ClinVar for MedGen (Select 482832) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258083	NM_001376.5(DYNC1H1):c.12227G>A (p.Gly4076Asp)	DYNC1H1 (G4076D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 3256649	NM_001376.5(DYNC1H1):c.13108_13114del (p.Ser4370fs)	DYNC1H1 (S4370fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 3254984	NM_001376.5(DYNC1H1):c.6514del (p.Arg2172fs)	DYNC1H1 (R2172fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 3236613	NM_001376.5(DYNC1H1):c.8780G>A (p.Arg2927His)	DYNC1H1 (R2927H)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +1 more	GUncertain significance
Select item 3235895	NM_001376.5(DYNC1H1):c.4603G>A (p.Asp1535Asn)	DYNC1H1 (D1535N)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GUncertain significance
Select item 2683954	NM_001376.5(DYNC1H1):c.2234C>T (p.Thr745Ile)	DYNC1H1 (T745I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2665076	NM_001376.5(DYNC1H1):c.8606G>T (p.Arg2869Leu)	DYNC1H1 (R2869L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GUncertain significance
Select item 2664994	NM_001376.5(DYNC1H1):c.10237C>T (p.Arg3413Cys)	DYNC1H1 (R3413C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2664972	NM_001376.5(DYNC1H1):c.1352G>A (p.Arg451His)	DYNC1H1 (R451H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2664227	NM_006734.4(HIVEP2):c.1610C>T (p.Ser537Phe)	HIVEP2 (S537F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2627075	NM_001376.5(DYNC1H1):c.10198-10T>G	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2585408	NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)	DYNC1H1 (P1356L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2585064	NM_001376.5(DYNC1H1):c.10550C>T (p.Ala3517Val)	DYNC1H1 (A3517V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2582561	NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)	DYNC1H1 (A2050P)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GLikely pathogenic
Select item 2581036	NM_001376.5(DYNC1H1):c.2327delinsGGGT (p.Pro776delinsArgVal)	DYNC1H1	Indel (inframe_indel)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2581023	NM_001376.5(DYNC1H1):c.12490A>G (p.Ile4164Val)	DYNC1H1 (I4164V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 2581004	NM_001376.5(DYNC1H1):c.9868A>G (p.Ile3290Val)	DYNC1H1 (I3290V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2572651	NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)	DYNC1H1 (L2315V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2572598	NM_001376.5(DYNC1H1):c.3365C>T (p.Ser1122Phe)	DYNC1H1 (S1122F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2500292	NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)	DYNC1H1 (E2665G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2500271	NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)	DYNC1H1 (L1968F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2442374	NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)	DYNC1H1 (S2290R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 2431810	NM_001376.5(DYNC1H1):c.4367A>G (p.Glu1456Gly)	DYNC1H1 (E1456G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2430243	NM_001376.5(DYNC1H1):c.6071G>A (p.Gly2024Asp)	DYNC1H1 (G2024D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 2429075	NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)	DYNC1H1 (W1351*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1992318	NM_001376.5(DYNC1H1):c.7606G>A (p.Asp2536Asn)	DYNC1H1 (D2536N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1878654	NM_001376.5(DYNC1H1):c.9286G>A (p.Asp3096Asn)	DYNC1H1, LOC126862060 (D3096N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1878574	NM_001376.5(DYNC1H1):c.195G>T (p.Met65Ile)	DYNC1H1 (M65I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1805869	NM_001376.5(DYNC1H1):c.19G>T (p.Gly7Cys)	DYNC1H1 (G7C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 1805723	NM_001376.5(DYNC1H1):c.2973G>A (p.Met991Ile)	DYNC1H1 (M991I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1805169	NM_001376.5(DYNC1H1):c.4501A>C (p.Ile1501Leu)	DYNC1H1 (I1501L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1804111	NM_001376.5(DYNC1H1):c.10238G>A (p.Arg3413His)	DYNC1H1 (R3413H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 1803746	NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)	DYNC1H1 (D1958G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 1803222	NM_001376.5(DYNC1H1):c.5557G>A (p.Val1853Met)	DYNC1H1 (V1853M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1727057	NM_001376.5(DYNC1H1):c.3961-1G>A	DYNC1H1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1709387	NM_001376.5(DYNC1H1):c.6058C>G (p.Pro2020Ala)	DYNC1H1 (P2020A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1708502	NM_001376.5(DYNC1H1):c.8929C>T (p.Arg2977Trp)	DYNC1H1, LOC126862060 (R2977W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1708257	NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)	DYNC1H1 (V2291G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1705612	NM_001376.5(DYNC1H1):c.10561G>C (p.Asp3521His)	DYNC1H1 (D3521H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1703762	NM_001376.5(DYNC1H1):c.12673G>T (p.Asp4225Tyr)	DYNC1H1 (D4225Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1703252	NM_001376.5(DYNC1H1):c.4147T>C (p.Tyr1383His)	DYNC1H1 (Y1383H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1700199	NM_001376.5(DYNC1H1):c.8234C>A (p.Thr2745Lys)	DYNC1H1 (T2745K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GPathogenic
Select item 1697295	NM_001376.5:c.(4883+1_4884-1)_(8177+1_8178-1)del	DYNC1H1	Deletion	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1697224	NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser)	DYNC1H1, LOC126862060 (G3019S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1683572	NM_001376.5(DYNC1H1):c.2648A>G (p.Lys883Arg)	DYNC1H1 (K883R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1683571	NM_001376.5(DYNC1H1):c.13872C>A (p.Phe4624Leu)	DYNC1H1 (F4624L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1679155	NM_001376.5(DYNC1H1):c.2476T>C (p.Ser826Pro)	DYNC1H1 (S826P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1675167	NM_001376.5(DYNC1H1):c.11464C>T (p.His3822Tyr)	DYNC1H1 (H3822Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GUncertain significance
Select item 1494187	NM_001376.5(DYNC1H1):c.11851G>T (p.Val3951Phe)	DYNC1H1 (V3951F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GUncertain significance
Select item 1480475	NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)	DYNC1H1 (L1533V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1471885	NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met)	DYNC1H1 (T2421M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GConflicting classifications of pathogenicity
Select item 1464864	NM_001376.5(DYNC1H1):c.10549G>A (p.Ala3517Thr)	DYNC1H1 (A3517T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GUncertain significance
Select item 1452023	NM_001376.5(DYNC1H1):c.13515+19dup	DYNC1H1	Duplication (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GLikely benign
Select item 1424891	NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)	DYNC1H1 (R4140H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +3 more	GConflicting classifications of pathogenicity
Select item 1359385	NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)	DYNC1H1 (S3672L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GConflicting classifications of pathogenicity
Select item 1342427	NM_001376.5(DYNC1H1):c.4884G>A (p.Arg1628=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 1341758	NM_001376.5(DYNC1H1):c.5182G>A (p.Gly1728Ser)	DYNC1H1 (G1728S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1341347	NM_001376.5(DYNC1H1):c.13373-4G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GLikely benign
Select item 1339084	NM_001376.5(DYNC1H1):c.10117T>C (p.Ser3373Pro)	DYNC1H1 (S3373P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1339068	NM_001376.5(DYNC1H1):c.8324A>G (p.Glu2775Gly)	DYNC1H1 (E2775G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1334533	NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)	DYNC1H1 (Y3183fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GLikely pathogenic
Select item 1330264	NM_001376.5(DYNC1H1):c.5049+4A>G	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1321263	NM_001376.5(DYNC1H1):c.11222G>A (p.Arg3741His)	DYNC1H1 (R3741H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1320210	NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs)	DYNC1H1 (S2384fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1320087	NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys)	DYNC1H1 (G4072C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1319927	NM_001376.5(DYNC1H1):c.1411C>T (p.Arg471Cys)	DYNC1H1 (R471C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298386	NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)	DYNC1H1 (R3339H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GPathogenic/Likely pathogenic
Select item 1285465	NM_001376.5(DYNC1H1):c.11690+5G>A	DYNC1H1	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 1251929	NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA	DYNC1H1	Indel (splice donor variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1240405	NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala)	DYNC1H1 (P3647A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 1213733	NM_001376.5(DYNC1H1):c.1273G>T (p.Asp425Tyr)	DYNC1H1 (D425Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1184382	NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp)	DYNC1H1 (S28W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GUncertain significance
Select item 1164040	NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu)	DYNC1H1, LOC126862060 (P3070L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1075692	NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala)	DYNC1H1 (E580A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GPathogenic/Likely pathogenic
Select item 1065624	NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys)	DYNC1H1 (E3251K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1057796	NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)	DYNC1H1 (G3848D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1052098	NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile)	DYNC1H1 (V4593I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1033420	NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)	DYNC1H1 (R2492*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 1029331	NM_001376.5(DYNC1H1):c.7779G>C (p.Leu2593Phe)	DYNC1H1 (L2593F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 1029329	NM_001376.5(DYNC1H1):c.4074G>A (p.Lys1358=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 996885	NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly)	DYNC1H1, LOC126862060 (S3146G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 988598	NM_001376.5(DYNC1H1):c.12722C>G (p.Ser4241Cys)	DYNC1H1 (S4241C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +2 more	GUncertain significance
Select item 983115	NM_001376.5(DYNC1H1):c.3563A>G (p.Glu1188Gly)	DYNC1H1 (E1188G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 983088	NM_001376.5(DYNC1H1):c.8216C>T (p.Pro2739Leu)	DYNC1H1 (P2739L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GUncertain significance
Select item 982939	NM_001376.5(DYNC1H1):c.6136C>T (p.Arg2046Trp)	DYNC1H1 (R2046W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 981304	NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)	DYNC1H1, LOC130056502 (Q967R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GLikely pathogenic
Select item 977900	NM_001376.5(DYNC1H1):c.5960A>G (p.Asn1987Ser)	DYNC1H1 (N1987S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 977885	NM_001376.5(DYNC1H1):c.9382G>T (p.Val3128Phe)	DYNC1H1, LOC126862060 (V3128F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 977881	NM_001376.5(DYNC1H1):c.11696C>T (p.Pro3899Leu)	DYNC1H1 (P3899L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 977612	NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)	DYNC1H1 (Q882K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GLikely pathogenic
Select item 976422	NM_001376.5(DYNC1H1):c.6467T>G (p.Leu2156Arg)	DYNC1H1 (L2156R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 976360	NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser)	DYNC1H1 (F1018S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +1 more	GConflicting classifications of pathogenicity
Select item 976187	NM_001376.5(DYNC1H1):c.3680G>A (p.Arg1227Gln)	DYNC1H1 (R1227Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GUncertain significance
Select item 976130	NM_001376.5(DYNC1H1):c.8945G>A (p.Arg2982His)	DYNC1H1, LOC126862060 (R2982H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely benign
Select item 976128	NM_001376.5(DYNC1H1):c.11702A>G (p.Tyr3901Cys)	DYNC1H1 (Y3901C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 976108	NM_001376.5(DYNC1H1):c.10175T>C (p.Met3392Thr)	DYNC1H1 (M3392T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 975897	NM_001376.5(DYNC1H1):c.4781T>G (p.Ile1594Ser)	DYNC1H1 (I1594S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GUncertain significance
Select item 975382	NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly)	DYNC1H1 (W1261G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GPathogenic
Select item 957428	NM_001376.5(DYNC1H1):c.1085C>T (p.Thr362Ile)	DYNC1H1 (T362I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 937426	NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys)	DYNC1H1 (R2235C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GUncertain significance

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