C1834690[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385681	NM_001376.5(DYNC1H1):c.256+4C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +5 more	GBenign/Likely benign
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 139652	NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)	DYNC1H1 (R598C)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +5 more	GPathogenic/Likely pathogenic
Select item 668740	NM_001376.5(DYNC1H1):c.3015+18C>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign/Likely benign
Select item 451293	NM_001376.5(DYNC1H1):c.3803C>T (p.Thr1268Met)	DYNC1H1 (T1268M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 128937	NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign/Likely benign
Select item 1480475	NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)	DYNC1H1 (L1533V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +3 more	GConflicting classifications of pathogenicity
Select item 472540	NM_001376.5(DYNC1H1):c.5165C>T (p.Thr1722Met)	DYNC1H1 (T1722M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GUncertain significance
Select item 312631	NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 289398	NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)	DYNC1H1 (S1783G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GConflicting classifications of pathogenicity
Select item 373213	NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)	DYNC1H1 (R1962H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GLikely pathogenic
Select item 128940	NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign/Likely benign
Select item 210876	NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +7 more	GBenign/Likely benign
Select item 239003	NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His)	DYNC1H1 (R2488H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 312642	NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign/Likely benign
Select item 472564	NM_001376.5(DYNC1H1):c.9193G>A (p.Val3065Met)	DYNC1H1, LOC126862060 (V3065M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +2 more	GUncertain significance
Select item 565727	NM_001376.5(DYNC1H1):c.9607G>A (p.Val3203Met)	DYNC1H1 (V3203M)	Single nucleotide variant (missense variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +3 more	GUncertain significance
Select item 844205	NM_001376.5(DYNC1H1):c.9642+4C>T	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +3 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 +8 more	GBenign/Likely benign
Select item 546509	NM_001376.5(DYNC1H1):c.10354G>A (p.Ala3452Thr)	DYNC1H1 (A3452T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +3 more	GConflicting classifications of pathogenicity
Select item 387816	NM_001376.5(DYNC1H1):c.10414-13G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign/Likely benign
Select item 1057796	NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)	DYNC1H1 (G3848D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +3 more	GConflicting classifications of pathogenicity
Select item 198352	NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)	DYNC1H1 (T3981R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +8 more	GBenign/Likely benign
Select item 415331	NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 13 +3 more	GLikely benign
Select item 387817	NM_001376.5(DYNC1H1):c.12513+10T>G	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease axonal type 2O +4 more	GBenign/Likely benign
Select item 539761	NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)	DYNC1H1 (G4472S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2O +2 more	GConflicting classifications of pathogenicity
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

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Items: 27