Related gene-specific medical variations for Gene (Select 55112) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245817	NC_000007.13:g.(?_158677235)_(158679786_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 3245816	NC_000007.13:g.(?_158649427)_(158738470_?)del	DYNC2I1	Deletion	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 3006738	NM_018051.5(DYNC2I1):c.15+8C>T	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2735667	NM_018051.5(DYNC2I1):c.15+12G>C	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2690779	NM_018051.5(DYNC2I1):c.898C>T (p.Arg300Ter)	DYNC2I1 (R254* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely pathogenic
Select item 2591025	NM_018051.5(DYNC2I1):c.11G>T (p.Gly4Val)	DYNC2I1, LOC129999765 (G4V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1680634	NM_018051.5(DYNC2I1):c.15+17G>A	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680633	NM_018051.5(DYNC2I1):c.15+12G>T	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680632	NM_018051.5(DYNC2I1):c.15+4G>A	DYNC2I1, LOC129999765	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1271509	NM_018051.5(DYNC2I1):c.-93C>T	DYNC2I1, LOC129999765	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1263568	NM_018051.5(DYNC2I1):c.-54A>G	DYNC2I1, LOC129999765	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 917970	NM_018051.5(DYNC2I1):c.899G>T (p.Arg300Leu)	DYNC2I1 (R254L +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely pathogenic
Select item 810237	NM_018051.5(DYNC2I1):c.1877G>A (p.Ser626Asn)	DYNC2I1 (S139N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591649	NM_018051.5(DYNC2I1):c.990+1G>A	DYNC2I1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591545	NM_018051.5(DYNC2I1):c.935+2T>C	DYNC2I1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 591041	NM_018051.5(DYNC2I1):c.2108G>T (p.Cys703Phe)	DYNC2I1 (C703F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374627	NM_018051.5(DYNC2I1):c.2155G>T (p.Gly719Cys)	DYNC2I1 (G719C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance