Related gene-specific medical variations for Gene (Select 84140) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019963	NM_001201543.2(FAM161A):c.102C>T (p.Asp34=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903545	NM_001201543.2(FAM161A):c.183+12G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864024	NM_001201543.2(FAM161A):c.183+15G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851061	NM_001201543.2(FAM161A):c.183+9G>T	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2848580	NM_001201543.2(FAM161A):c.51C>A (p.Thr17=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845504	NM_001201543.2(FAM161A):c.51C>T (p.Thr17=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2845146	NM_001201543.2(FAM161A):c.56del (p.Val19fs)	FAM161A, LOC129933843 (V19fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2792020	NM_001201543.2(FAM161A):c.183+9G>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756499	NM_001201543.2(FAM161A):c.96C>A (p.Arg32=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2704220	NM_001201543.2(FAM161A):c.117G>C (p.Leu39=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2675398	NM_001201543.2(FAM161A):c.981del (p.Phe327fs)	FAM161A (F327fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675397	NM_001201543.2(FAM161A):c.356del (p.Asp119fs)	FAM161A (D119fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675396	NM_001201543.2(FAM161A):c.142del (p.Asp48fs)	FAM161A, LOC129933843 (D48fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675395	NM_001201543.2(FAM161A):c.695G>A (p.Trp232Ter)	FAM161A (W232*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675394	NM_001201543.2(FAM161A):c.421del (p.Arg141fs)	FAM161A (R141fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675393	NM_001201543.2(FAM161A):c.1403_1407del (p.Lys468fs)	FAM161A (K468fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675392	NM_001201543.2(FAM161A):c.688_700dup (p.Pro234fs)	FAM161A (P234fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675390	NM_001201543.2(FAM161A):c.1015G>T (p.Glu339Ter)	FAM161A (E339*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675389	NM_001201543.2(FAM161A):c.1336_1337del (p.Lys446fs)	FAM161A (K446fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675387	NM_001201543.2(FAM161A):c.2006+1G>A	FAM161A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675386	NM_001201543.2(FAM161A):c.404del (p.Ser135fs)	FAM161A (S135fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675384	NM_001201543.2(FAM161A):c.1245dup (p.Val416fs)	FAM161A (V416fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675383	NM_001201543.2(FAM161A):c.1093del (p.Tyr365fs)	FAM161A (Y365fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675382	NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)	FAM161A (C509fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675381	NM_001201543.2(FAM161A):c.1550_1554del (p.Thr517fs)	FAM161A (T517fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675380	NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)	FAM161A (E622* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 2675378	NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)	FAM161A (Q333*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675377	NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)	FAM161A (Y348*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675376	NM_001201543.2(FAM161A):c.1057_1058del (p.Asn353fs)	FAM161A (N353fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675375	NM_001201543.2(FAM161A):c.125_128delinsGGG (p.Ala42fs)	FAM161A, LOC129933843 (A42fs)	Indel (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675374	NM_001201543.2(FAM161A):c.534del (p.Leu178fs)	FAM161A (L178fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675371	NM_001201543.2(FAM161A):c.1109del (p.Asn370fs)	FAM161A (N370fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675370	NM_001201543.2(FAM161A):c.1651A>T (p.Arg551Ter)	FAM161A (R551*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675369	NM_001201543.2(FAM161A):c.1800_1801insTGA (p.Arg601Ter)	FAM161A (R545* +1 more)	Insertion (nonsense +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2675368	NM_001201543.2(FAM161A):c.110_116dup (p.Ala40fs)	FAM161A, LOC129933843 (A40fs)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 28	GLikely pathogenic
Select item 2609162	NM_001201543.2(FAM161A):c.115C>G (p.Leu39Val)	FAM161A, LOC129933843 (L39V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2187558	NM_001201543.2(FAM161A):c.119C>G (p.Ala40Gly)	FAM161A, LOC129933843 (A40G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2145392	NM_001201543.2(FAM161A):c.71G>A (p.Gly24Glu)	FAM161A, LOC129933843 (G24E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061774	NM_001201543.2(FAM161A):c.180A>T (p.Ala60=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2059981	NM_001201543.2(FAM161A):c.58A>G (p.Asn20Asp)	LOC129933843, FAM161A (N20D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005295	NM_001201543.2(FAM161A):c.172G>C (p.Ala58Pro)	FAM161A, LOC129933843 (A58P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1996875	NM_001201543.2(FAM161A):c.144C>T (p.Asp48=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1960239	NM_001201543.2(FAM161A):c.178G>T (p.Ala60Ser)	FAM161A, LOC129933843 (A60S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1948982	NM_001201543.2(FAM161A):c.72A>C (p.Gly24=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914594	NM_001201543.2(FAM161A):c.177G>T (p.Gly59=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1665863	NM_001201543.2(FAM161A):c.183+8T>C	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1657619	NM_001201543.2(FAM161A):c.177G>C (p.Gly59=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1652332	NM_001201543.2(FAM161A):c.171C>A (p.Pro57=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1612516	NM_001201543.2(FAM161A):c.105C>G (p.Pro35=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1577984	NM_001201543.2(FAM161A):c.114C>T (p.Ala38=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549655	NM_001201543.2(FAM161A):c.75G>T (p.Ala25=)	LOC129933843, FAM161A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1542924	NM_001201543.2(FAM161A):c.87G>A (p.Gln29=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533698	NM_001201543.2(FAM161A):c.153G>A (p.Glu51=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1533510	NM_001201543.2(FAM161A):c.78G>A (p.Arg26=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1532122	NM_001201543.2(FAM161A):c.120G>T (p.Ala40=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486076	NM_001201543.2(FAM161A):c.163G>A (p.Ala55Thr)	FAM161A, LOC129933843 (A55T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1425683	NM_001201543.2(FAM161A):c.119del (p.Ala40fs)	FAM161A, LOC129933843 (A40fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1401048	NM_001201543.2(FAM161A):c.168G>T (p.Gln56His)	FAM161A, LOC129933843 (Q56H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1382697	NM_001201543.2(FAM161A):c.102C>A (p.Asp34Glu)	FAM161A, LOC129933843 (D34E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1379253	NM_001201543.2(FAM161A):c.112G>T (p.Ala38Ser)	FAM161A, LOC129933843 (A38S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1372220	NM_001201543.2(FAM161A):c.77G>A (p.Arg26Gln)	FAM161A, LOC129933843 (R26Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367787	NM_001201543.2(FAM161A):c.109A>G (p.Lys37Glu)	FAM161A, LOC129933843 (K37E)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1358809	NM_001201543.2(FAM161A):c.91G>A (p.Glu31Lys)	FAM161A, LOC129933843 (E31K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1347429	NM_001201543.2(FAM161A):c.170C>T (p.Pro57Leu)	FAM161A, LOC129933843 (P57L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1141387	NM_001201543.2(FAM161A):c.120G>A (p.Ala40=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1122444	NM_001201543.2(FAM161A):c.108A>G (p.Leu36=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1106818	NM_001201543.2(FAM161A):c.183+7C>A	FAM161A, LOC129933843	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1094852	NM_001201543.2(FAM161A):c.171C>T (p.Pro57=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1085361	NM_001201543.2(FAM161A):c.66C>T (p.Ile22=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1075859	NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)	FAM161A, LOC129933843 (G24*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 28 +2 more	GPathogenic/Likely pathogenic
Select item 1014571	NM_001201543.2(FAM161A):c.55G>A (p.Val19Ile)	FAM161A, LOC129933843 (V19I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1014280	NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val)	FAM161A, LOC129933843 (A41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 991639	NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly)	FAM161A, LOC129933843 (E50G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 991635	NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys)	FAM161A (F355C)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991634	NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val)	FAM161A (G366V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991312	NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala)	FAM161A (E413A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991307	NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys)	FAM161A (E546K +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 991304	NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His)	FAM161A (D638H +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 28	GUncertain significance
Select item 987159	NM_001201543.2(FAM161A):c.1460del (p.Arg487fs)	FAM161A (R487fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 986884	NM_001201543.2(FAM161A):c.1294G>T (p.Glu432Ter)	FAM161A (E432*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 968278	NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del)	FAM161A, LOC129933843 (E52del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 962452	NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg)	FAM161A, LOC129933843 (Q29R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 955080	NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr)	FAM161A, LOC129933843 (A28T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 935957	NM_001201543.2(FAM161A):c.183G>A (p.Ser61=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	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 866876	NM_001201543.2(FAM161A):c.139G>C (p.Glu47Gln)	FAM161A, LOC129933843 (E47Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GUncertain significance
Select item 854864	NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu)	FAM161A, LOC129933843 (S61L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 798570	NM_001201543.2(FAM161A):c.177G>A (p.Gly59=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 796663	NM_001201543.2(FAM161A):c.75G>A (p.Ala25=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 774286	NM_001201543.2(FAM161A):c.165= (p.Ala55=)	FAM161A, LOC129933843	Variation (no sequence alteration +1 more)	not provided	GBenign
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 193466	NM_001201543.2(FAM161A):c.165T>G (p.Ala55=)	FAM161A, LOC129933843	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 28 +3 more	GBenign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 93