C0220748[trait identifier] AND "Women's Health and Genetics/Laboratory - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 552239	NR_003051.3(RMRP):n.271T>C	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	GUncertain significance
Select item 1039823	NR_003051.4(RMRP):n.262G>A	RMRP	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 487451	NR_003051.4(RMRP):n.244A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 856528	NR_003051.4(RMRP):n.242A>C	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +4 more	GUncertain significance
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 580378	NR_003051.4(RMRP):n.220A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 653279	NR_003051.4(RMRP):n.216A>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 632970	NR_003051.4(RMRP):n.213C>G	RMRP	Single nucleotide variant	Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders +2 more	GPathogenic/Likely pathogenic
Select item 633393	NR_003051.4(RMRP):n.197C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +2 more	GPathogenic
Select item 928882	NR_003051.4(RMRP):n.195G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GPathogenic/Likely 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 928881	NR_003051.4(RMRP):n.182G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GPathogenic
Select item 379208	NR_003051.3(RMRP):n.147G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +5 more	GPathogenic
Select item 465201	NR_003051.4(RMRP):n.129G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +6 more	GConflicting classifications of pathogenicity
Select item 1060000	NR_003051.4(RMRP):n.87C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 14208	NR_003051.3(RMRP):n.71A>G	CCDC107, RMRP	Single nucleotide variant (non-coding transcript variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 189086	NR_003051.3(RMRP):n.64C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic
Select item 533760	NR_003051.4(RMRP):n.63G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 663329	NR_003051.4(RMRP):n.59_60insA	RMRP	Insertion	not specified +2 more	GUncertain significance
Select item 702091	NR_003051.4(RMRP):n.54dup	RMRP	Duplication	Anauxetic dysplasia +2 more	GBenign
Select item 418696	NR_003051.4(RMRP):n.52C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 550994	NR_003051.4(RMRP):n.42G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GLikely pathogenic
Select item 552477	NR_003051.4(RMRP):n.6C>T	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	GPathogenic/Likely pathogenic
Select item 929121	NR_003051.3(RMRP):n.-20_1dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 917560	NR_003051.3(RMRP):n.-3_1dupCGTG	RMRP	Duplication	Anauxetic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 633396	NR_003051.3(RMRP):n.-13_1dup14	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic
Select item 487440	NR_003051.3(RMRP):n.-7_1dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 632968	NR_003051.3(RMRP):n.-14_-2dup13	RMRP	Duplication	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 1696063	NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 918169	NR_003051.3(RMRP):n.-17_-3dup15	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 550387	NR_003051.4(RMRP):n.-21_-2dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 14214	NR_003051.4(RMRP):n.-18_-2dup	RMRP	Duplication	Anauxetic dysplasia +4 more	GPathogenic
Select item 1677237	NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1299143	NC_000009.12:g.35658022_35658032dup	RMRP	Duplication	Anauxetic dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 697786	NR_003051.3(RMRP):n.-3C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +2 more	GLikely benign
Select item 633395	NR_003051.3(RMRP):n.-21_-4dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 632969	NR_003051.3(RMRP):n.-24_-4dup	RMRP	Duplication	Anauxetic dysplasia 1 +3 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	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 1065953	NC_000009.12:g.35658023_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GPathogenic/Likely pathogenic
Select item 984455	NR_003051.3(RMRP):n.-17_-5dup13	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 965023	NR_003051.3(RMRP):n.-19_-5dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 2503874	NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1723424	NC_000009.12:g.35658024_35658038dup	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 974952	NR_003051.3(RMRP):n.-27_-6dup22	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 929120	NR_003051.3(RMRP):n.-15_-6dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 917546	NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 852657	NR_003051.3(RMRP):n.-25_-6dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 633394	NR_003051.3(RMRP):n.-13_-6dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1301386	NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA	RMRP	Indel	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1065142	NC_000009.12:g.35658025_35658039dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	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 967226	NR_003051.3(RMRP):n.-6G>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance
Select item 1698511	NC_000009.12:g.35658026_35658037dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 1683418	NC_000009.12:g.35658026_35658032dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 664682	NR_003051.3(RMRP):n.-15_-8dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 465205	NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 1067265	NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC	RMRP	Microsatellite	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 984521	NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC	RMRP	Microsatellite	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 557941	NR_003051.3(RMRP):n.-20_-10dup	RMRP	Duplication	Anauxetic dysplasia +3 more	GLikely pathogenic
Select item 533771	NR_003051.3(RMRP):n.-9T>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +2 more	GLikely benign
Select item 929122	NR_003051.3(RMRP):n.-22_-11dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 551654	NR_003051.3(RMRP):n.-24_-12dup	RMRP	Duplication	Anauxetic dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 551691	NR_003051.3(RMRP):n.-20_-13dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 550921	NR_003051.3(RMRP):n.-12A>C	RMRP	Single nucleotide variant	Metaphyseal chondrodysplasia, McKusick type +4 more	GConflicting classifications of pathogenicity
Select item 647397	NR_003051.4(RMRP):n.-21_-13dup	RMRP	Duplication	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 632971	NR_003051.3(RMRP):n.-22_-15dupTACTCTGT	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 553917	NR_003051.3(RMRP):n.-24_-18dup	RMRP	Duplication	Anauxetic dysplasia +1 more	GPathogenic/Likely pathogenic
Select item 918170	NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC	RMRP	Insertion	Metaphyseal chondrodysplasia, McKusick type	GLikely pathogenic
Select item 660293	NR_003051.3(RMRP):n.-20C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia 1 +4 more	GUncertain significance
Select item 533769	NR_003051.3(RMRP):n.-20C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +3 more	GBenign
Select item 836322	NR_003051.3(RMRP):n.-22T>C	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GUncertain significance

ClinVar

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Items: 76