ClinVar for MedGen (Select 462578) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065494	NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)	MERTK (G743S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 3064130	NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)	MERTK (M730R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 2920631	NM_006343.3(MERTK):c.2402A>G (p.Tyr801Cys)	MERTK (Y801C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 2583166	NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)	MERTK (A725P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 2579252	GRCh38/hg38 2q13(chr2:111940205-112029659)x0	LOC112806037, LOC122817727 +1 more	Copy number loss	Retinitis pigmentosa 38	GPathogenic
Select item 2579237	GRCh38/hg38 2q13(chr2:111993999-111994721)x1	MERTK	Copy number loss	Retinitis pigmentosa 38	GPathogenic
Select item 2579232	GRCh38/hg38 2q13(chr2:111940205-112055854)x1	LOC112806037, LOC122817727 +4 more	Copy number loss	Retinitis pigmentosa 38	GPathogenic
Select item 1698891	NM_006343.3(MERTK):c.634A>C (p.Thr212Pro)	MERTK (T212P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 1691718	NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)	MERTK (Y549*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 1425224	NM_006343.3(MERTK):c.2785_2786dup (p.Ile930fs)	MERTK (I930fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1398836	NM_006343.3(MERTK):c.472G>A (p.Ala158Thr)	MERTK (A158T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38 +1 more	GUncertain significance
Select item 1339812	GRCh37/hg19 2q13(chr2:112658687-112833108)x1	TMEM87B, MERTK	Copy number loss	Retinitis pigmentosa 38	Gnot provided
Select item 1333384	NM_006343.3(MERTK):c.56_61+15del	MERTK	Deletion (splice donor variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 1330299	NM_006343.3(MERTK):c.2190-2A>G	MERTK	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 1321168	NM_006343.3(MERTK):c.1296+28T>G	MERTK	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213858	NM_006343.3(MERTK):c.734C>A (p.Ser245Tyr)	MERTK (S245Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 1213857	NM_006343.3(MERTK):c.518A>G (p.Tyr173Cys)	MERTK (Y173C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 1170219	NM_006343.3(MERTK):c.1451-20G>A	MERTK	Single nucleotide variant (intron variant)	Retinitis pigmentosa 38 +1 more	GBenign
Select item 1169710	NM_006343.3(MERTK):c.1493_1494inv (p.Asn498Ser)	MERTK (N498S)	Inversion (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1144949	NM_006343.3(MERTK):c.669G>A (p.Pro223=)	MERTK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1065760	NM_006343.3(MERTK):c.2190-1G>T	MERTK	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 1065647	NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)	LOC112806037, MERTK (E364*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38 +1 more	GPathogenic
Select item 983473	NM_006343.3(MERTK):c.1843A>T (p.Lys615Ter)	MERTK (K615*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 979013	NM_006343.3(MERTK):c.1335_1336del (p.Ala446fs)	MERTK (A446fs)	Deletion (frameshift variant)	Retinitis pigmentosa 38	GPathogenic
Select item 957448	NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)	MERTK (E434fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 955168	NM_006343.3(MERTK):c.597T>A (p.Phe199Leu)	MERTK (F199L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38 +1 more	GUncertain significance
Select item 935453	NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)	MERTK (S860fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 865869	NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs)	MERTK (L683fs)	Microsatellite (frameshift variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 845892	NM_006343.3(MERTK):c.2211_2214del (p.Cys738fs)	MERTK (C738fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 811947	NM_006343.3(MERTK):c.2165G>A (p.Arg722Gln)	MERTK (R722Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 811909	NM_006343.3(MERTK):c.1450+2T>G	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 811356	NM_006343.3(MERTK):c.2070_2074del (p.Gly691fs)	MERTK (G691fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 811285	NM_006343.3(MERTK):c.2162A>C (p.His721Pro)	MERTK (H721P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 811179	NM_006343.3(MERTK):c.520A>T (p.Ile174Phe)	MERTK (I174F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 808793	NM_006343.3(MERTK):c.1296+1G>A	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 801738	NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)	MERTK (R844C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38 +1 more	GPathogenic
Select item 801737	NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)	MERTK (A768V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 801736	NM_006343.3(MERTK):c.1296+1G>C	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 801735	NM_006343.3(MERTK):c.992_993del (p.Ser331fs)	LOC112806037, MERTK (S331fs)	Deletion (frameshift variant)	MERTK-related disorder +2 more	GPathogenic/Likely pathogenic
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 635477	NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)	MERTK (W231S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 522500	NM_006343.3(MERTK):c.2486+1G>A	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 520426	NM_006343.3(MERTK):c.1296+5G>A	MERTK	Single nucleotide variant (intron variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 439895	NM_006343.3(MERTK):c.1493A>G (p.Asn498Ser)	MERTK (N498S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 437995	NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)	MERTK (R722*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 437469	NM_006343.3(MERTK):c.584-1G>T	MERTK	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 403082	NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser)	MERTK (Y812S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38 +2 more	GConflicting classifications of pathogenicity
Select item 330766	NM_006343.3(MERTK):c.2080-11C>A	MERTK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 330762	NM_006343.3(MERTK):c.1881A>G (p.Ser627=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 330759	NM_006343.3(MERTK):c.1552A>G (p.Ile518Val)	MERTK (I518V)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 330758	NM_006343.3(MERTK):c.1494C>T (p.Asn498=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 330754	NM_006343.3(MERTK):c.1397G>A (p.Arg466Lys)	MERTK (R466K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GBenign
Select item 330749	NM_006343.3(MERTK):c.844G>A (p.Ala282Thr)	MERTK (A282T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 330746	NM_006343.3(MERTK):c.757+13T>C	MERTK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 330745	NM_006343.3(MERTK):c.756A>G (p.Pro252=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 330743	NM_006343.3(MERTK):c.583+10C>T	MERTK	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 287486	NM_006343.3(MERTK):c.61+19G>A	MERTK	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 265244	NM_006343.3(MERTK):c.2214del (p.Cys738fs)	MERTK (C738fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 224739	NM_006343.2:c.-8163_c.1145-1213del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic
Select item 216961	NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	MERTK (L731S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 194960	NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp)	MERTK (R865W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 191125	NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	MERTK (Y754*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 191124	NM_006343.3(MERTK):c.1604+2T>G	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 191123	NM_006343.3(MERTK):c.325A>T (p.Lys109Ter)	MERTK (K109*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 167290	NM_006343.3(MERTK):c.2916G>A (p.Ser972=)	MERTK	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 143140	NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)	MERTK (Q124*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 143138	NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser)	MERTK (G484S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38 +1 more	GConflicting classifications of pathogenicity
Select item 100581	NM_006343.3(MERTK):c.2608G>A (p.Val870Ile)	MERTK (V870I)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 95372	NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)	MERTK (R20S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 95371	NM_006343.3(MERTK):c.353G>A (p.Ser118Asn)	MERTK (S118N)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 95369	NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)	MERTK (A951T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 37305	NM_006343.3(MERTK):c.2323C>T (p.Arg775Ter)	MERTK (R775*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 37304	NC_000002.10:g.112364620_112455677del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic
Select item 37303	NM_006343.3(MERTK):c.61+1G>A	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 37302	NG_011607.1:g.(86577_89228)_(89381_96385)del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic
Select item 5403	NM_006343.3(MERTK):c.2189+1G>T	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38 +4 more	GPathogenic
Select item 5402	NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)	MERTK (R651*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 5401	NM_006343.3(MERTK):c.1605-2A>G	MERTK	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic

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Items: 78