"Illumina Laboratory Services, Illumina"[submitter] AND "FAM161A"[gene - ClinVar

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897009	NM_001201543.2(FAM161A):c.*1551A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336709	NM_001201543.2(FAM161A):c.*1549G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336710	NM_001201543.2(FAM161A):c.*1507G>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897486	NM_001201543.2(FAM161A):c.*1432T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336711	NM_001201543.2(FAM161A):c.*1368A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336712	NM_001201543.2(FAM161A):c.*1349A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336713	NM_001201543.2(FAM161A):c.*1345G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897487	NM_001201543.2(FAM161A):c.*1299T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897488	NM_001201543.2(FAM161A):c.*1252A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336714	NM_001201543.2(FAM161A):c.*1223A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336715	NM_001201543.2(FAM161A):c.*1210T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 336716	NM_001201543.2(FAM161A):c.*1144T>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336717	NM_001201543.2(FAM161A):c.*1136G>T	FAM161A	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336718	NM_001201543.2(FAM161A):c.*1129A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336719	NM_001201543.2(FAM161A):c.*1100T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 336720	NM_001201543.2(FAM161A):c.*815del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 336721	NM_001201543.2(FAM161A):c.811_812insG	FAM161A	Insertion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GUncertain significance
Select item 336722	NM_001201543.2(FAM161A):c.*802A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898642	NM_001201543.2(FAM161A):c.*795G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336723	NM_001201543.2(FAM161A):c.*757G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895659	NM_001201543.2(FAM161A):c.*755G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336724	NM_001201543.2(FAM161A):c.*752A>G	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336725	NM_001201543.2(FAM161A):c.*617G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895660	NM_001201543.2(FAM161A):c.*525G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895661	NM_001201543.2(FAM161A):c.*523G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895662	NM_001201543.2(FAM161A):c.*519C>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336726	NM_001201543.2(FAM161A):c.*311A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 336727	NM_001201543.2(FAM161A):c.*300T>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GBenign
Select item 336728	NM_001201543.2(FAM161A):c.*248del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 336729	NM_001201543.2(FAM161A):c.*196A>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897076	NM_001201543.2(FAM161A):c.*83G>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336730	NM_001201543.2(FAM161A):c.*68G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897078	NM_001201543.2(FAM161A):c.*44G>A	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897077	NM_001201543.2(FAM161A):c.*44G>C	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336731	NM_001201543.2(FAM161A):c.41_43del	FAM161A	Deletion (3 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive	GLikely benign
Select item 336732	NM_001201543.2(FAM161A):c.*26C>T	FAM161A	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 167056	NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys)	FAM161A (E652K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 28 +2 more	GConflicting classifications of pathogenicity
Select item 897550	NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp)	FAM161A (E672D +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 336734	NM_001201543.2(FAM161A):c.1989C>T (p.Val663=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 336735	NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys)	FAM161A (N657K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 718004	NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp)	FAM161A (E597D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 287585	NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 336736	NM_001201543.2(FAM161A):c.1841G>A (p.Arg614Lys)	FAM161A (R558K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 897551	NM_001201543.2(FAM161A):c.1583+13G>A	FAM161A	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 898703	NM_001201543.2(FAM161A):c.1583+11A>G	FAM161A	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 898704	NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly)	FAM161A (W488G)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 336737	NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln)	FAM161A (E470Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 731343	NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg)	FAM161A (H464R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 898705	NM_001201543.2(FAM161A):c.1368A>G (p.Pro456=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 36	NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)	FAM161A (R437*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 336738	NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile)	FAM161A (V424I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 898706	NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg)	FAM161A (G405R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 895728	NM_001201543.2(FAM161A):c.1212T>G (p.Cys404Trp)	FAM161A (C404W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 96217	NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 28 +4 more	GBenign
Select item 96216	NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu)	FAM161A (Q385E)	Single nucleotide variant (missense variant +1 more)	FAM161A-related condition +2 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 28 +4 more	GConflicting classifications of pathogenicity
Select item 895729	NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu)	FAM161A (R362L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 728519	NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 895730	NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu)	FAM161A (K340E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 336739	NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln)	FAM161A (R338Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896010	NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val)	FAM161A (I328V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 336740	NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp)	FAM161A (R306W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 717824	NM_001201543.2(FAM161A):c.906A>G (p.Gln302=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 715903	NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys)	FAM161A (E273K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 896011	NM_001201543.2(FAM161A):c.746A>G (p.Gln249Arg)	FAM161A (Q249R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 336741	NM_001201543.2(FAM161A):c.717G>A (p.Pro239=)	FAM161A	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 336742	NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val)	FAM161A (I236V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 808753	NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg)	FAM161A (Q165R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 775173	NM_001201543.2(FAM161A):c.423-7C>T	FAM161A	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
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 336744	NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met)	FAM161A (I107M)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 167059	NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)	FAM161A (T66I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28 +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 336745	NM_001201543.2(FAM161A):c.161T>A (p.Val54Glu)	FAM161A, LOC129933843 (V54E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 898764	NM_001201543.2(FAM161A):c.159A>G (p.Lys53=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 898765	NM_001201543.2(FAM161A):c.2T>C (p.Met1Thr)	FAM161A (M1T)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa	GUncertain significance
Select item 336746	NM_001201543.2(FAM161A):c.-16C>G	FAM161A	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GLikely benign
Select item 336747	NM_032180.2(FAM161A):c.-41T>C	FAM161A	Single nucleotide variant	Retinitis pigmentosa 28 +1 more	GBenign
Select item 898766	NM_032180.2(FAM161A):c.-81A>T	FAM161A	Single nucleotide variant	Retinitis pigmentosa	GUncertain significance

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Items: 80