ClinVar for MedGen (Select 334614) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805367	NM_012418.4(FSCN2):c.1106-25G>A	FSCN2 (A385T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 30 +1 more	GUncertain significance
Select item 852736	NM_012418.4(FSCN2):c.1105G>A (p.Gly369Ser)	FSCN2 (G369S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 845050	NM_012418.4(FSCN2):c.833A>G (p.Asn278Ser)	FSCN2 (N278S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 712297	NM_012418.4(FSCN2):c.633G>A (p.Thr211=)	FSCN2	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign
Select item 638506	NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys)	FSCN2 (Y433C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 30	GUncertain significance
Select item 618138	NM_012418.4(FSCN2):c.538C>T (p.Arg180Trp)	FSCN2 (R180W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 30 +2 more	GBenign/Likely benign
Select item 522327	NM_012418.4(FSCN2):c.1025G>A (p.Arg342Gln)	FSCN2 (R342Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 30 +1 more	GUncertain significance
Select item 377132	NM_012418.4(FSCN2):c.829G>A (p.Val277Ile)	FSCN2 (V277I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287052	NM_012418.4(FSCN2):c.718G>A (p.Ala240Thr)	FSCN2 (A240T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283804	NM_012418.4(FSCN2):c.357C>T (p.Ser119=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 196310	NM_012418.4(FSCN2):c.1092C>T (p.Ile364=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 193151	NM_012418.4(FSCN2):c.381G>A (p.Pro127=)	FSCN2	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 30 +3 more	GBenign
Select item 167104	NM_012418.4(FSCN2):c.150C>G (p.Pro50=)	FSCN2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 100561	NM_012418.4(FSCN2):c.49G>A (p.Val17Ile)	FSCN2 (V17I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 30 +1 more	GLikely benign
Select item 2945	NM_012418.4(FSCN2):c.72del (p.Thr25fs)	FSCN2 (T25fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity