"PreventionGenetics, part of Exact Sciences"[submitter] AND "TARDBP"[g - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21481	NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +4 more	GConflicting classifications of pathogenicity
Select item 1963276	NM_007375.4(TARDBP):c.312C>T (p.Ser104=)	TARDBP	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 10 +2 more	GLikely benign
Select item 1571680	NM_007375.4(TARDBP):c.403-5T>C	TARDBP	Single nucleotide variant (intron variant)	TARDBP-related disorder +2 more	GLikely benign
Select item 916202	NM_007375.4(TARDBP):c.411A>G (p.Lys137=)	TARDBP	Single nucleotide variant (synonymous variant)	TARDBP-related frontotemporal dementia +3 more	GLikely benign
Select item 586811	NM_007375.4(TARDBP):c.669C>G (p.Pro223=)	TARDBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 21482	NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)	TARDBP	Single nucleotide variant (missense variant)	Frontotemporal lobar degeneration, TARDBP-related +5 more	GConflicting classifications of pathogenicity
Select item 21471	NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter)	TARDBP (Y374*)	Duplication (nonsense)	TARDBP-related disorder	GUncertain significance
Select item 2161595	NM_007375.4(TARDBP):c.1129T>A (p.Ser377Thr)	TARDBP (S377T)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +2 more	GConflicting classifications of pathogenicity
Select item 21474	NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)	TARDBP	Single nucleotide variant (missense variant)	TARDBP-related frontotemporal dementia +3 more	GPathogenic/Likely pathogenic
Select item 21477	NM_007375.4(TARDBP):c.1168A>G (p.Asn390Asp)	TARDBP (N390D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GConflicting classifications of pathogenicity
Select item 873795	NM_007375.4(TARDBP):c.*73G>C	TARDBP	Single nucleotide variant (3 prime UTR variant)	TARDBP-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3036600	NM_006610.4(MASP2):c.1857T>G (p.Ala619=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3058189	NM_006610.4(MASP2):c.1827G>A (p.Arg609=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3025596	NM_006610.4(MASP2):c.1773G>A (p.Pro591=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3033229	NM_006610.4(MASP2):c.1689G>A (p.Arg563=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3047483	NM_006610.4(MASP2):c.1647G>A (p.Thr549=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related disorder	GLikely benign
Select item 3050821	NM_006610.4(MASP2):c.1391G>C (p.Gly464Ala)	MASP2, TARDBP (G464A)	Single nucleotide variant (missense variant)	MASP2-related disorder	GBenign