ClinVar for MedGen (Select 67398) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069137	NR_003051.4(RMRP):n.246G>C	RMRP	Single nucleotide variant (non-coding transcript variant)	Metaphyseal chondrodysplasia, McKusick type	GPathogenic
Select item 3069136	NR_003051.4(RMRP):n.-18_-17insTCTGTGAAGCTGAGGAC	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GPathogenic
Select item 2503874	NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 2500722	NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GPathogenic
Select item 2175595	NR_003051.4(RMRP):n.120A>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +2 more	GUncertain significance
Select item 2098536	NR_003051.4(RMRP):n.-5_+5dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic
Select item 2018263	NC_000009.12:g.35658032_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 1802207	NR_003051.4(RMRP):n.223G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1723424	NC_000009.12:g.35658024_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1698511	NC_000009.12:g.35658026_35658037dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1696063	NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]	RMRP	Microsatellite	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1683459	NR_003051.4(RMRP):n.77C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 1683418	NC_000009.12:g.35658026_35658032dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1677237	NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1675120	NC_000009.12:g.35657928T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1515547	NR_003051.3(RMRP):n.-12dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1489133	NC_000009.12:g.35658041_35658042insGTGAGTAG	RMRP	Insertion	Anauxetic dysplasia +1 more	GLikely pathogenic
Select item 1484558	NC_000009.12:g.35658020C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1457701	NC_000009.12:g.35658018_35658041dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1454754	NR_003051.4(RMRP):n.-24_-3dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic
Select item 1454053	NC_000009.12:g.35658018_35658040dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1426407	NR_003051.4(RMRP):n.94dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic
Select item 1422200	NC_000009.12:g.35658036G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 1385427	NC_000009.12:g.35658020_35658043dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 1301386	NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA	RMRP	Indel	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1299143	NC_000009.12:g.35658022_35658032dup	RMRP	Duplication	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1169997	NC_000009.12:g.35658023C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GBenign
Select item 1067429	NR_003051.4(RMRP):n.129G>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +3 more	GPathogenic/Likely pathogenic
Select item 1067265	NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 1067141	NC_000009.12:g.35658019_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 1066998	NR_003051.3(RMRP):n.-20_-12dup	RMRP	Duplication	Anauxetic dysplasia	GPathogenic
Select item 1066553	NR_003051.3(RMRP):n.-20_-8dup	RMRP	Duplication	Anauxetic dysplasia	GLikely pathogenic
Select item 1065953	NC_000009.12:g.35658023_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GPathogenic/Likely pathogenic
Select item 1065142	NC_000009.12:g.35658025_35658039dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GLikely pathogenic
Select item 1060000	NR_003051.4(RMRP):n.87C>T	RMRP	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 1054384	NC_000009.12:g.35658027A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1051497	NR_003051.4(RMRP):n.167T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1051016	NR_003051.4(RMRP):n.2G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1045924	NR_003051.4(RMRP):n.162C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1045266	NC_000009.12:g.35658041G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1040616	NR_003051.4(RMRP):n.7G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1039823	NR_003051.4(RMRP):n.262G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 1036374	NR_003051.4(RMRP):n.152A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1022771	NR_003051.4(RMRP):n.235A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1020871	NC_000009.12:g.35658025T>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1020567	NR_003051.4(RMRP):n.134C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1019996	NC_000009.12:g.35658026C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1014650	NR_003051.4(RMRP):n.51C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1014461	NR_003051.4(RMRP):n.206C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1008198	NR_003051.4(RMRP):n.187C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1008110	NR_003051.4(RMRP):n.18C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 1006089	NR_003051.4(RMRP):n.158G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 998955	NR_003051.4(RMRP):n.243C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 991665	NC_000009.12:g.35658034C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 991664	NR_003051.4(RMRP):n.60T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 991663	NR_003051.4(RMRP):n.117T>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 991662	NR_003051.4(RMRP):n.137C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +3 more	GUncertain significance
Select item 991661	NR_003051.4(RMRP):n.229C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 984521	NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 984455	NR_003051.3(RMRP):n.-17_-5dup13	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 974997	NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 974963	NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 974953	NR_003051.3(RMRP):n.-20_-7dup14	RMRP	Duplication	Anauxetic dysplasia +3 more	GLikely pathogenic
Select item 974952	NR_003051.3(RMRP):n.-27_-6dup22	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 972281	NR_003051.4(RMRP):n.165G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 972235	NR_003051.4(RMRP):n.267T>C	RMRP	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 972054	NR_003051.4(RMRP):n.118_119delAG	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 971991	NR_003051.3(RMRP):n.-9_1dup	RMRP	Duplication	Anauxetic dysplasia	GPathogenic
Select item 971897	NR_003051.4(RMRP):n.94A>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 971631	NR_003051.4(RMRP):n.122A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 970725	NR_003051.4(RMRP):n.102A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 970368	NR_003051.4(RMRP):n.57C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 969978	NR_003051.4(RMRP):n.87C>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +3 more	GUncertain significance
Select item 969703	NC_000009.12:g.35658042T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 969702	NR_003051.4(RMRP):n.101C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 969464	NC_000009.12:g.35658022T>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 968288	NR_003051.4(RMRP):n.92A>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 968275	NR_003051.4(RMRP):n.174C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 968159	NR_003051.4(RMRP):n.84C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 967824	NR_003051.4(RMRP):n.56C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 967560	NR_003051.4(RMRP):n.203C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 967428	NR_003051.4(RMRP):n.17C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 967326	NR_003051.4(RMRP):n.90G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 967226	NC_000009.12:g.35658024C>G	RMRP	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 966946	NR_003051.3(RMRP):n.-25_-21dup	RMRP	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 966906	NC_000009.12:g.35658028G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 966852	NR_003051.4(RMRP):n.172G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 966177	NR_003051.4(RMRP):n.194C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 965369	NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GConflicting classifications of pathogenicity
Select item 965023	NC_000009.12:g.35658023_35658037dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 964663	NR_003051.4(RMRP):n.84dup	RMRP	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 956832	NR_003051.4(RMRP):n.202C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 956586	NR_003051.4(RMRP):n.115_116insA	RMRP	Insertion	Anauxetic dysplasia	GUncertain significance
Select item 955961	NR_003051.4(RMRP):n.127C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 950313	NR_003051.4(RMRP):n.147C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 946869	NR_003051.4(RMRP):n.266C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 945678	NR_003051.4(RMRP):n.121_124delCATT	RMRP	Deletion	Anauxetic dysplasia	GUncertain significance
Select item 941203	NR_003051.4(RMRP):n.148G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 936626	NR_003051.4(RMRP):n.230C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance
Select item 935207	NR_003051.4(RMRP):n.204C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia	GUncertain significance

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