MERTK[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 873

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152239	GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3	ACOXL, ACOXL-AS1 +154 more	Copy number gain	See cases	GUncertain significance
Select item 152806	GRCh38/hg38 2q13-14.1(chr2:110577566-112331529)x3	ACOXL, ACOXL-AS1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144476	GRCh38/hg38 2q13-14.1(chr2:110611255-112308202)x1	ACOXL, ACOXL-AS1 +51 more	Copy number loss	See cases	GUncertain significance
Select item 154032	GRCh38/hg38 2q13-14.1(chr2:110631042-112354279)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 59323	GRCh38/hg38 2q13-14.1(chr2:110634620-112345017)x3	ACOXL, ACOXL-AS1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 57564	GRCh38/hg38 2q13-14.1(chr2:110638242-112317901)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	GUncertain significance
Select item 223093	NC_000002.12:g.(?_110649261)_(112345017_?)del	ACOXL, ACOXL-AS1 +50 more	Deletion	not provided	GLikely pathogenic
Select item 148494	GRCh38/hg38 2q13-14.1(chr2:110649261-112331529)x1	ACOXL, ACOXL-AS1 +50 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 148389	GRCh38/hg38 2q13-14.1(chr2:110649261-112379067)x3	ACOXL, ACOXL-AS1 +51 more	Copy number gain	See cases	GLikely benign
Select item 59324	GRCh38/hg38 2q13-14.1(chr2:110684353-112308343)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 161046	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 160844	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 151397	GRCh38/hg38 2q13-14.1(chr2:110684553-112344958)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 32080	GRCh38/hg38 2q13-14.1(chr2:110684553-112308202)x1	ACOXL, ACOXL-AS1 +47 more	Copy number loss	See cases	GUncertain significance
Select item 154416	GRCh38/hg38 2q13-14.1(chr2:110684598-112308164)x3	ACOXL, ACOXL-AS1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 438244	Single allele	LOC112806037, LOC129934573 +1 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 893778	NM_006343.3(MERTK):c.-119C>T	MERTK	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 330739	NM_006343.3(MERTK):c.-34G>A	MERTK	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 1481659	NM_006343.3(MERTK):c.5G>T (p.Gly2Val)	MERTK (G2V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090132	NM_006343.3(MERTK):c.10G>A (p.Ala4Thr)	MERTK (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119008	NM_006343.3(MERTK):c.14del (p.Pro5fs)	MERTK (P5fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2118770	NM_006343.3(MERTK):c.14C>G (p.Pro5Arg)	MERTK (P5R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064131	NM_006343.3(MERTK):c.14C>T (p.Pro5Leu)	MERTK (P5L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578710	NM_006343.3(MERTK):c.15G>A (p.Pro5=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 967186	NM_006343.3(MERTK):c.22CTG[5] (p.Leu9_Leu10dup)	MERTK	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 330740	NM_006343.3(MERTK):c.21G>T (p.Pro7=)	MERTK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 893779	NM_006343.3(MERTK):c.27G>A (p.Leu9=)	MERTK	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 1429779	NM_006343.3(MERTK):c.34C>T (p.Leu12Phe)	MERTK (L12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1090268	NM_006343.3(MERTK):c.45C>T (p.Pro15=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1003376	NM_006343.3(MERTK):c.45C>A (p.Pro15=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1333384	NM_006343.3(MERTK):c.56_61+15del	MERTK	Deletion (splice donor variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 1409604	NM_006343.3(MERTK):c.56G>T (p.Arg19Leu)	MERTK (R19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436276	NM_006343.3(MERTK):c.59G>C (p.Arg20Thr)	MERTK (R20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95372	NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)	MERTK (R20S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 37303	NM_006343.3(MERTK):c.61+1G>A	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 865867	NM_006343.3(MERTK):c.61+3G>C	MERTK	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 968147	NM_006343.3(MERTK):c.61+6T>C	MERTK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1659483	NM_006343.3(MERTK):c.61+7G>A	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859362	NM_006343.3(MERTK):c.61+19G>T	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 287486	NM_006343.3(MERTK):c.61+19G>A	MERTK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1612587	NM_006343.3(MERTK):c.62-20T>G	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654345	NM_006343.3(MERTK):c.62-18G>A	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1096205	NM_006343.3(MERTK):c.62-16A>T	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645622	NM_006343.3(MERTK):c.62-12T>C	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006475	NM_006343.3(MERTK):c.62-9G>A	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 636181	NM_006343.2(MERTK):c.62_482dup	MERTK	Duplication	Retinitis pigmentosa	GLikely pathogenic
Select item 2058574	NM_006343.3(MERTK):c.62-3C>T	MERTK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1490779	NM_006343.3(MERTK):c.86C>G (p.Ala29Gly)	MERTK (A29G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2004471	NM_006343.3(MERTK):c.90G>C (p.Lys30Asn)	MERTK (K30N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345259	NM_006343.3(MERTK):c.92C>T (p.Pro31Leu)	MERTK (P31L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 854252	NM_006343.3(MERTK):c.98C>T (p.Pro33Leu)	MERTK (P33L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1125784	NM_006343.3(MERTK):c.99G>A (p.Pro33=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 330741	NM_006343.3(MERTK):c.102A>G (p.Leu34=)	MERTK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 775751	NM_006343.3(MERTK):c.107C>T (p.Pro36Leu)	MERTK (P36L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 858777	NM_006343.3(MERTK):c.108G>A (p.Pro36=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 968807	NM_006343.3(MERTK):c.119C>T (p.Pro40Leu)	MERTK (P40L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 330742	NM_006343.3(MERTK):c.138C>G (p.Asp46Glu)	MERTK (D46E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 941700	NM_006343.3(MERTK):c.146C>T (p.Pro49Leu)	MERTK (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1674171	NM_006343.3(MERTK):c.147G>A (p.Pro49=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075717	NM_006343.3(MERTK):c.154del (p.Ser52fs)	MERTK (S52fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1049956	NM_006343.3(MERTK):c.163C>A (p.His55Asn)	MERTK (H55N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915863	NM_006343.3(MERTK):c.165C>T (p.His55=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808792	NM_006343.3(MERTK):c.166G>A (p.Ala56Thr)	MERTK (A56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466149	NM_006343.3(MERTK):c.170G>A (p.Ser57Asn)	MERTK (S57N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305277	NM_006343.3(MERTK):c.188T>C (p.Leu63Ser)	MERTK (L63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1351655	NM_006343.3(MERTK):c.190A>G (p.Met64Val)	MERTK (M64V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006083	NM_006343.3(MERTK):c.200C>G (p.Pro67Arg)	MERTK (P67R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501979	NM_006343.3(MERTK):c.200C>T (p.Pro67Leu)	MERTK (P67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 970181	NM_006343.3(MERTK):c.202A>G (p.Thr68Ala)	MERTK (T68A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514729	NM_006343.3(MERTK):c.203C>T (p.Thr68Ile)	MERTK (T68I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 849376	NM_006343.3(MERTK):c.207G>C (p.Gln69His)	MERTK (Q69H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 143139	NM_006343.3(MERTK):c.225del (p.Gly76fs)	MERTK (G76fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 773843	NM_006343.3(MERTK):c.231C>T (p.Asn77=)	MERTK	Single nucleotide variant (synonymous variant)	MERTK-related condition +1 more	GBenign/Likely benign
Select item 1378699	NM_006343.3(MERTK):c.232G>A (p.Val78Ile)	MERTK (V78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999773	NM_006343.3(MERTK):c.251C>A (p.Thr84Asn)	MERTK (T84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563040	NM_006343.3(MERTK):c.258C>T (p.Val86=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 935508	NM_006343.3(MERTK):c.259G>C (p.Glu87Gln)	MERTK (E87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114906	NM_006343.3(MERTK):c.263C>G (p.Ser88Ter)	MERTK (S88*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 866432	NM_006343.3(MERTK):c.263C>T (p.Ser88Leu)	MERTK (S88L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1068621	NM_006343.3(MERTK):c.267del (p.Lys89fs)	MERTK (K89fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1502366	NM_006343.3(MERTK):c.268C>T (p.Pro90Ser)	MERTK (P90S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915529	NM_006343.3(MERTK):c.269C>A (p.Pro90His)	MERTK (P90H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195264	NM_006343.3(MERTK):c.275C>T (p.Pro92Leu)	MERTK (P92L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606119	NM_006343.3(MERTK):c.276G>A (p.Pro92=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2115879	NM_006343.3(MERTK):c.280_281del (p.Leu94fs)	MERTK (L94fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1383385	NM_006343.3(MERTK):c.283G>A (p.Ala95Thr)	MERTK (A95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203132	NM_006343.3(MERTK):c.296_297del (p.Thr99fs)	MERTK (T99fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 850484	NM_006343.3(MERTK):c.302G>C (p.Gly101Ala)	MERTK (G101A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377241	NM_006343.3(MERTK):c.304C>T (p.His102Tyr)	MERTK (H102Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1039199	NM_006343.3(MERTK):c.309A>G (p.Ile103Met)	MERTK (I103M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2298639	NM_006343.3(MERTK):c.312A>G (p.Ile104Met)	MERTK (I104M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 191123	NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)	MERTK (K109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1504811	NM_006343.3(MERTK):c.326A>G (p.Lys109Arg)	MERTK (K109R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501468	NM_006343.3(MERTK):c.329G>T (p.Gly110Val)	MERTK (G110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1663094	NM_006343.3(MERTK):c.333C>T (p.Val111=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618713	NM_006343.3(MERTK):c.339T>C (p.Phe113=)	MERTK	Single nucleotide variant (synonymous variant)	MERTK-related condition +1 more	GLikely benign
Select item 3028870	NM_006343.3(MERTK):c.343T>G (p.Cys115Gly)	MERTK (C115G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 636044	NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	MERTK (C115W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1929275	NM_006343.3(MERTK):c.349_352del (p.Ile117fs)	MERTK (I117fs)	Deletion (frameshift variant)	not provided	GPathogenic

<< First< Prev

Page of 9