Related gene-specific medical variations for Gene (Select 6102) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3028606	NM_006915.3(RP2):c.28A>T (p.Lys10Ter)	LOC130068202, RP2 (K10*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 2963459	NM_006915.3(RP2):c.51C>G (p.Pro17=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920645	NM_006915.3(RP2):c.623_624dup (p.Ala209fs)	RP2 (A209fs)	Duplication (frameshift variant)	Retinitis pigmentosa 2	GLikely pathogenic
Select item 2880460	NM_006915.3(RP2):c.57C>T (p.Asn19=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806343	NM_006915.3(RP2):c.74A>C (p.Lys25Thr)	LOC130068202, RP2 (K25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748678	NM_006915.3(RP2):c.36C>T (p.Asp12=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735668	NM_006915.3(RP2):c.51C>A (p.Pro17=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728412	NM_006915.3(RP2):c.-1_18del (p.Met1fs)	LOC130068202, RP2 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2607259	NM_006915.3(RP2):c.47G>T (p.Arg16Leu)	LOC130068202, RP2 (R16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2134535	NM_006915.3(RP2):c.4G>T (p.Gly2Cys)	LOC130068202, RP2 (G2C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097576	NM_006915.3(RP2):c.1A>T (p.Met1Leu)	LOC130068202, RP2 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2047326	NM_006915.3(RP2):c.29_41del (p.Lys10fs)	LOC130068202, RP2 (K10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2000303	NM_006915.3(RP2):c.2T>G (p.Met1Arg)	LOC130068202, RP2 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1999458	NM_006915.3(RP2):c.4G>A (p.Gly2Ser)	LOC130068202, RP2 (G2S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939583	NM_006915.3(RP2):c.50C>G (p.Pro17Arg)	LOC130068202, RP2 (P17R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913690	NM_006915.3(RP2):c.48G>A (p.Arg16=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678516	NM_006915.3(RP2):c.28A>G (p.Lys10Glu)	LOC130068202, RP2 (K10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1670238	NM_006915.3(RP2):c.51C>T (p.Pro17=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1502015	NM_006915.3(RP2):c.68G>A (p.Arg23Gln)	LOC130068202, RP2 (R23Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478118	NM_006915.3(RP2):c.71C>T (p.Pro24Leu)	LOC130068202, RP2 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460976	NM_006915.3(RP2):c.67C>T (p.Arg23Trp)	LOC130068202, RP2 (R23W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1457919	NM_006915.3(RP2):c.22A>T (p.Arg8Ter)	LOC130068202, RP2 (R8*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1455481	NM_006915.3(RP2):c.11_12delinsAA (p.Phe4Ter)	LOC130068202, RP2 (F4*)	Indel (nonsense)	not provided	GPathogenic
Select item 1455465	NM_006915.3(RP2):c.1A>G (p.Met1Val)	LOC130068202, RP2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1384049	NM_006915.3(RP2):c.-5_8del (p.Met1fs)	LOC130068202, RP2 (M1fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1375559	NM_006915.3(RP2):c.2T>A (p.Met1Lys)	LOC130068202, RP2 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1355925	NM_006915.3(RP2):c.19_20del (p.Lys7fs)	LOC130068202, RP2 (K7fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1184894	NM_006915.3(RP2):c.838del (p.Val280fs)	RP2 (V280fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1070512	NM_006915.3(RP2):c.58G>T (p.Glu20Ter)	LOC130068202, RP2 (E20*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1038356	NM_006915.3(RP2):c.57C>G (p.Asn19Lys)	LOC130068202, RP2 (N19K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1021801	NM_006915.3(RP2):c.44C>T (p.Ser15Leu)	LOC130068202, RP2 (S15L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 987280	NM_006915.3(RP2):c.769-3C>A	RP2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 914211	NM_006915.3(RP2):c.11T>G (p.Phe4Cys)	LOC130068202, RP2 (F4C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 914210	NM_006915.3(RP2):c.-35A>G	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 867123	NM_006915.3(RP2):c.38A>T (p.Lys13Met)	LOC130068202, RP2 (K13M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867051	NM_006915.3(RP2):c.324C>A (p.Cys108Ter)	RP2 (C108*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 867039	NM_006915.3(RP2):c.178C>T (p.Gln60Ter)	RP2 (Q60*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866868	NM_006915.3(RP2):c.168_178del (p.Val57fs)	RP2 (V57fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866701	NM_006915.3(RP2):c.19A>C (p.Lys7Gln)	LOC130068202, RP2 (K7Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866621	NM_006915.3(RP2):c.400C>T (p.Gln134Ter)	RP2 (Q134*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 866565	NM_006915.3(RP2):c.774_777del (p.Gly259fs)	RP2 (G259fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866512	NM_006915.3(RP2):c.37A>T (p.Lys13Ter)	LOC130068202, RP2 (K13*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866491	NM_006915.3(RP2):c.768+1G>C	RP2	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866340	NM_006915.3(RP2):c.122_128delinsGGA (p.Met41fs)	RP2 (M41fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865895	NM_006915.3(RP2):c.415T>C (p.Ser139Pro)	RP2 (S139P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 813221	NM_006915.3(RP2):c.969+1dup	RP2	Duplication (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 813219	NM_006915.3(RP2):c.40del (p.Glu14fs)	LOC130068202, RP2 (E14fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 813218	NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer)	RP2	Microsatellite (nonsense)	Retinitis pigmentosa	GPathogenic
Select item 812402	NM_006915.3(RP2):c.25_28del (p.Lys10fs)	LOC130068202, RP2 (K10fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 798840	NM_006915.3(RP2):c.72A>C (p.Pro24=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 636099	NM_006915.3(RP2):c.49C>T (p.Pro17Ser)	LOC130068202, RP2 (P17S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 2 +1 more	GUncertain significance
Select item 547076	NM_006915.3(RP2):c.365G>A (p.Cys122Tyr)	RP2 (C122Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 437945	NM_006915.3(RP2):c.43del (p.Ser15fs)	LOC130068202, RP2 (S15fs)	Deletion (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 437942	NM_006915.3(RP2):c.11TCT[1] (p.Phe5del)	LOC130068202, RP2 (F5del)	Microsatellite (inframe_deletion)	Cone-rod dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 418458	NM_006915.3(RP2):c.8G>C (p.Cys3Ser)	LOC130068202, RP2 (C3S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374718	NM_006915.3(RP2):c.50C>T (p.Pro17Leu)	LOC130068202, RP2 (P17L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 368305	NM_006915.3(RP2):c.-26G>T	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 368304	NM_006915.3(RP2):c.-44G>C	LOC130068202, RP2	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 289614	NM_006915.3(RP2):c.30G>A (p.Lys10=)	LOC130068202, RP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 191246	NM_006915.3(RP2):c.2T>C (p.Met1Thr)	LOC130068202, RP2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 10544	NM_006915.3(RP2):c.16_18del (p.Ser6del)	LOC130068202, RP2 (S6del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic

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Links from Gene

Items: 61