"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ROM1"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2096363	NM_000327.4(ROM1):c.2dup (p.Met1fs)	ROM1 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1481775	NM_000327.4(ROM1):c.8C>T (p.Pro3Leu)	ROM1 (P3L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611808	NM_000327.4(ROM1):c.9G>T (p.Pro3=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702112	NM_000327.4(ROM1):c.10G>A (p.Val4Met)	ROM1 (V4M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058925	NM_000327.4(ROM1):c.15G>T (p.Leu5Phe)	ROM1 (L5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942158	NM_000327.4(ROM1):c.19del (p.Leu7fs)	ROM1 (L7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1005092	NM_000327.4(ROM1):c.20T>G (p.Leu7Arg)	ROM1 (L7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903390	NM_000327.4(ROM1):c.29C>G (p.Pro10Arg)	ROM1 (P10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145054	NM_000327.4(ROM1):c.30C>T (p.Pro10=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040745	NM_000327.4(ROM1):c.40C>T (p.Arg14Cys)	ROM1 (R14C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2026172	NM_000327.4(ROM1):c.40C>A (p.Arg14Ser)	ROM1 (R14S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1400520	NM_000327.4(ROM1):c.41G>A (p.Arg14His)	ROM1 (R14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016662	NM_000327.4(ROM1):c.43A>G (p.Ile15Val)	ROM1 (I15V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1060154	NM_000327.4(ROM1):c.47_48delinsAA (p.Arg16Gln)	ROM1 (R16Q)	Indel (missense variant)	not provided	GUncertain significance
Select item 193085	NM_000327.4(ROM1):c.47G>A (p.Arg16His)	ROM1 (R16H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2857242	NM_000327.4(ROM1):c.52G>T (p.Ala18Ser)	ROM1 (A18S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1719799	NM_000327.4(ROM1):c.58G>A (p.Gly20Arg)	ROM1 (G20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2818923	NM_000327.4(ROM1):c.64_69del (p.Trp22_Leu23del)	ROM1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1158091	NM_000327.4(ROM1):c.63C>T (p.Leu21=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193087	NM_000327.4(ROM1):c.64T>G (p.Trp22Gly)	ROM1 (W22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305161	NM_000327.4(ROM1):c.70C>T (p.Leu24Phe)	ROM1 (L24F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 193086	NM_000327.4(ROM1):c.81G>T (p.Leu27=)	ROM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1929541	NM_000327.4(ROM1):c.87G>A (p.Ala29=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2091317	NM_000327.4(ROM1):c.92C>G (p.Ala31Gly)	ROM1 (A31G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128377	NM_000327.4(ROM1):c.93T>C (p.Ala31=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1719244	NM_000327.4(ROM1):c.94G>C (p.Gly32Arg)	ROM1 (G32R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 943274	NM_000327.4(ROM1):c.94G>A (p.Gly32Ser)	ROM1 (G32S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 963972	NM_000327.4(ROM1):c.98G>A (p.Gly33Asp)	ROM1 (G33D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1139236	NM_000327.4(ROM1):c.99C>T (p.Gly33=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043729	NM_000327.4(ROM1):c.100G>A (p.Val34Ile)	ROM1 (V34I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1478132	NM_000327.4(ROM1):c.106C>T (p.Leu36Phe)	ROM1 (L36F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1127660	NM_000327.4(ROM1):c.108C>T (p.Leu36=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522554	NM_000327.4(ROM1):c.120del (p.His41fs)	ROM1 (H41fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1975894	NM_000327.4(ROM1):c.137T>A (p.Leu46Gln)	ROM1 (L46Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897593	NM_000327.4(ROM1):c.137T>G (p.Leu46Arg)	ROM1 (L46R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842553	NM_000327.4(ROM1):c.145C>G (p.Leu49Val)	ROM1 (L49V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979093	NM_000327.4(ROM1):c.148G>A (p.Gly50Ser)	ROM1 (G50S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525966	NM_000327.4(ROM1):c.152C>T (p.Thr51Ile)	ROM1 (T51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1106949	NM_000327.4(ROM1):c.153C>T (p.Thr51=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004516	NM_000327.4(ROM1):c.158T>A (p.Leu53Gln)	ROM1 (L53Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119172	NM_000327.4(ROM1):c.160G>A (p.Ala54Thr)	ROM1 (A54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004517	NM_000327.4(ROM1):c.161C>T (p.Ala54Val)	ROM1 (A54V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1130938	NM_000327.4(ROM1):c.162T>A (p.Ala54=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960163	NM_000327.4(ROM1):c.165C>T (p.Pro55=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 877753	NM_000327.4(ROM1):c.167C>G (p.Ser56Cys)	ROM1 (S56C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498297	NM_000327.4(ROM1):c.167C>T (p.Ser56Phe)	ROM1 (S56F)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 846461	NM_000327.4(ROM1):c.178C>A (p.Pro60Thr)	ROM1 (P60T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 632164	NM_000327.4(ROM1):c.180dup (p.Val61fs)	ROM1 (V61fs)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2702261	NM_000327.4(ROM1):c.182T>C (p.Val61Ala)	ROM1 (V61A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492104	NM_000327.4(ROM1):c.190C>T (p.Gln64Ter)	ROM1 (Q64*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2193374	NM_000327.4(ROM1):c.195T>C (p.Ala65=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056306	NM_000327.4(ROM1):c.199C>G (p.Leu67Val)	ROM1 (L67V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360642	NM_000327.4(ROM1):c.206C>G (p.Ala69Gly)	ROM1 (A69G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1056855	NM_000327.4(ROM1):c.206C>T (p.Ala69Val)	ROM1 (A69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507549	NM_000327.4(ROM1):c.210C>T (p.Gly70=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1904379	NM_000327.4(ROM1):c.211G>A (p.Ala71Thr)	ROM1 (A71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963598	NM_000327.4(ROM1):c.212C>T (p.Ala71Val)	ROM1 (A71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 284916	NM_000327.4(ROM1):c.213G>A (p.Ala71=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 287753	NM_000327.4(ROM1):c.223G>A (p.Gly75Ser)	ROM1 (G75S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838021	NM_000327.4(ROM1):c.224G>A (p.Gly75Asp)	ROM1 (G75D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878784	NM_000327.4(ROM1):c.230G>A (p.Gly77Glu)	ROM1 (G77E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 12997	NM_000327.4(ROM1):c.239dup (p.Val81fs)	ROM1 (V81fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1085676	NM_000327.4(ROM1):c.237G>C (p.Val79=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493332	NM_000327.4(ROM1):c.245G>A (p.Gly82Glu)	ROM1 (G82E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349701	NM_000327.4(ROM1):c.252C>G (p.Ser84Arg)	ROM1 (S84R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1036113	NM_000327.4(ROM1):c.253C>T (p.Arg85Trp)	ROM1 (R85W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986882	NM_000327.4(ROM1):c.254G>A (p.Arg85Gln)	ROM1 (R85Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372783	NM_000327.4(ROM1):c.256G>T (p.Ala86Ser)	ROM1 (A86S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1149867	NM_000327.4(ROM1):c.256G>A (p.Ala86Thr)	ROM1 (A86T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1926904	NM_000327.4(ROM1):c.257C>A (p.Ala86Glu)	ROM1 (A86E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004734	NM_000327.4(ROM1):c.260G>T (p.Ser87Ile)	ROM1 (S87I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474716	NM_000327.4(ROM1):c.260G>A (p.Ser87Asn)	ROM1 (S87N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348571	NM_000327.4(ROM1):c.268G>A (p.Ala90Thr)	ROM1 (A90T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92848	NM_000327.4(ROM1):c.269C>T (p.Ala90Val)	ROM1 (A90V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1051225	NM_000327.4(ROM1):c.286T>G (p.Trp96Gly)	ROM1 (W96G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 840242	NM_000327.4(ROM1):c.289C>T (p.Arg97Ter)	ROM1 (R97*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1003813	NM_000327.4(ROM1):c.290G>A (p.Arg97Gln)	ROM1 (R97Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064244	NM_000327.4(ROM1):c.292G>A (p.Gly98Arg)	ROM1 (G98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463622	NM_000327.4(ROM1):c.301G>A (p.Gly101Ser)	ROM1 (G101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1104846	NM_000327.4(ROM1):c.303C>T (p.Gly101=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951751	NM_000327.4(ROM1):c.305C>T (p.Pro102Leu)	ROM1 (P102L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1944457	NM_000327.4(ROM1):c.306G>T (p.Pro102=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1409338	NM_000327.4(ROM1):c.312G>A (p.Leu104=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151189	NM_000327.4(ROM1):c.316G>C (p.Ala106Pro)	ROM1 (A106P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729583	NM_000327.4(ROM1):c.318T>C (p.Ala106=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913403	NM_000327.4(ROM1):c.320del (p.Gly107fs)	ROM1 (G107fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 193088	NM_000327.4(ROM1):c.323C>T (p.Thr108Met)	ROM1 (T108M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 941214	NM_000327.4(ROM1):c.324G>A (p.Thr108=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1391395	NM_000327.4(ROM1):c.325G>C (p.Ala109Pro)	ROM1 (A109P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356498	NM_000327.4(ROM1):c.325G>A (p.Ala109Thr)	ROM1 (A109T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2014227	NM_000327.4(ROM1):c.326C>T (p.Ala109Val)	ROM1 (A109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102407	NM_000327.4(ROM1):c.328G>T (p.Gly110Cys)	ROM1 (G110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 12998	NM_000327.4(ROM1):c.339dup (p.Leu114fs)	ROM1 (L114fs)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1926355	NM_000327.4(ROM1):c.331G>C (p.Gly111Arg)	ROM1 (G111R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 960408	NM_000327.4(ROM1):c.339del (p.Leu114fs)	ROM1 (L114fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 942568	NM_000327.4(ROM1):c.331G>T (p.Gly111Trp)	ROM1 (G111W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2918688	NM_000327.4(ROM1):c.332_338delinsCCCCCCCAGCACCA (p.Gly111fs)	ROM1 (G111fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 1520634	NM_000327.4(ROM1):c.332G>A (p.Gly111Glu)	ROM1 (G111E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1430885	NM_000327.4(ROM1):c.333G>T (p.Gly111=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1126760	NM_000327.4(ROM1):c.333G>C (p.Gly111=)	ROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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