C1862939[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 259239	NM_004082.5(DCTN1):c.3610-20C>G	DCTN1	Single nucleotide variant (intron variant)	Perry syndrome +4 more	GBenign
Select item 284990	NM_004082.5(DCTN1):c.3529+5G>A	DCTN1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 337078	NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)	DCTN1 (R1049Q +6 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +6 more	GConflicting classifications of pathogenicity
Select item 468271	NM_004082.5(DCTN1):c.3137A>G (p.Glu1046Gly)	DCTN1 (E1046G +6 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 259235	NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +4 more	GBenign/Likely benign
Select item 8404	NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)	DCTN1 (R785W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 194953	NM_004082.5(DCTN1):c.2209G>A (p.Glu737Lys)	DCTN1 (E737K +6 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +4 more	GUncertain significance
Select item 259233	NM_004082.5(DCTN1):c.1605A>G (p.Thr535=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 579780	NM_004082.5(DCTN1):c.1595G>A (p.Arg532Gln)	DCTN1 (R398Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 259241	NM_004082.5(DCTN1):c.859C>A (p.Leu287Met)	DCTN1 (L153M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 337096	NM_004082.5(DCTN1):c.586A>G (p.Ile196Val)	DCTN1 (I159V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 66714	NM_006262.4(PRPH):c.26G>A (p.Arg9Gln)	PRPH, TROAP-AS1 (R9Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 339669	NM_000454.5(SOD1):c.423T>A (p.Ala141=)	SOD1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 522275	NM_021076.4(NEFH):c.1200C>T (p.Ala400=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66729	NM_021076.4(NEFH):c.1387G>A (p.Glu463Lys)	NEFH (E463K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 522276	NM_021076.4(NEFH):c.1740C>T (p.Ser580=)	NEFH	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 1 +3 more	GBenign/Likely benign
Select item 66733	NM_021076.4(NEFH):c.1844C>T (p.Pro615Leu)	NEFH (P615L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 522277	NM_021076.4(NEFH):c.1947_1964dup (p.646_651AKSPEK[3])	NEFH	Duplication (inframe_insertion)	Amyotrophic lateral sclerosis type 1 +1 more	GBenign
Select item 522183	NM_021076.4(NEFH):c.2232T>C (p.Ala744=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66741	NM_021076.4(NEFH):c.2414A>C (p.Glu805Ala)	NEFH (E805A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign
Select item 66743	NM_021076.4(NEFH):c.2784A>G (p.Val928=)	NEFH	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease axonal type 2CC +2 more	GBenign

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Items: 21