chr9:35658014-35658015 GRCh38: Chr9:35658017-35658018	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic/Likely pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92912094.	NR_003051.3(RMRP):n.-15_-6dup GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic/Likely pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92888295.	NR_003051.4(RMRP):n.195G>A GRCh37: Chr9:35657822 GRCh38: Chr9:35657825	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal chondrodysplasia, McKusick type, Metaphyseal dysplasia without hypotrichosis, Anauxetic dysplasia 1	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 92888196.	NR_003051.4(RMRP):n.182G>A GRCh37: Chr9:35657835 GRCh38: Chr9:35657838	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91817097.	NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC GRCh37: Chr9:35658033-35658034 GRCh38: Chr9:35658036-35658037	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Apr 19, 2023)	criteria provided, single submitter
Select item 91816998.	NR_003051.3(RMRP):n.-17_-3dup15 GRCh37: Chr9:35658017-35658018 GRCh38: Chr9:35658020-35658021	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Pathogenic/Likely pathogenic (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91756099.	NR_003051.3(RMRP):n.-3_1dupCGTG GRCh37: Chr9:35658014-35658015 GRCh38: Chr9:35658017-35658018	RMRP		Anauxetic dysplasia, Metaphyseal chondrodysplasia, McKusick type	Conflicting interpretations of pathogenicity (Jul 14, 2021)	criteria provided, conflicting interpretations
Select item 917546100.	NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG GRCh37: Chr9:35658020-35658021 GRCh38: Chr9:35658023-35658024	RMRP		Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic (Jan 24, 2020)	criteria provided, single submitter

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