Related gene-specific medical variations for Gene (Select 94137) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392511	NM_178857.6(RP1L1):c.1314_1316dup (p.Gly439_His440insGly)	RP1L1	Duplication	Occult macular dystrophy +1 more	GUncertain significance
Select item 3383100	NM_178857.6(RP1L1):c.4037_4039del (p.Gly1346del)	RP1L1 (G1346del)	Deletion (inframe_deletion)	Occult macular dystrophy	GUncertain significance
Select item 3360715	NM_178857.6(RP1L1):c.3979_4026del (p.Thr1327_Lys1342del)	RP1L1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3360456	NM_178857.6(RP1L1):c.4928T>C (p.Leu1643Pro)	RP1L1 (L1643P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245617	NC_000008.10:g.(?_10480083)_(10480711_?)del	RP1L1	Deletion	not provided	GUncertain significance
Select item 2689882	NM_178857.6(RP1L1):c.539C>T (p.Ala180Val)	RP1L1 (A180V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689881	NM_178857.6(RP1L1):c.5015C>T (p.Pro1672Leu)	RP1L1 (P1672L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435467	NM_178857.6(RP1L1):c.5293G>A (p.Gly1765Arg)	RP1L1 (G1765R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435466	NM_178857.6(RP1L1):c.1069C>A (p.Pro357Thr)	RP1L1 (P357T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435465	NM_178857.6(RP1L1):c.1204G>A (p.Gly402Arg)	RP1L1 (G402R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432983	NM_178857.6(RP1L1):c.2077C>T (p.Arg693Ter)	RP1L1 (R693*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2432977	NM_178857.6(RP1L1):c.4403dup (p.Ser1469fs)	RP1L1 (S1469fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1676328	NM_178857.6(RP1L1):c.6476C>T (p.Pro2159Leu)	RP1L1 (P2159L)	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 1340966	GRCh37/hg19 8p23.1(chr8:10450423-10506235)x1	RP1L1	Copy number loss	not provided	GUncertain significance
Select item 1325012	NM_178857.6(RP1L1):c.3509C>A (p.Ser1170Ter)	RP1L1 (S1170*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 996800	NM_178857.6(RP1L1):c.2107C>T (p.Arg703Ter)	RP1L1 (R703*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987300	NM_178857.6(RP1L1):c.1122G>A (p.Trp374Ter)	RP1L1 (W374*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 931528	NM_178857.6(RP1L1):c.3203G>A (p.Cys1068Tyr)	RP1L1 (C1068Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 931164	NM_178857.6(RP1L1):c.2720C>T (p.Ala907Val)	RP1L1 (A907V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 931157	NM_178857.6(RP1L1):c.5929G>C (p.Val1977Leu)	RP1L1 (V1977L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88	GUncertain significance
Select item 870144	NM_178857.6(RP1L1):c.3971_3972insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1324_Thr1325insAspTer)	RP1L1	Insertion (nonsense +1 more)	Epidermolysis bullosa simplex with nail dystrophy	GUncertain significance
Select item 867190	NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser)	RP1L1 (G319S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867179	NM_178857.6(RP1L1):c.6856G>C (p.Asp2286His)	RP1L1 (D2286H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867033	NM_178857.6(RP1L1):c.3695T>G (p.Leu1232Arg)	RP1L1 (L1232R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867007	NM_178857.6(RP1L1):c.3592T>G (p.Ser1198Ala)	RP1L1 (S1198A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866989	NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter)	RP1L1 (S827*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866832	NM_178857.6(RP1L1):c.3980C>A (p.Thr1327Lys)	RP1L1 (T1327K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866831	NM_178857.6(RP1L1):c.2005C>A (p.His669Asn)	RP1L1 (H669N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866684	NM_178857.6(RP1L1):c.831del (p.Arg277fs)	RP1L1 (R277fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866341	NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys)	RP1L1 (R342K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866287	NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg)	RP1L1 (P11R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866221	NM_178857.6(RP1L1):c.424TCC[4] (p.Ser144dup)	RP1L1	Microsatellite (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 866195	NM_178857.6(RP1L1):c.4342G>A (p.Glu1448Lys)	RP1L1 (E1448K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866176	NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs)	RP1L1 (Q685fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866154	NM_178857.6(RP1L1):c.3642C>A (p.Ser1214Arg)	RP1L1 (S1214R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865995	NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)	RP1L1 (R397*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 865873	NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe)	RP1L1 (C617F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 810250	NM_178857.6(RP1L1):c.5223C>T (p.Asp1741=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 493473	NM_178857.6(RP1L1):c.1106G>T (p.Trp369Leu)	RP1L1 (W369L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 493470	NM_178857.6(RP1L1):c.3779C>G (p.Thr1260Ser)	RP1L1 (T1260S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 226189	GRCh37/hg19 8p23.1(chr8:10447116-10504819)	RP1L1	Copy number loss	Abnormal esophagus morphology	GLikely benign

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Links from Gene

Items: 41