"Eurofins Ntd Llc (ga)"[submitter] AND "FAM161A"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167056	NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)	FAM161A (E652K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 336733	NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 287585	NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 38	NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)	FAM161A (R523*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 552429	NM_001201543.2(FAM161A):c.1501del (p.Cys501fs)	FAM161A (C501fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely pathogenic
Select item 167057	NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys)	FAM161A (E481K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 37	NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs)	FAM161A (T452fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 96217	NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +4 more	GBenign
Select item 96216	NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)	FAM161A (Q385E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 167058	NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg)	FAM161A (L378R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 497934	NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter)	FAM161A (R335*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 498465	NM_001201543.2(FAM161A):c.787G>A (p.Glu263Lys)	FAM161A (E263K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 96218	NM_001201543.2(FAM161A):c.503C>G (p.Ser168Cys)	FAM161A (S168C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 336743	NM_001201543.2(FAM161A):c.354G>T (p.Gln118His)	FAM161A (Q118H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 167059	NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	FAM161A (T66I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 193465	NM_001201543.2(FAM161A):c.176G>A (p.Gly59Glu)	FAM161A, LOC129933843 (G59E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 193466	NM_001201543.2(FAM161A):c.165T>G (p.Ala55=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign