C3809691[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 365

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 1680635	NM_018051.5(DYNC2I1):c.16-13C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680636	NM_018051.5(DYNC2I1):c.16-6A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2103993	NM_018051.5(DYNC2I1):c.35C>T (p.Thr12Ile)	DYNC2I1 (T12I)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680637	NM_018051.5(DYNC2I1):c.49G>A (p.Asp17Asn)	DYNC2I1 (D17N)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 572127	NM_018051.5(DYNC2I1):c.69G>A (p.Trp23Ter)	DYNC2I1 (W23*)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 474632	NM_018051.5(DYNC2I1):c.69+7A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2079442	NM_018051.5(DYNC2I1):c.69+15G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2917017	NM_018051.5(DYNC2I1):c.70-20C>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680638	NM_018051.5(DYNC2I1):c.104A>G (p.Lys35Arg)	DYNC2I1 (K35R)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 541525	NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=)	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 664414	NM_018051.5(DYNC2I1):c.116A>G (p.Lys39Arg)	DYNC2I1 (K39R)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 707551	NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe)	DYNC2I1 (S45F)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2091431	NM_018051.5(DYNC2I1):c.162G>C (p.Glu54Asp)	DYNC2I1 (E54D +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 971782	NM_018051.5(DYNC2I1):c.176A>G (p.Asp59Gly)	DYNC2I1 (D59G +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2920111	NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680639	NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 724968	NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2730063	NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2062886	NM_018051.5(DYNC2I1):c.295C>T (p.Arg99Trp)	DYNC2I1 (R99W +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2131238	NM_018051.5(DYNC2I1):c.296G>C (p.Arg99Pro)	DYNC2I1 (R53P +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2978617	NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2144165	NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1166680	NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del)	DYNC2I1 (K105del +1 more)	Deletion (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GBenign
Select item 772310	NM_018051.5(DYNC2I1):c.324T>C (p.His108=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2032390	NM_018051.5(DYNC2I1):c.351A>G (p.Arg117=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 766813	NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=)	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2025330	NM_018051.5(DYNC2I1):c.378_381del (p.Asp126fs)	DYNC2I1 (D80fs +1 more)	Deletion (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1039216	NM_018051.5(DYNC2I1):c.389G>A (p.Arg130Gln)	DYNC2I1 (R130Q +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680640	NM_018051.5(DYNC2I1):c.407A>C (p.Gln136Pro)	DYNC2I1 (Q136P +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2889251	NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)	DYNC2I1	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680641	NM_018051.5(DYNC2I1):c.418C>G (p.His140Asp)	DYNC2I1 (H140D +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1015573	NM_018051.5(DYNC2I1):c.436C>A (p.Gln146Lys)	DYNC2I1 (Q100K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 541522	NM_018051.5(DYNC2I1):c.445C>T (p.Arg149Cys)	DYNC2I1 (R149C +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 999255	NM_018051.5(DYNC2I1):c.451C>T (p.Arg151Trp)	DYNC2I1 (R105W +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +2 more	GUncertain significance
Select item 2910330	NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)	DYNC2I1 (L107F +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2161801	NM_018051.5(DYNC2I1):c.470C>T (p.Ala157Val)	DYNC2I1 (A157V +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1285226	NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	DYNC2I1-related condition +2 more	GLikely benign
Select item 707494	NM_018051.5(DYNC2I1):c.471G>C (p.Ala157=)	DYNC2I1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2188036	NM_018051.5(DYNC2I1):c.485G>T (p.Arg162Leu)	DYNC2I1 (R162L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 516235	NM_018051.5(DYNC2I1):c.490G>A (p.Val164Ile)	DYNC2I1 (V164I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1680642	NM_018051.5(DYNC2I1):c.490+8C>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680644	NM_018051.5(DYNC2I1):c.490+11G>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680643	NM_018051.5(DYNC2I1):c.490+11G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2724678	NM_018051.5(DYNC2I1):c.491-17T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2716377	NM_018051.5(DYNC2I1):c.491-10C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2077300	NM_018051.5(DYNC2I1):c.500T>A (p.Val167Glu)	DYNC2I1 (V167E +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 707133	NM_018051.5(DYNC2I1):c.519T>C (p.Asp173=)	DYNC2I1 (M1T)	Single nucleotide variant (synonymous variant +3 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GBenign
Select item 2000055	NM_018051.5(DYNC2I1):c.527_528del (p.Asp175_Ser176insTer)	DYNC2I1 (L4fs)	Microsatellite (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2186983	NM_018051.5(DYNC2I1):c.562C>T (p.Arg188Ter)	DYNC2I1 (R142* +1 more)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 1000698	NM_018051.5(DYNC2I1):c.573+6C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2724732	NM_018051.5(DYNC2I1):c.573+14G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2417735	NM_018051.5(DYNC2I1):c.574-11G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 848056	NM_018051.5(DYNC2I1):c.574-10T>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2067360	NM_018051.5(DYNC2I1):c.574-9G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680645	NM_018051.5(DYNC2I1):c.582C>T (p.Tyr194=)	DYNC2I1 (T22M)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2851091	NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)	DYNC2I1 (T28I)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 474631	NM_018051.5(DYNC2I1):c.604C>G (p.Leu202Val)	DYNC2I1 (L202V +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GBenign
Select item 2905318	NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)	DYNC2I1 (S30*)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680646	NM_018051.5(DYNC2I1):c.609G>A (p.Lys203=)	DYNC2I1 (S31N)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2043137	NM_018051.5(DYNC2I1):c.625G>C (p.Glu209Gln)	DYNC2I1 (E163Q +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2720610	NM_018051.5(DYNC2I1):c.629_630delinsGC (p.Glu210Gly)	DYNC2I1 (E164G +2 more)	Indel (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680647	NM_018051.5(DYNC2I1):c.633C>T (p.Gly211=)	DYNC2I1 (A39V)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 957105	NM_018051.5(DYNC2I1):c.667C>G (p.Arg223Gly)	DYNC2I1 (R177G +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1955067	NM_018051.5(DYNC2I1):c.672C>T (p.Asp224=)	DYNC2I1 (T52I)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 516204	NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys)	DYNC2I1 (N225K +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GBenign
Select item 1680648	NM_018051.5(DYNC2I1):c.678A>G (p.Lys226=)	DYNC2I1 (N54S)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680649	NM_018051.5(DYNC2I1):c.682C>T (p.Arg228Ter)	DYNC2I1 (R182* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2075071	NM_018051.5(DYNC2I1):c.691A>C (p.Ser231Arg)	DYNC2I1 (K58N +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2089701	NM_018051.5(DYNC2I1):c.701G>T (p.Arg234Met)	DYNC2I1 (G62W +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2915083	NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)	DYNC2I1 (K63R)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2162517	NM_018051.5(DYNC2I1):c.712_715del (p.Glu238fs)	DYNC2I1 (E192fs +2 more)	Microsatellite (frameshift variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 707055	NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp)	DYNC2I1 (E192D +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GLikely benign
Select item 1007556	NM_018051.5(DYNC2I1):c.731A>G (p.Lys244Arg)	DYNC2I1 (K198R +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 737917	NM_018051.5(DYNC2I1):c.732A>G (p.Lys244=)	DYNC2I1 (K72R)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680650	NM_018051.5(DYNC2I1):c.751A>C (p.Lys251Gln)	DYNC2I1 (K251Q +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2106235	NM_018051.5(DYNC2I1):c.762A>C (p.Glu254Asp)	DYNC2I1 (K82T +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2873339	NM_018051.5(DYNC2I1):c.778C>T (p.Arg260Ter)	DYNC2I1 (R214* +1 more)	Single nucleotide variant (nonsense +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GPathogenic
Select item 2197204	NM_018051.5(DYNC2I1):c.785AAG[1] (p.Glu263del)	DYNC2I1 (K91del +2 more)	Microsatellite (inframe_deletion +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 541523	NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg)	DYNC2I1 (K262R +2 more)	Single nucleotide variant (missense variant +1 more)	DYNC2I1-related condition +1 more	GLikely benign
Select item 516219	NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg)	DYNC2I1 (Q273R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 1680651	NM_018051.5(DYNC2I1):c.822C>A (p.Ser274Arg)	DYNC2I1 (A102E +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 1680652	NM_018051.5(DYNC2I1):c.825C>T (p.Asn275=)	DYNC2I1 (T103M)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680653	NM_018051.5(DYNC2I1):c.829G>T (p.Asp277Tyr)	DYNC2I1 (D231Y +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 2140990	NM_018051.5(DYNC2I1):c.845C>T (p.Ser282Leu)	DYNC2I1 (S282L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 766910	NM_018051.5(DYNC2I1):c.846G>T (p.Ser282=)	DYNC2I1 (R110L)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2705608	NM_018051.5(DYNC2I1):c.868A>G (p.Arg290Gly)	DYNC2I1 (R290G +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 707022	NM_018051.5(DYNC2I1):c.876C>T (p.Ser292=)	DYNC2I1 (P120L)	Single nucleotide variant (synonymous variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1983766	NM_018051.5(DYNC2I1):c.879+11_879+19del	DYNC2I1	Deletion (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2178229	NM_018051.5(DYNC2I1):c.879+10C>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680654	NM_018051.5(DYNC2I1):c.879+14T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2739888	NM_018051.5(DYNC2I1):c.879+17T>C	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2162611	NM_018051.5(DYNC2I1):c.879+19C>T	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2768869	NM_018051.5(DYNC2I1):c.879+20G>A	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 1680655	NM_018051.5(DYNC2I1):c.880-17A>G	DYNC2I1	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GLikely benign
Select item 2187692	NM_018051.5(DYNC2I1):c.884G>T (p.Gly295Val)	DYNC2I1 (G249V +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance

<< First< Prev

Page of 4