hermanns leucanthemifolia - ClinVar

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Items: 24

The following term was not found in ClinVar: leucanthemifolia.
Showing results for Hermannia leucanthemifolia. Your search for Hermannia leucanthemifolia retrieved no results.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 894420	NM_003466.4(PAX8):c.700G>A (p.Glu234Lys)	LOC126806316, PAX8 +1 more (E234K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632970	NR_003051.4(RMRP):n.213C>G	RMRP	Single nucleotide variant	Anauxetic dysplasia +2 more	GPathogenic/Likely pathogenic
Select item 633393	NR_003051.4(RMRP):n.197C>T	RMRP	Single nucleotide variant	not provided +2 more	GPathogenic
Select item 928881	NR_003051.4(RMRP):n.182G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GPathogenic
Select item 465202	NR_003051.4(RMRP):n.181dup	RMRP	Duplication	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3233939	NR_003051.4(RMRP):n.126C>T	RMRP	Single nucleotide variant (non-coding transcript variant)	not specified	GUncertain significance
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
Select item 1701570	NR_003051.4(RMRP):n.16G>T	RMRP	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1683417	NR_003051.4(RMRP):n.11T>C	RMRP	Single nucleotide variant	not specified	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 929121	NC_000009.12:g.35658018_35658038dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 917560	NR_003051.3(RMRP):n.-3_1dupCGTG	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GConflicting classifications of pathogenicity
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 550387	NR_003051.4(RMRP):n.-21_-2dup	RMRP	Duplication	Anauxetic dysplasia 1 +3 more	GPathogenic/Likely pathogenic
Select item 633395	NR_003051.3(RMRP):n.-21_-4dup	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 465205	NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +1 more	GPathogenic/Likely pathogenic
Select item 279883	NC_000009.12:g.35658031_35658037dup	RMRP	Duplication	Metaphyseal chondrodysplasia, McKusick type +2 more	GPathogenic/Likely pathogenic
Select item 6046	NM_004273.5(CHST3):c.603C>A (p.Tyr201Ter)	CHST3 (Y201*)	Single nucleotide variant (nonsense)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 6043	NM_004273.5(CHST3):c.664C>T (p.Arg222Trp)	CHST3 (R222W)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 6041	NM_004273.5(CHST3):c.776T>C (p.Leu259Pro)	CHST3 (L259P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 6044	NM_004273.5(CHST3):c.920T>C (p.Leu307Pro)	CHST3 (L307P)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 6045	NM_004273.5(CHST3):c.1086del (p.Arg363fs)	CHST3 (R363fs)	Deletion (frameshift variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic
Select item 6042	NM_004273.5(CHST3):c.1114G>A (p.Glu372Lys)	CHST3 (E372K)	Single nucleotide variant (missense variant)	Spondyloepiphyseal dysplasia with congenital joint dislocations	GPathogenic

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Items: 24