"Counsyl"[submitter] AND "RMRP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552239	NC_000009.12:g.35657748A>G	RMRP	Single nucleotide variant	Metaphyseal dysplasia without hypotrichosis +4 more	GUncertain significance
Select item 550176	NC_000009.12:g.35657749A>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +1 more	GUncertain significance
Select item 14209	NR_003051.4(RMRP):n.264G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic
Select item 552081	NR_003051.4(RMRP):n.263C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 552460	NR_003051.4(RMRP):n.256C>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 552376	NR_003051.4(RMRP):n.256C>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 552824	NR_003051.4(RMRP):n.250C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 557593	NR_003051.4(RMRP):n.245C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 553820	NR_003051.4(RMRP):n.237_242delCAACCA	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 553173	NR_003051.4(RMRP):n.244A>C	RMRP	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 487451	NR_003051.4(RMRP):n.244A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 558471	NR_003051.4(RMRP):n.235_238ACCA[1]	RMRP	Microsatellite	Anauxetic dysplasia +1 more	GUncertain significance
Select item 556949	NR_003051.4(RMRP):n.238A>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 557122	NR_003051.4(RMRP):n.215C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 557348	NR_003051.4(RMRP):n.196_204delTCAGCTCCC	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 556596	NR_003051.4(RMRP):n.184G>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 553518	NR_003051.4(RMRP):n.184G>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +1 more	GUncertain significance
Select item 553931	NR_003051.4(RMRP):n.178_179GC[3]	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 550880	NR_003051.4(RMRP):n.156G>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 554823	NR_003051.4(RMRP):n.154A>C	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 551539	NR_003051.4(RMRP):n.154A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 426728	NR_003051.4(RMRP):n.149C>T	RMRP	Single nucleotide variant	not provided	GLikely pathogenic
Select item 379208	NR_003051.3(RMRP):n.147G>A	RMRP	Single nucleotide variant	Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders +5 more	GPathogenic
Select item 383542	NC_000009.12:g.35657873G>A	RMRP	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 533762	NR_003051.4(RMRP):n.146C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 550118	NR_003051.4(RMRP):n.141dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 556947	NR_003051.4(RMRP):n.130C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 553186	NR_003051.4(RMRP):n.125_126dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GUncertain significance
Select item 550782	NR_003051.4(RMRP):n.122_124dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GUncertain significance
Select item 551930	NR_003051.4(RMRP):n.116_117insCC	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 556801	NR_003051.4(RMRP):n.99_101delGCC	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 555449	NR_003051.4(RMRP):n.101C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +2 more	GUncertain significance
Select item 552366	NR_003051.4(RMRP):n.73A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 552151	NR_003051.4(RMRP):n.71_72dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 554450	NC_000009.12:g.35657948_35657949del	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type +1 more	GUncertain significance
Select item 550496	NR_003051.4(RMRP):n.67delA	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 555902	NR_003051.4(RMRP):n.66T>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 189086	NR_003051.3(RMRP):n.64C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 418696	NR_003051.4(RMRP):n.52C>T	RMRP	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 552810	NR_003051.4(RMRP):n.25_43del19	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 551677	NR_003051.4(RMRP):n.45delT	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 550994	NR_003051.4(RMRP):n.42G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GLikely pathogenic
Select item 550286	NR_003051.4(RMRP):n.37_38delCT	RMRP	Deletion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 533768	NR_003051.4(RMRP):n.37C>A	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +1 more	GConflicting classifications of pathogenicity
Select item 557388	NR_003051.4(RMRP):n.13_14insT	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 557296	NR_003051.3(RMRP):n.-2_6dup8	RMRP	Duplication	Anauxetic dysplasia +1 more	GUncertain significance
Select item 556297	NR_003051.4(RMRP):n.2_6dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 555189	NR_003051.3(RMRP):n.-5_6dup11	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 552477	NR_003051.4(RMRP):n.6C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 550637	NR_003051.3(RMRP):n.3_4ins10	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 556720	NR_003051.3(RMRP):n.-7_2dup9	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 552543	NR_003051.3(RMRP):n.2_3ins15	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type +1 more	GConflicting classifications of pathogenicity
Select item 558181	NR_003051.3(RMRP):n.1_2ins13	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 552568	NR_003051.3(RMRP):n.-19_1dup20	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 487440	NR_003051.3(RMRP):n.-7_1dup8	RMRP	Duplication (non-coding transcript variant)	Metaphyseal dysplasia without hypotrichosis +4 more	GPathogenic/Likely pathogenic
Select item 556339	NR_003051.3(RMRP):n.-1_1ins22	RMRP	Insertion	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 555992	NR_003051.3(RMRP):n.-1_1ins21	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 552761	NC_000009.12:g.35658020_35658037dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 552607	NR_003051.3(RMRP):n.-1_1ins16	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 555121	NR_003051.4(RMRP):n.-20_-1dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 554533	NC_000009.12:g.35658020_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 551341	NR_003051.3(RMRP):n.-18_-2dup17	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 551168	NR_003051.3(RMRP):n.-13_-2dup	RMRP	Duplication	Metaphyseal dysplasia without hypotrichosis +3 more	GPathogenic/Likely pathogenic
Select item 550416	NR_003051.3(RMRP):n.-11_-2dup10	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 557000	NR_003051.3(RMRP):n.-20_-3dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 555959	NR_003051.3(RMRP):n.-3_-2ins20	RMRP	Insertion	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 554948	NR_003051.3(RMRP):n.-24_-3dup22	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 551723	NR_003051.3(RMRP):n.-25_-3dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 550387	NR_003051.4(RMRP):n.-21_-2dup	RMRP	Duplication	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 556686	NR_003051.3(RMRP):n.-13_-4dup10	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 556583	NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 555417	NR_003051.3(RMRP):n.-22_-4dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 551626	NR_003051.3(RMRP):n.-16_-4dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 558582	NR_003051.3(RMRP):n.-23_-5dup19	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 555034	NR_003051.3(RMRP):n.-10_-5dup6	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 516512	NR_003051.3(RMRP):n.-4A>G	RMRP	Single nucleotide variant	not specified +2 more	GConflicting classifications of pathogenicity
Select item 557132	NR_003051.3(RMRP):n.-21_-6dup16	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 556306	NC_000009.12:g.35658024_35658040dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GLikely pathogenic
Select item 551924	NC_000009.12:g.35658024_35658041dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 558025	NR_003051.3(RMRP):n.-7_-6ins16	RMRP	Insertion	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 555980	NR_003051.3(RMRP):n.-13_-7dup7	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 554699	NR_003051.3(RMRP):n.-23_-7dup17	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 553115	NR_003051.3(RMRP):n.-18_-7dup12	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 556294	NR_003051.3(RMRP):n.-8_-7ins15	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 554401	NR_003051.3(RMRP):n.-18_-8dup11	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 554037	NR_003051.4(RMRP):n.-7_-6insGGGACTACTCTGTGAAGCTG	RMRP	Insertion	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 553151	NR_003051.3(RMRP):n.-7delA	RMRP	Deletion	Anauxetic dysplasia +1 more	GUncertain significance
Select item 551985	NR_003051.3(RMRP):n.-25_-8dup18	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 14219	NR_003051.3(RMRP):n.-8_-7ins17	RMRP	Insertion	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 555514	NR_003051.3(RMRP):n.-18_-9dup10	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 557941	NR_003051.3(RMRP):n.-20_-10dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GLikely pathogenic
Select item 555707	NC_000009.12:g.35658028_35658041dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GLikely pathogenic
Select item 552639	NR_003051.3(RMRP):n.-26_-10dup	RMRP	Duplication	Metaphyseal dysplasia without hypotrichosis +3 more	GPathogenic/Likely pathogenic
Select item 14211	NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +4 more	GPathogenic/Likely pathogenic
Select item 556410	NR_003051.3(RMRP):n.-19_-12dup8	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 556166	NR_003051.3(RMRP):n.-21_-12dup10	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 551654	NR_003051.3(RMRP):n.-24_-12dupACTACTCTGTGAA	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GPathogenic/Likely pathogenic
Select item 551137	NC_000009.12:g.35658032_35658045dup	RMRP	Duplication	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557339	NR_003051.3(RMRP):n.-23_-13dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 552382	NR_003051.3(RMRP):n.-14_-13dupGA	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance

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