ClinVar for MedGen (Select 320444) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802207	NR_003051.4(RMRP):n.223G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1706480	RMRP, 1-BP DEL/21-BP INS, PROMOTER	RMRP	Indel	Metaphyseal dysplasia without hypotrichosis	GPathogenic
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 1484558	NC_000009.12:g.35658020C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1422200	NC_000009.12:g.35658036G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
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 1054384	NC_000009.12:g.35658027A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 1020567	NR_003051.4(RMRP):n.134C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	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 974953	NR_003051.3(RMRP):n.-20_-7dup14	RMRP	Duplication	Anauxetic dysplasia +3 more	GLikely pathogenic
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 966177	NR_003051.4(RMRP):n.194C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	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 950313	NR_003051.4(RMRP):n.147C>A	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 928882	NR_003051.4(RMRP):n.195G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 856528	NR_003051.4(RMRP):n.242A>C	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	GUncertain significance
Select item 856051	NC_000009.12:g.35658044T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 850735	NR_003051.4(RMRP):n.115C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 703523	NC_000009.12:g.35658042T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GBenign/Likely benign
Select item 661473	NC_000009.12:g.35658049T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 660293	NC_000009.12:g.35658038G>A	RMRP	Single nucleotide variant	not specified +4 more	GUncertain significance
Select item 647397	NR_003051.4(RMRP):n.-21_-13dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +3 more	GPathogenic/Likely pathogenic
Select item 644504	NC_000009.12:g.35658039T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 633393	NR_003051.4(RMRP):n.197C>T	RMRP	Single nucleotide variant	not provided +2 more	GPathogenic
Select item 632969	NR_003051.3(RMRP):n.-24_-4dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +3 more	GPathogenic/Likely pathogenic
Select item 582047	NR_003051.4(RMRP):n.36A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GUncertain significance
Select item 580378	NR_003051.4(RMRP):n.220A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 577282	NR_003051.4(RMRP):n.240C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 565846	NR_003051.4(RMRP):n.97G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 557941	NR_003051.3(RMRP):n.-20_-10dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GLikely pathogenic
Select item 556583	NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 553186	NR_003051.4(RMRP):n.125_126dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GUncertain significance
Select item 552639	NR_003051.3(RMRP):n.-26_-10dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +3 more	GPathogenic/Likely pathogenic
Select item 552477	NR_003051.4(RMRP):n.6C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 552239	NC_000009.12:g.35657748A>G	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	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 551168	NR_003051.3(RMRP):n.-13_-2dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 550929	NR_003051.3(RMRP):n.-21_-19dup	RMRP	Microsatellite	Anauxetic dysplasia +3 more	GUncertain significance
Select item 550880	NR_003051.4(RMRP):n.156G>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type	GUncertain significance
Select item 550387	NR_003051.4(RMRP):n.-21_-2dup	RMRP	Duplication	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 533765	NR_003051.4(RMRP):n.2G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GUncertain significance
Select item 533761	NR_003051.4(RMRP):n.37C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 487451	NR_003051.4(RMRP):n.244A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 487440	NR_003051.3(RMRP):n.-7_1dup8	RMRP	Duplication (non-coding transcript variant)	Anauxetic dysplasia 1 +4 more	GPathogenic/Likely pathogenic
Select item 465208	NR_003051.4(RMRP):n.256_265delCTCAGCGCGG	RMRP	Deletion	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 465201	NR_003051.4(RMRP):n.129G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 426730	NR_003051.4(RMRP):n.125C>A	RMRP	Single nucleotide variant	not specified +5 more	GUncertain significance
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 189086	NR_003051.3(RMRP):n.64C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +4 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 14218	NC_000009.12:g.35658021GTCCTCAGCTTC[3]	RMRP	Microsatellite	Metaphyseal dysplasia without hypotrichosis	GPathogenic
Select item 14214	NR_003051.4(RMRP):n.-18_-2dup	RMRP	Duplication	not provided +4 more	GPathogenic
Select item 14211	NR_003051.3(RMRP):n.-24_-10dupACTACTCTGTGAAGC	RMRP	Duplication	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 14210	NR_003051.3(RMRP):n.-22_-13dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 14209	NR_003051.4(RMRP):n.264G>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic
Select item 14208	NR_003051.4(RMRP):n.72A>G	RMRP, CCDC107	Single nucleotide variant (non-coding transcript variant)	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic

ClinVar

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Links from MedGen

Items: 58