79659[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 153952	GRCh38/hg38 11q22.3(chr11:103078271-103830364)x3	DCUN1D5, DYNC2H1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 152545	GRCh38/hg38 11q22.3(chr11:103086228-103824315)x3	DCUN1D5, DYNC2H1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 879361	NM_001377.3(DYNC2H1):c.-148T>C	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 301993	NM_001377.3(DYNC2H1):c.-94G>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 514603	NM_001377.3(DYNC2H1):c.-40C>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 301994	NM_001377.3(DYNC2H1):c.-33C>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 1983801	NM_001377.3(DYNC2H1):c.1A>G (p.Met1Val)	DYNC2H1 (M1V)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1683440	NM_001377.3(DYNC2H1):c.2T>C (p.Met1Thr)	DYNC2H1 (M1T)	Single nucleotide variant (missense variant +1 more)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 934203	NM_001377.3(DYNC2H1):c.2del (p.Met1fs)	DYNC2H1 (M1fs)	Deletion (frameshift variant +1 more)	Jeune thoracic dystrophy	GUncertain significance
Select item 1598290	NM_001377.3(DYNC2H1):c.9C>T (p.Asn3=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2855499	NM_001377.3(DYNC2H1):c.15T>C (p.Thr5=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301995	NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 506321	NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 193155	NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2159867	NM_001377.3(DYNC2H1):c.35T>G (p.Phe12Cys)	DYNC2H1 (F12C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1937036	NM_001377.3(DYNC2H1):c.43A>T (p.Thr15Ser)	DYNC2H1 (T15S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2980221	NM_001377.3(DYNC2H1):c.45T>C (p.Thr15=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2830729	NM_001377.3(DYNC2H1):c.51C>A (p.Thr17=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1522304	NM_001377.3(DYNC2H1):c.54G>T (p.Gln18His)	DYNC2H1 (Q18H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2748903	NM_001377.3(DYNC2H1):c.60C>T (p.Tyr20=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1031038	NM_001377.3(DYNC2H1):c.61T>G (p.Phe21Val)	DYNC2H1 (F21V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 698370	NM_001377.3(DYNC2H1):c.64G>C (p.Gly22Arg)	DYNC2H1 (G22R)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2914096	NM_001377.3(DYNC2H1):c.66G>T (p.Gly22=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2180472	NM_001377.3(DYNC2H1):c.72G>A (p.Met24Ile)	DYNC2H1 (M24I)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2475146	NM_001377.3(DYNC2H1):c.104A>G (p.Asn35Ser)	DYNC2H1 (N35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2985107	NM_001377.3(DYNC2H1):c.108T>C (p.Cys36=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1177413	NM_001377.3(DYNC2H1):c.126C>A (p.Phe42Leu)	DYNC2H1 (F42L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2721172	NM_001377.3(DYNC2H1):c.132T>C (p.Asp44=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2881363	NM_001377.3(DYNC2H1):c.138C>T (p.Gly46=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2740000	NM_001377.3(DYNC2H1):c.145A>T (p.Met49Leu)	DYNC2H1 (M49L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 3018259	NM_001377.3(DYNC2H1):c.150C>T (p.Leu50=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 739999	NM_001377.3(DYNC2H1):c.163C>A (p.Arg55=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885697	NM_001377.3(DYNC2H1):c.172G>C (p.Ala58Pro)	DYNC2H1 (A58P)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1719919	NM_001377.3(DYNC2H1):c.173C>G (p.Ala58Gly)	DYNC2H1 (A58G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 704982	NM_001377.3(DYNC2H1):c.183C>G (p.Ser61=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2115130	NM_001377.3(DYNC2H1):c.192C>G (p.Asn64Lys)	DYNC2H1 (N64K)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 446598	NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro)	DYNC2H1 (T65P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446561	NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 2799294	NM_001377.3(DYNC2H1):c.195+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 528899	NM_001377.3(DYNC2H1):c.195+5G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2767343	NM_001377.3(DYNC2H1):c.195+7T>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301996	NM_001377.3(DYNC2H1):c.195+7T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 2991114	NM_001377.3(DYNC2H1):c.195+12T>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2718137	NM_001377.3(DYNC2H1):c.195+14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2896535	NM_001377.3(DYNC2H1):c.195+16C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2160909	NM_001377.3(DYNC2H1):c.195+19C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 676692	NM_001377.3(DYNC2H1):c.195+96A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208767	NM_001377.3(DYNC2H1):c.196-282G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202750	NM_001377.3(DYNC2H1):c.196-260G>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906500	NM_001377.3(DYNC2H1):c.196-17A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301997	NM_001377.3(DYNC2H1):c.196-13T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 2730448	NM_001377.3(DYNC2H1):c.196-9T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2733655	NM_001377.3(DYNC2H1):c.196-7A>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1345798	NM_001377.3(DYNC2H1):c.196-6C>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2744337	NM_001377.3(DYNC2H1):c.196-5T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2466519	NM_001377.3(DYNC2H1):c.211A>C (p.Thr71Pro)	DYNC2H1 (T71P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2002527	NM_001377.3(DYNC2H1):c.216A>C (p.Lys72Asn)	DYNC2H1 (K72N)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2724256	NM_001377.3(DYNC2H1):c.219T>C (p.Asp73=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1224371	NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)	DYNC2H1 (R82*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 665199	NM_001377.3(DYNC2H1):c.254T>A (p.Val85Glu)	DYNC2H1 (V85E)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2905400	NM_001377.3(DYNC2H1):c.255A>G (p.Val85=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 301998	NM_001377.3(DYNC2H1):c.266A>G (p.Glu89Gly)	DYNC2H1 (E89G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GUncertain significance
Select item 2152393	NM_001377.3(DYNC2H1):c.269A>G (p.Asn90Ser)	DYNC2H1 (N90S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2840683	NM_001377.3(DYNC2H1):c.270T>C (p.Asn90=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 879727	NM_001377.3(DYNC2H1):c.282C>A (p.Asn94Lys)	DYNC2H1 (N94K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 301999	NM_001377.3(DYNC2H1):c.291T>A (p.Val97=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2705973	NM_001377.3(DYNC2H1):c.298_299del (p.Met100fs)	DYNC2H1 (M100fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 2995181	NM_001377.3(DYNC2H1):c.315T>A (p.Ile105=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 992905	NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)	DYNC2H1 (S106N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 2861556	NM_001377.3(DYNC2H1):c.324T>G (p.Leu108=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
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 2753208	NM_001377.3(DYNC2H1):c.336A>G (p.Val112=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
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 2865996	NM_001377.3(DYNC2H1):c.342A>G (p.Gln114=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2492490	NM_001377.3(DYNC2H1):c.343G>A (p.Val115Ile)	DYNC2H1 (V115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1405958	NM_001377.3(DYNC2H1):c.347T>C (p.Phe116Ser)	DYNC2H1 (F116S)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 511923	NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2979427	NM_001377.3(DYNC2H1):c.354A>G (p.Pro118=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2878580	NM_001377.3(DYNC2H1):c.360G>A (p.Leu120=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2102791	NM_001377.3(DYNC2H1):c.365A>C (p.Lys122Thr)	DYNC2H1 (K122T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GUncertain significance
Select item 2956660	NM_001377.3(DYNC2H1):c.366+8A>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 302001	NM_001377.3(DYNC2H1):c.366+10G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1597334	NM_001377.3(DYNC2H1):c.366+12A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2055957	NM_001377.3(DYNC2H1):c.366+16G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2852888	NM_001377.3(DYNC2H1):c.366+18C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1670348	NM_001377.3(DYNC2H1):c.366+19A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 1596105	NM_001377.3(DYNC2H1):c.366+27dup	DYNC2H1	Duplication (intron variant)	Jeune thoracic dystrophy	GBenign
Select item 1989421	NM_001377.3(DYNC2H1):c.366+27del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy	GBenign
Select item 1204913	NM_001377.3(DYNC2H1):c.366+22T>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672990	NM_001377.3(DYNC2H1):c.367-136G>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279042	NM_001377.3(DYNC2H1):c.367-33C>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3019883	NM_001377.3(DYNC2H1):c.367-14C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2700127	NM_001377.3(DYNC2H1):c.367-11T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 2797995	NM_001377.3(DYNC2H1):c.367-5T>C	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy	GLikely benign
Select item 591376	NM_001377.3(DYNC2H1):c.367-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GLikely pathogenic

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