C3281202[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128939	NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures +6 more	GBenign
Select item 128935	NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 128937	NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 210869	NM_001376.5(DYNC1H1):c.4395+2C>T	DYNC1H1	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease +6 more	GBenign/Likely benign
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 210873	NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +8 more	GConflicting classifications of pathogenicity
Select item 434987	NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)	DYNC1H1 (M2041T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 128940	NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=)	DYNC1H1	Single nucleotide variant (synonymous variant)	not provided +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 specified +5 more	GConflicting classifications of pathogenicity
Select item 210876	NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +7 more	GBenign/Likely benign
Select item 210882	NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)	DYNC1H1 (E2640K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 128944	NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=)	LOC126862060, DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +6 more	GBenign
Select item 434992	NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)	DYNC1H1 (A3320V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
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 +8 more	GBenign/Likely benign
Select item 380403	NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)	DYNC1H1 (L3508I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 210861	NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)	DYNC1H1 (R3728P)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13	GLikely pathogenic
Select item 198352	NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg)	DYNC1H1 (T3981R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +8 more	GBenign/Likely benign
Select item 128929	NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=)	DYNC1H1	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2O +7 more	GBenign
Select item 128932	NM_001376.5(DYNC1H1):c.13372+9G>A	DYNC1H1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +7 more	GBenign