"DYNC2I2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3057883	NM_052844.4(DYNC2I2):c.*8C>T	DYNC2I2	Single nucleotide variant (3 prime UTR variant)	DYNC2I2-related disorder	GLikely benign
Select item 1681169	NM_052844.4(DYNC2I2):c.1500G>A (p.Ala500=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 1681173	NM_052844.4(DYNC2I2):c.1431G>A (p.Lys477=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 707212	NM_052844.4(DYNC2I2):c.1310A>G (p.Tyr437Cys)	DYNC2I2 (Y437C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2037295	NM_052844.4(DYNC2I2):c.1251C>T (p.Val417=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 3057856	NM_052844.4(DYNC2I2):c.1230C>T (p.Ser410=)	DYNC2I2	Single nucleotide variant (synonymous variant)	DYNC2I2-related disorder	GLikely benign
Select item 474844	NM_052844.4(DYNC2I2):c.1066G>A (p.Gly356Ser)	DYNC2I2, LOC126860772 (G356S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +2 more	GBenign/Likely benign
Select item 97038	NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met)	DYNC2I2, LOC126860772 (T354M)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder	GLikely pathogenic
Select item 2630985	NM_052844.4(DYNC2I2):c.877G>T (p.Gly293Trp)	DYNC2I2, LOC126860772 (G293W)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder	GUncertain significance
Select item 720560	NM_052844.4(DYNC2I2):c.699C>T (p.Val233=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 707374	NM_052844.4(DYNC2I2):c.633G>A (p.Ser211=)	DYNC2I2	Single nucleotide variant (synonymous variant)	DYNC2I2-related disorder +1 more	GLikely benign
Select item 772498	NM_052844.4(DYNC2I2):c.616C>T (p.Arg206Cys)	DYNC2I2 (R206C)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder +1 more	GBenign/Likely benign
Select item 1681240	NM_052844.4(DYNC2I2):c.498C>T (p.Ser166=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 2179724	NM_052844.4(DYNC2I2):c.330C>T (p.Ala110=)	DYNC2I2	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GLikely benign
Select item 474848	NM_052844.4(DYNC2I2):c.187-3C>A	DYNC2I2	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +2 more	GBenign
Select item 728312	NM_052844.4(DYNC2I2):c.187-10C>T	DYNC2I2	Single nucleotide variant (intron variant)	DYNC2I2-related disorder +1 more	GLikely benign
Select item 2193761	NM_052844.4(DYNC2I2):c.182A>G (p.Glu61Gly)	DYNC2I2 (E61G)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GUncertain significance
Select item 734463	NM_052844.4(DYNC2I2):c.107G>T (p.Gly36Val)	DYNC2I2 (G36V)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder +1 more	GLikely benign
Select item 746722	NM_052844.4(DYNC2I2):c.106G>T (p.Gly36Trp)	DYNC2I2 (G36W)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 931223	NM_052844.4(DYNC2I2):c.65C>T (p.Ala22Val)	DYNC2I2 (A22V)	Single nucleotide variant (missense variant)	DYNC2I2-related disorder +3 more	GBenign/Likely benign

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Items: 20