1778[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	LOC130056380, LOC130056381 +755 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056535, LOC130056536 +671 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LOC130056672, LOC130056673 +667 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056604, LOC130056605 +654 more	Copy number gain	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +632 more	Copy number loss	See cases	GPathogenic
Select item 150931	GRCh38/hg38 14q32.2-32.31(chr14:100262836-102500697)x1	BEGAIN, CINP +215 more	Copy number loss	See cases	GPathogenic
Select item 146084	GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	MIR493, MIR494 +530 more	Copy number gain	See cases	GPathogenic
Select item 57267	GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	ADSS1, AHNAK2 +582 more	Copy number loss	See cases	GPathogenic
Select item 155595	GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	LOC130056480, LOC130056481 +571 more	Copy number loss	See cases	GPathogenic
Select item 57413	GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	IGHV1-46, IGHV1-58 +561 more	Copy number loss	See cases	GPathogenic
Select item 154386	GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	MIR6765, MIR8071-1 +441 more	Copy number loss	See cases	GPathogenic
Select item 584036	NC_000014.9:g.(?_101925141)_(101964947_?)del	DYNC1H1, LOC130056499 +2 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 150835	GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	ADSS1, AHNAK2 +416 more	Copy number loss	See cases	GPathogenic
Select item 1186011	NC_000014.9:g.101964271AGA[3]	DYNC1H1	Microsatellite	not provided	GLikely benign
Select item 1253515	NC_000014.9:g.101964370del	DYNC1H1	Deletion	not provided	GBenign
Select item 312612	NM_001376.4(DYNC1H1):c.-137C>T	DYNC1H1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 881715	NM_001376.4(DYNC1H1):c.-122C>T	DYNC1H1	Single nucleotide variant	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 881716	NM_001376.5(DYNC1H1):c.-90C>T	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia +1 more	GUncertain significance
Select item 312613	NM_001376.5(DYNC1H1):c.-53G>A	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign
Select item 1259203	NM_001376.5(DYNC1H1):c.-47T>A	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 312614	NM_001376.5(DYNC1H1):c.-13C>G	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GLikely benign
Select item 312615	NM_001376.5(DYNC1H1):c.-5A>G	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 590087	NM_001376.5(DYNC1H1):c.-3A>G	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2420538	NM_001376.5(DYNC1H1):c.9G>A (p.Glu3=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2910210	NM_001376.5(DYNC1H1):c.11C>T (p.Pro4Leu)	DYNC1H1 (P4L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2900297	NM_001376.5(DYNC1H1):c.12C>T (p.Pro4=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2890515	NM_001376.5(DYNC1H1):c.17_18insTGG (p.Gly9_Glu10insGly)	DYNC1H1	Insertion (inframe_insertion)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2580525	NM_001376.5(DYNC1H1):c.17GCG[6] (p.Gly9_Glu10insGlyGly)	DYNC1H1	Microsatellite (inframe_indel +1 more)	not provided	GUncertain significance
Select item 2144843	NM_001376.5(DYNC1H1):c.15G>A (p.Gly5=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1008257	NM_001376.5(DYNC1H1):c.17G>C (p.Gly6Ala)	DYNC1H1 (G6A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	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 2157376	NM_001376.5(DYNC1H1):c.21C>T (p.Gly7=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 839933	NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)	DYNC1H1 (G8S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2860830	NM_001376.5(DYNC1H1):c.24C>T (p.Gly8=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1704282	NM_001376.5(DYNC1H1):c.25G>A (p.Gly9Ser)	DYNC1H1 (G9S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1969629	NM_001376.5(DYNC1H1):c.26G>A (p.Gly9Asp)	DYNC1H1 (G9D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1413393	NM_001376.5(DYNC1H1):c.34G>C (p.Gly12Arg)	DYNC1H1 (G12R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 590000	NM_001376.5(DYNC1H1):c.36C>G (p.Gly12=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GLikely benign
Select item 1004923	NM_001376.5(DYNC1H1):c.38C>T (p.Ser13Leu)	DYNC1H1 (S13L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GLikely benign
Select item 1610270	NM_001376.5(DYNC1H1):c.39G>C (p.Ser13=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1918683	NM_001376.5(DYNC1H1):c.45A>C (p.Gly15=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 128938	NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 1743189	NM_001376.5(DYNC1H1):c.47T>C (p.Leu16Ser)	DYNC1H1 (L16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2787487	NM_001376.5(DYNC1H1):c.50A>G (p.Glu17Gly)	DYNC1H1 (E17G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1619603	NM_001376.5(DYNC1H1):c.51A>G (p.Glu17=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1747308	NM_001376.5(DYNC1H1):c.53T>C (p.Val18Ala)	DYNC1H1 (V18A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2165376	NM_001376.5(DYNC1H1):c.57G>A (p.Ser19=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2757268	NM_001376.5(DYNC1H1):c.60C>A (p.Ala20=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 434966	NM_001376.5(DYNC1H1):c.60C>G (p.Ala20=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1449399	NM_001376.5(DYNC1H1):c.65A>G (p.Gln22Arg)	DYNC1H1 (Q22R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 934009	NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)	DYNC1H1 (Q22H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 666149	NM_001376.5(DYNC1H1):c.73_74delinsAA (p.Ala25Lys)	DYNC1H1 (A25K)	Indel (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1929348	NM_001376.5(DYNC1H1):c.75G>A (p.Ala25=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 472552	NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1184382	NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp)	DYNC1H1 (S28W)	Single nucleotide variant (missense variant)	DYNC1H1-related disorder +2 more	GUncertain significance
Select item 800263	NM_001376.5(DYNC1H1):c.83C>T (p.Ser28Leu)	DYNC1H1 (S28L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 3365077	NM_001376.5(DYNC1H1):c.92_124dup (p.Leu41_Leu42insGlnLysHisLeuArgLysLeuValProLeuLeu)	DYNC1H1	Duplication	not provided	GUncertain significance
Select item 2717113	NM_001376.5(DYNC1H1):c.85G>C (p.Val29Leu)	DYNC1H1 (V29L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1935029	NM_001376.5(DYNC1H1):c.85G>A (p.Val29Met)	DYNC1H1 (V29M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1643605	NM_001376.5(DYNC1H1):c.87G>A (p.Val29=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2813537	NM_001376.5(DYNC1H1):c.91C>T (p.Gln31Ter)	DYNC1H1 (Q31*)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 581712	NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)	DYNC1H1 (Q31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 582955	NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)	DYNC1H1 (H33Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2976999	NM_001376.5(DYNC1H1):c.99C>G (p.His33Gln)	DYNC1H1 (H33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2728023	NM_001376.5(DYNC1H1):c.99C>A (p.His33Gln)	DYNC1H1 (H33Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 760331	NM_001376.5(DYNC1H1):c.99C>T (p.His33=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1785886	NM_001376.5(DYNC1H1):c.107A>G (p.Lys36Arg)	DYNC1H1 (K36R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1695537	NM_001376.5(DYNC1H1):c.108G>T (p.Lys36Asn)	DYNC1H1 (K36N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1524698	NM_001376.5(DYNC1H1):c.112G>C (p.Val38Leu)	DYNC1H1 (V38L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1083509	NM_001376.5(DYNC1H1):c.118C>T (p.Leu40=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1553292	NM_001376.5(DYNC1H1):c.120G>A (p.Leu40=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 539797	NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 944978	NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)	DYNC1H1 (G45R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 2047077	NM_001376.5(DYNC1H1):c.136G>A (p.Gly46Ser)	DYNC1H1 (G46S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 575849	NM_001376.5(DYNC1H1):c.137G>T (p.Gly46Val)	DYNC1H1 (G46V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2097214	NM_001376.5(DYNC1H1):c.142G>A (p.Ala48Thr)	DYNC1H1 (A48T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1311609	NM_001376.5(DYNC1H1):c.145C>G (p.Pro49Ala)	DYNC1H1 (P49A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017308	NM_001376.5(DYNC1H1):c.147G>A (p.Pro49=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 694840	NM_001376.5(DYNC1H1):c.148del (p.Ala50fs)	DYNC1H1 (A50fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease, type I	GUncertain significance
Select item 694841	NM_001376.5(DYNC1H1):c.149C>A (p.Ala50Asp)	DYNC1H1 (A50D)	Single nucleotide variant (missense variant)	Distal spinal muscular atrophy	GUncertain significance
Select item 779756	NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GLikely benign
Select item 1932306	NM_001376.5(DYNC1H1):c.151G>T (p.Ala51Ser)	DYNC1H1 (A51S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1709833	NM_001376.5(DYNC1H1):c.161_172del (p.50AALE[1])	DYNC1H1	Deletion (inframe_deletion)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +1 more	GConflicting classifications of pathogenicity
Select item 2850763	NM_001376.5(DYNC1H1):c.152C>T (p.Ala51Val)	DYNC1H1 (A51V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 1597954	NM_001376.5(DYNC1H1):c.153G>T (p.Ala51=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1077868	NM_001376.5(DYNC1H1):c.154C>T (p.Leu52=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2840704	NM_001376.5(DYNC1H1):c.157G>A (p.Glu53Lys)	DYNC1H1 (E53K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 312616	NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)	DYNC1H1 (A54V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2133708	NM_001376.5(DYNC1H1):c.162G>C (p.Ala54=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign
Select item 1702715	NM_001376.5(DYNC1H1):c.163G>A (p.Ala55Thr)	DYNC1H1 (A55T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1369871	NM_001376.5(DYNC1H1):c.169GAG[1] (p.Glu58del)	DYNC1H1 (E58del)	Microsatellite (inframe_deletion)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 944668	NM_001376.5(DYNC1H1):c.170A>G (p.Glu57Gly)	DYNC1H1 (E57G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2891406	NM_001376.5(DYNC1H1):c.171G>A (p.Glu57=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O	GLikely benign

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