Related gene-specific medical variations for Gene (Select 79659) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361977	NM_001377.3(DYNC2H1):c.4169C>T (p.Thr1390Ile)	DYNC2H1 (T1390I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359956	NM_001377.3(DYNC2H1):c.7417A>G (p.Met2473Val)	DYNC2H1 (M2473V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244579	NC_000011.9:g.(?_103128360)_(103282954_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244578	NC_000011.9:g.(?_103020818)_(103025478_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3244577	NC_000011.9:g.(?_103013977)_(103102095_?)dup	DYNC2H1	Duplication	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3244576	NC_000011.9:g.(?_103306651)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244575	NC_000011.9:g.(?_103270371)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244574	NC_000011.9:g.(?_103270371)_(103306780_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244572	NC_000011.9:g.(?_103228951)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244571	NC_000011.9:g.(?_103191738)_(103339453_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244570	NC_000011.9:g.(?_103173802)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244569	NC_000011.9:g.(?_103151057)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244568	NC_000011.9:g.(?_103126124)_(103128500_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244567	NC_000011.9:g.(?_103112236)_(103116123_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244566	NC_000011.9:g.(?_103090624)_(103092902_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244565	NC_000011.9:g.(?_103055605)_(103063013_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244564	NC_000011.9:g.(?_103349803)_(103349981_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244563	NC_000011.9:g.(?_103123994)_(103124197_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244561	NC_000011.9:g.(?_103115960)_(103116123_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3244560	NC_000011.9:g.(?_103036607)_(103036797_?)del	DYNC2H1	Deletion	Jeune thoracic dystrophy	GPathogenic
Select item 3065880	NM_001377.3(DYNC2H1):c.2149C>T (p.Arg717Cys)	DYNC2H1 (R717C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3065847	NM_001377.3(DYNC2H1):c.4069_4070insT (p.Gly1357fs)	DYNC2H1 (G1357fs)	Insertion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3065257	NM_001377.3(DYNC2H1):c.5445dup (p.Ala1816fs)	DYNC2H1 (A1816fs)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3065016	NM_001377.3(DYNC2H1):c.1468C>T (p.Arg490Cys)	DYNC2H1 (R490C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 3064425	NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)	DYNC2H1 (G2829fs)	Deletion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 3064232	NM_001377.3(DYNC2H1):c.10309G>A (p.Glu3437Lys)	DYNC2H1 (E3437K +1 more)	Single nucleotide variant (missense variant)	Ciliopathy	GUncertain significance
Select item 3064165	NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)	DYNC2H1 (A2012V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2690593	NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)	DYNC2H1 (N3797fs +1 more)	Duplication (frameshift variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 2688988	NM_001377.3(DYNC2H1):c.12567-3C>T	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2687844	NM_001377.3(DYNC2H1):c.11450T>C (p.Phe3817Ser)	DYNC2H1 (F3817S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 2441077	NM_001377.3(DYNC2H1):c.7912T>A (p.Ser2638Thr)	DYNC2H1 (S2638T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441076	NM_001377.3(DYNC2H1):c.4166C>T (p.Thr1389Ile)	DYNC2H1 (T1389I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441075	NM_001377.3(DYNC2H1):c.9041G>T (p.Arg3014Ile)	DYNC2H1 (R3014I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441074	NM_001377.3(DYNC2H1):c.10655A>C (p.Gln3552Pro)	DYNC2H1 (Q3552P +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441072	NM_001377.3(DYNC2H1):c.7793C>G (p.Pro2598Arg)	DYNC2H1 (P2598R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441071	NM_001377.3(DYNC2H1):c.3188C>G (p.Pro1063Arg)	DYNC2H1 (P1063R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 2441070	NM_001377.3(DYNC2H1):c.1037A>G (p.Tyr346Cys)	DYNC2H1 (Y346C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1344648	NM_001377.3(DYNC2H1):c.9638A>G (p.Tyr3213Cys)	DYNC2H1 (Y3213C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1340895	GRCh37/hg19 11q22.3(chr11:103152267-103223201)x1	DYNC2H1	Copy number loss	not provided	GLikely benign
Select item 1330380	NM_001377.3(DYNC2H1):c.9050T>C (p.Leu3017Pro)	DYNC2H1 (L3017P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 1322793	NM_001377.3(DYNC2H1):c.4093C>T (p.Gln1365Ter)	DYNC2H1 (Q1365*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1252018	NM_001377.3(DYNC2H1):c.3331G>A (p.Glu1111Lys)	DYNC2H1 (E1111K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 1224405	NM_001377.3(DYNC2H1):c.12547C>T (p.Leu4183Phe)	DYNC2H1 (L4183F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224327	NM_001377.3(DYNC2H1):c.10094A>T (p.Glu3365Val)	DYNC2H1 (E3365V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1224325	NM_001377.3(DYNC2H1):c.10606G>T (p.Asp3536Tyr)	DYNC2H1 (D3536Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995611	NM_001377.3(DYNC2H1):c.6700A>T (p.Thr2234Ser)	DYNC2H1 (T2234S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 994255	NM_001377.3(DYNC2H1):c.8218A>G (p.Thr2740Ala)	DYNC2H1 (T2740A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 993765	NM_001377.3(DYNC2H1):c.2719T>C (p.Cys907Arg)	DYNC2H1 (C907R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 975389	NM_001377.3(DYNC2H1):c.12836G>C (p.Arg4279Pro)	DYNC2H1 (R4279P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975387	NM_001377.3(DYNC2H1):c.12734T>C (p.Val4245Ala)	DYNC2H1 (V4245A +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975384	NM_001377.3(DYNC2H1):c.4966C>T (p.Gln1656Ter)	DYNC2H1 (Q1656*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely benign
Select item 931990	NM_001080463.1(DYNC2H1):c.7293-2_7298delAGTTACCC	DYNC2H1	Deletion	Asphyxiating thoracic dystrophy 3	GPathogenic
Select item 931146	NM_001377.3(DYNC2H1):c.6310C>T (p.Pro2104Ser)	DYNC2H1 (P2104S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 811817	NM_001377.3(DYNC2H1):c.1951A>G (p.Lys651Glu)	DYNC2H1 (K651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 811099	NM_001377.3(DYNC2H1):c.2000A>G (p.Asn667Ser)	DYNC2H1 (N667S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 692242	NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser)	DYNC2H1 (R4277S +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 692241	NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg)	DYNC2H1 (S3274R +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 688642	GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1	DYNC2H1	Copy number loss	not provided	GPathogenic
Select item 688641	GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1	DYNC2H1	Copy number loss	not provided	GPathogenic
Select item 688536	GRCh37/hg19 11q22.3(chr11:103297733-103368100)x1	DYNC2H1	Copy number loss	not provided	GPathogenic
Select item 688524	GRCh37/hg19 11q22.3(chr11:103128365-103282941)x1	DYNC2H1	Copy number loss	not provided	GPathogenic
Select item 685622	GRCh37/hg19 11q22.3(chr11:103200944-103454659)x1	DYNC2H1	Copy number loss	not provided	GPathogenic
Select item 685379	GRCh37/hg19 11q22.3(chr11:103128365-103282924)x1	DYNC2H1	Copy number loss	not provided	GUncertain significance
Select item 635868	Single allele	DYNC2H1	Deletion	Skeletal dysplasia	GLikely pathogenic
Select item 618613	NM_001377.3(DYNC2H1):c.10157T>C (p.Ile3386Thr)	DYNC2H1 (I3393T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618075	NM_001377.3(DYNC2H1):c.8882C>T (p.Ala2961Val)	DYNC2H1 (A2961V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618074	NM_001377.3(DYNC2H1):c.9842T>C (p.Ile3281Thr)	DYNC2H1 (I3288T +1 more)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GUncertain significance
Select item 592058	NM_001377.3(DYNC2H1):c.8410C>T (p.Gln2804Ter)	DYNC2H1 (Q2804*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591992	NM_001377.3(DYNC2H1):c.1377del (p.Phe459fs)	DYNC2H1 (F459fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591342	NM_001377.3(DYNC2H1):c.8243_8244insCTAATTCTTA (p.Leu2748_Leu2749insTer)	DYNC2H1	Insertion (nonsense +1 more)	not provided	GUncertain significance
Select item 591226	NM_001377.3(DYNC2H1):c.11851_11852delinsAA (p.Ser3951Lys)	DYNC2H1 (S3958K +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 591054	NM_001377.3(DYNC2H1):c.8816T>G (p.Ile2939Ser)	DYNC2H1 (I2939S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563805	GRCh37/hg19 11q22.3(chr11:103205399-103256732)x1	DYNC2H1	Copy number loss	not provided	GUncertain significance
Select item 429026	NM_001377.3(DYNC2H1):c.5053G>A (p.Gly1685Arg)	DYNC2H1 (G1685R)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 394482	GRCh37/hg19 11q22.3(chr11:103267305-103347787)x1	DYNC2H1	Copy number loss	See cases	GBenign
Select item 235295	NM_001377.3(DYNC2H1):c.10874C>T (p.Ala3625Val)	DYNC2H1 (A3632V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 58920	GRCh38/hg38 11q22.3(chr11:103328808-103570897)x1	DYNC2H1	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 77