"Athena Diagnostics"[submitter] AND "DYNC1H1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 312615	NM_001376.5(DYNC1H1):c.-5A>G	DYNC1H1	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign
Select item 128938	NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 385681	NM_001376.5(DYNC1H1):c.256+4C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign/Likely benign
Select item 883657	NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 447281	NM_001376.5(DYNC1H1):c.407G>A (p.Arg136Gln)	DYNC1H1 (R136Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
Select item 246523	NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)	DYNC1H1 (V137I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 377816	NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 585810	NM_001376.5(DYNC1H1):c.1626C>T (p.Gly542=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 511900	NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GBenign/Likely benign
Select item 585811	NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 128924	NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 585812	NM_001376.5(DYNC1H1):c.2538+10C>T	DYNC1H1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 128933	NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 210868	NM_001376.5(DYNC1H1):c.2719-6C>T	DYNC1H1	Single nucleotide variant (intron variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 312625	NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 434985	NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)	DYNC1H1 (V913I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 128937	NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 383974	NM_001376.5(DYNC1H1):c.4075-6C>T	DYNC1H1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 195580	NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 312628	NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 195810	NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1256079	NM_001376.5(DYNC1H1):c.5049+8T>C	DYNC1H1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 210871	NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 512261	NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GBenign/Likely benign
Select item 585813	NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 472547	NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 1380335	NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met)	DYNC1H1 (V2283M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity
Select item 539775	NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)	DYNC1H1 (N2329S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 128940	NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +7 more	GBenign/Likely benign
Select item 210875	NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn)	DYNC1H1 (K2401N)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 382442	NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 995358	NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val)	DYNC1H1 (A2470V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GConflicting classifications of pathogenicity
Select item 128941	NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 128942	NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 128943	NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 388570	NM_001376.5(DYNC1H1):c.7896G>A (p.Leu2632=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GLikely benign
Select item 1003758	NM_001376.5(DYNC1H1):c.8055+6T>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GUncertain significance
Select item 312642	NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
Select item 585814	NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser)	DYNC1H1, LOC126862060 (C2985S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 210887	NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=)	DYNC1H1, LOC126862060	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 238992	NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign/Likely benign
Select item 2684178	NM_001376.5(DYNC1H1):c.10078A>G (p.Ser3360Gly)	DYNC1H1 (S3360G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384931	NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign/Likely benign
Select item 380403	NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)	DYNC1H1 (L3508I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GConflicting classifications of pathogenicity
Select item 198001	NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 447280	NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 390987	NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +1 more	GBenign/Likely benign
Select item 238989	NM_001376.5(DYNC1H1):c.11596-7G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GBenign/Likely benign
Select item 210863	NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 804766	NM_001376.5(DYNC1H1):c.11894C>T (p.Ser3965Phe)	DYNC1H1 (S3965F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198352	NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)	DYNC1H1 (T3981R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GBenign/Likely benign
Select item 704373	NM_001376.5(DYNC1H1):c.12072G>A (p.Pro4024=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 128928	NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln)	DYNC1H1 (H4029Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +5 more	GBenign
Select item 238993	NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign
Select item 379520	NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 585807	NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 387817	NM_001376.5(DYNC1H1):c.12513+10T>G	DYNC1H1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 128930	NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)	DYNC1H1 (T4394M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 312663	NM_001376.5(DYNC1H1):c.13219-9C>T	DYNC1H1	Single nucleotide variant (intron variant)	Autosomal dominant cerebellar ataxia +4 more	GBenign
Select item 128932	NM_001376.5(DYNC1H1):c.13372+9G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign
Select item 1363072	NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser)	DYNC1H1 (P4470S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
Select item 585808	NM_001376.5(DYNC1H1):c.13422C>T (p.Thr4474=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 648018	NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)	DYNC1H1 (A4551T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 585809	NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 64