C0265275[trait identifier] AND "Dan Cohn Lab, University Of California - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424332	NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)	LBR (R512Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446676	NM_002296.4(LBR):c.1174G>A (p.Gly392Arg)	LBR (G392R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 446645	NM_020779.4(WDR35):c.2489A>T (p.Asp830Val)	WDR35 (D841V +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 65619	NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	WDR35 (L641* +1 more)	Single nucleotide variant (nonsense)	WDR35-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 446643	NM_020779.4(WDR35):c.1400+3A>G	WDR35	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446644	NM_020779.4(WDR35):c.932G>T (p.Trp311Leu)	WDR35 (W311L)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 7 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 446691	NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln)	TTC21B (R898Q)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +3 more	GUncertain significance
Select item 446649	NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter)	TTC21B (Q834*)	Single nucleotide variant (nonsense)	Nephronophthisis +1 more	GPathogenic
Select item 261770	NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp)	TTC21B (R672W)	Single nucleotide variant (missense variant)	Nephronophthisis +2 more	GConflicting classifications of pathogenicity
Select item 432560	NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr)	TTC21B (A499T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 446646	NM_024753.5(TTC21B):c.1397C>A (p.Pro466His)	TTC21B (P466H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446650	NM_024753.5(TTC21B):c.1320del (p.Phe440fs)	TTC21B (F440fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 4 +4 more	GPathogenic/Likely pathogenic
Select item 446647	NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro)	TTC21B, TTC21B-AS1 (A235P)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 446658	NM_015650.4(TRAF3IP1):c.1358C>G (p.Ser453Cys)	TRAF3IP1 (S453C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446657	NM_015650.4(TRAF3IP1):c.1368-1del	TRAF3IP1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 446653	NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe)	IFT80, TRIM59-IFT80 (L521F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 406217	NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala)	IFT80, TRIM59-IFT80 (T365A +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 406218	NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)	IFT80, TRIM59-IFT80 (G241R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446654	NM_020800.3(IFT80):c.572T>A (p.Ile191Asn)	TRIM59-IFT80, IFT80 (I191N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 195541	NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs)	EVC2 (G1136fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +2 more	GPathogenic
Select item 446666	NM_147127.5(EVC2):c.3360+1G>A	EVC2	Single nucleotide variant (splice donor variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446693	NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn)	EVC2 (K913N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 446665	NM_147127.5(EVC2):c.1713dup (p.Asn572fs)	EVC2 (N572fs +1 more)	Duplication (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 446663	NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr)	EVC2 (D207Y +1 more)	Single nucleotide variant (missense variant)	Ellis-van Creveld syndrome +1 more	GPathogenic/Likely pathogenic
Select item 446640	NM_025132.4(WDR19):c.746T>C (p.Phe249Ser)	WDR19 (F249S +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446634	NM_025132.4(WDR19):c.781dup (p.Thr261fs)	WDR19 (T101fs +1 more)	Duplication (frameshift variant)	WDR19-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 446633	NM_025132.4(WDR19):c.817A>G (p.Asn273Asp)	WDR19 (N273D +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +4 more	GUncertain significance
Select item 446635	NM_025132.4(WDR19):c.880G>A (p.Gly294Arg)	WDR19 (G294R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +1 more	GPathogenic
Select item 446641	NM_025132.4(WDR19):c.1483G>C (p.Gly495Arg)	WDR19 (G495R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 5 +1 more	GLikely pathogenic
Select item 446642	NM_025132.4(WDR19):c.2563C>T (p.Gln855Ter)	WDR19 (Q855* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 127159	NM_025132.4(WDR19):c.3565+1G>A	WDR19	Single nucleotide variant (splice donor variant)	Nephronophthisis 13 +4 more	GPathogenic/Likely pathogenic
Select item 446639	NM_025132.4(WDR19):c.3716+1G>A	WDR19	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446638	NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)	WDR19 (C1267Y +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446695	NM_015693.4(INTU):c.1288C>T (p.Arg430Cys)	INTU, LOC126807151 (R430C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 446689	NM_015693.4(INTU):c.1628G>A (p.Arg543His)	INTU (R543H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 446690	NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)	NEK1 (E374D)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 374626	NM_018051.5(DYNC2I1):c.1777C>T (p.Arg593Trp)	DYNC2I1 (R593W +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446627	NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)	DYNC2I1 (E769K +4 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 8 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 446684	NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys)	IFT74 (G352C +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GConflicting classifications of pathogenicity
Select item 446622	NM_052844.4(DYNC2I2):c.1567_1582del (p.Glu523fs)	DYNC2I2 (E523fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446621	NM_052844.4(DYNC2I2):c.1480C>T (p.Gln494Ter)	DYNC2I2, SPTAN1 (Q494*)	Single nucleotide variant (nonsense)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 97042	NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser)	DYNC2I2, LOC126860772 (G393S)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 11 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 446626	NM_052844.4(DYNC2I2):c.935T>C (p.Phe312Ser)	DYNC2I2, LOC126860772 (F312S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446625	NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp)	DYNC2I2 (R182W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446610	NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)	DYNC2H1 (Y109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 302000	NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)	DYNC2H1 (R113W)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +2 more	GUncertain significance
Select item 446586	NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)	DYNC2H1 (F209I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 446575	NM_001377.3(DYNC2H1):c.767-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GPathogenic
Select item 40070	NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	DYNC2H1 (R330C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 446560	NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)	DYNC2H1 (R360*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 446677	NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)	DYNC2H1 (A384V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 446591	NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His)	DYNC2H1 (R430H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 446556	NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)	DYNC2H1 (E436*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 199053	NM_001377.3(DYNC2H1):c.1360+2del	DYNC2H1	Deletion (splice donor variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 446569	NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs)	DYNC2H1 (L553fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 6506	NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	DYNC2H1 (R587C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 437419	NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446679	NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs)	DYNC2H1 (A681fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 446557	NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg)	DYNC2H1 (M742R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446566	NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)	DYNC2H1 (Y781D)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446537	NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)	DYNC2H1 (L1020*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 446553	NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs)	DYNC2H1 (Q1032fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 195661	NM_001377.3(DYNC2H1):c.3097-4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 195733	NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs)	DYNC2H1 (S1118fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +6 more	GConflicting classifications of pathogenicity
Select item 446562	NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)	DYNC2H1 (R1358H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 446585	NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup)	DYNC2H1	Duplication (inframe_insertion)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 446611	NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)	DYNC2H1 (R1423C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 446614	NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr)	DYNC2H1 (I1473T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446678	NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs)	DYNC2H1 (F1486fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 446596	NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr)	DYNC2H1 (C1518Y)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 373013	NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)	DYNC2H1 (A1542V)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 446551	NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)	DYNC2H1 (L1567V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 446616	NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met)	DYNC2H1 (T1696M)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 446578	NM_001377.3(DYNC2H1):c.5558+2T>C	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446563	NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs)	DYNC2H1 (T1871fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 302051	NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)	DYNC2H1 (L1931F)	Single nucleotide variant (missense variant)	Neonatal respiratory distress +3 more	GConflicting classifications of pathogenicity
Select item 446588	NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs)	DYNC2H1 (V1976fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 419236	NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)	DYNC2H1 (A1995T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 446619	NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val)	DYNC2H1 (A1995V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 216490	NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	DYNC2H1 (Y2016C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 446568	NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)	DYNC2H1 (R2039H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 446688	NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser)	DYNC2H1 (C2054S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446554	NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)	DYNC2H1 (N2089D)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 446572	NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)	DYNC2H1 (N2160K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 6507	NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	DYNC2H1 (R2205H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 446539	NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)	DYNC2H1 (A2304T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 446544	NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu)	DYNC2H1 (R2426L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446600	NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)	DYNC2H1 (A2470G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446535	NM_001377.3(DYNC2H1):c.7438-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446605	NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)	DYNC2H1 (R2481*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic
Select item 446613	NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	DYNC2H1 (R2532W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 446589	NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met)	DYNC2H1 (V2555M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 446617	NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys)	DYNC2H1 (G2649C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446533	NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)	DYNC2H1 (R2656C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 446620	NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)	DYNC2H1 (R2656H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446558	NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr)	DYNC2H1 (M2671T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 446607	NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)	DYNC2H1 (G2684*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 446604	NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys)	DYNC2H1 (G2733C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic
Select item 446592	NM_001377.3(DYNC2H1):c.8311+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GPathogenic/Likely pathogenic

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