ClinVar (all) for Orgtrack (Select 506264) - ClinVar - NCBI

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

Links from Orgtrack

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1175306	NM_000322.5(PRPH2):c.1009G>A (p.Ala337Thr)	PRPH2 (A337T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175305	NM_000322.5(PRPH2):c.1005G>A (p.Glu335=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1175304	NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly)	PRPH2 (W316G)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175303	NM_000322.5(PRPH2):c.945del (p.Trp316fs)	PRPH2, UBR2 (W316fs)	Deletion (frameshift variant)	Multifocal pattern dystrophy simulating fundus flavimaculatus	GPathogenic
Select item 1175302	NM_000322.5(PRPH2):c.774C>G (p.Tyr258Ter)	PRPH2 (Y258*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 1175301	NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp)	PRPH2 (A253D)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175300	NM_000322.5(PRPH2):c.754G>C (p.Ala252Pro)	PRPH2 (A252P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175299	NM_000322.5(PRPH2):c.749_769delinsCATGA (p.Cys250_Tyr257delinsSerTer)	PRPH2	Indel (nonsense)	not provided	GPathogenic
Select item 1175298	NM_000322.5(PRPH2):c.749G>A (p.Cys250Tyr)	PRPH2 (C250Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1175297	NM_000322.5(PRPH2):c.748T>C (p.Cys250Arg)	PRPH2 (C250R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175296	NM_000322.5(PRPH2):c.748T>G (p.Cys250Gly)	PRPH2 (C250G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 1175295	NM_000322.5(PRPH2):c.746del (p.Gly249fs)	PRPH2 (G249fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175294	NM_000322.5(PRPH2):c.643A>C (p.Asn215His)	PRPH2 (N215H)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175293	NM_000322.5(PRPH2):c.643A>T (p.Asn215Tyr)	PRPH2 (N215Y)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175292	NM_000322.5(PRPH2):c.592A>C (p.Ser198Arg)	PRPH2 (S198R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1175291	NM_000322.5(PRPH2):c.586A>T (p.Ile196Phe)	PRPH2 (I196F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175290	NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly)	PRPH2 (R195G)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175289	NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu)	PRPH2 (D194E)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175288	NM_000322.5(PRPH2):c.582-2A>T	PRPH2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1175287	NM_000322.5(PRPH2):c.582-14T>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1175286	NM_000322.5(PRPH2):c.582-58A>C	PRPH2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1175285	NM_000322.5(PRPH2):c.582-67T>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175284	NM_000322.5(PRPH2):c.582-85G>A	PRPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175283	NM_000322.5(PRPH2):c.493T>C (p.Cys165Arg)	PRPH2 (C165R)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175282	NM_000322.5(PRPH2):c.464C>G (p.Thr155Ser)	PRPH2 (T155S)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1175281	NM_000322.5(PRPH2):c.460A>C (p.Lys154Gln)	PRPH2 (K154Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175280	NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu)	PRPH2 (K153E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1175279	NM_000322.5(PRPH2):c.433_434del (p.Asp145fs)	PRPH2 (D145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175278	NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln)	PRPH2 (L308Q)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175277	NM_000322.5(PRPH2):c.914del (p.Gly305fs)	PRPH2 (G305fs)	Deletion (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 1175276	NM_000322.5(PRPH2):c.868_869del (p.Leu290fs)	PRPH2 (L290fs)	Deletion (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 1175275	NM_000322.5(PRPH2):c.863C>A (p.Thr288Lys)	PRPH2 (T288K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175274	NM_000322.5(PRPH2):c.857T>C (p.Leu286Pro)	PRPH2 (L286P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175273	NM_000322.5(PRPH2):c.745G>A (p.Gly249Ser)	PRPH2 (G249S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 7	GUncertain significance
Select item 1175272	NM_000322.5(PRPH2):c.738_741dup (p.Arg248fs)	PRPH2 (R248fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1175271	NM_000322.5(PRPH2):c.738G>C (p.Trp246Cys)	PRPH2 (W246C)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175270	NM_000322.5(PRPH2):c.730_736delinsCAGCTCCTCCAGACGGGTGCACCAGAC (p.Asn244fs)	PRPH2 (N244fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1175269	NM_000322.5(PRPH2):c.711_722del (p.Asp237_Thr240del)	PRPH2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1175268	NM_000322.5(PRPH2):c.690C>G (p.Asn230Lys)	PRPH2 (N230K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1175267	NM_000322.5(PRPH2):c.638G>T (p.Cys213Phe)	PRPH2 (C213F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175266	NM_000322.5(PRPH2):c.633C>G (p.Phe211Leu)	PRPH2 (F211L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1175265	NM_000322.5(PRPH2):c.631_632insA (p.Phe211fs)	PRPH2 (F211fs)	Insertion (frameshift variant)	PRPH2-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1175264	NM_000322.5(PRPH2):c.626del (p.Val209fs)	PRPH2 (V209fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175263	NM_000322.5(PRPH2):c.623_625dup (p.Gly208dup)	PRPH2	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 1175262	NM_000322.5(PRPH2):c.581+4dup	PRPH2	Duplication (intron variant)	not provided	GUncertain significance
Select item 1175261	NM_000322.5(PRPH2):c.581+1G>C	PRPH2	Single nucleotide variant (splice donor variant)	PRPH2-related disorder	GPathogenic
Select item 1175260	NM_000322.5(PRPH2):c.571G>T (p.Glu191Ter)	PRPH2 (E191*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 1175259	NM_000322.5(PRPH2):c.557A>T (p.Asp186Val)	PRPH2 (D186V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1175258	NM_000322.5(PRPH2):c.556G>A (p.Asp186Asn)	PRPH2 (D186N)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175257	NM_000322.5(PRPH2):c.540C>G (p.Ile180Met)	PRPH2 (I180M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175256	NM_000322.5(PRPH2):c.536G>T (p.Trp179Leu)	PRPH2 (W179L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175255	NM_000322.5(PRPH2):c.232_233insT (p.Ala78fs)	PRPH2 (A78fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1175254	NM_000322.5(PRPH2):c.209dup (p.Ser71fs)	PRPH2 (S71fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1175253	NM_000322.5(PRPH2):c.202G>C (p.Gly68Arg)	PRPH2 (G68R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175252	NM_000322.5(PRPH2):c.178del (p.Val60fs)	PRPH2 (V60fs)	Deletion (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 1175251	NM_000322.5(PRPH2):c.148G>C (p.Asp50His)	PRPH2 (D50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175250	NM_000322.5(PRPH2):c.122T>C (p.Leu41Pro)	PRPH2 (L41P)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175249	NM_000322.5(PRPH2):c.116T>C (p.Leu39Pro)	PRPH2 (L39P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175248	NM_000322.5(PRPH2):c.112G>T (p.Gly38Ter)	PRPH2 (G38*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1175247	NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)	PRPH2 (Y141*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 1175246	NM_000322.5(PRPH2):c.415_417del (p.Lys139del)	PRPH2 (K139del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1175245	NM_000322.5(PRPH2):c.409G>A (p.Gly137Ser)	PRPH2 (G137S)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1175244	NM_000322.5(PRPH2):c.382_385dup (p.Thr129fs)	PRPH2 (T129fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1175243	NM_000322.5(PRPH2):c.377T>C (p.Leu126Pro)	PRPH2 (L126P)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175242	NM_000322.5(PRPH2):c.377T>G (p.Leu126Arg)	PRPH2 (L126R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175241	NM_000322.5(PRPH2):c.74_77del (p.Trp25fs)	PRPH2 (W25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175240	NM_000322.5(PRPH2):c.63G>A (p.Trp21Ter)	PRPH2 (W21*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1175239	NM_000322.5(PRPH2):c.40_41insGT (p.Val14fs)	PRPH2 (V14fs)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 1175238	NM_000322.5(PRPH2):c.38G>A (p.Arg13Gln)	PRPH2 (R13Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175237	NM_000322.5(PRPH2):c.4G>T (p.Ala2Ser)	PRPH2 (A2S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175236	NM_000322.5(PRPH2):c.1A>T (p.Met1Leu)	PRPH2 (M1L)	Single nucleotide variant (missense variant +1 more)	PRPH2-related disorder	GPathogenic
Select item 1175235	NC_000006.11:g.42663546_42670306delins(?)	PRPH2	Indel	not provided	GLikely pathogenic
Select item 1175234	NC_000006.11:g.(42672350_42689491)_(42690353_?)del	PRPH2	Deletion	not provided	GPathogenic
Select item 1175233	NM_000322.5(PRPH2):c.847_850del	PRPH2	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 1175232	NM_000322.5(PRPH2):c.829-3_829-1del	PRPH2	Deletion (splice acceptor variant)	not provided	GPathogenic
Select item 1175231	NM_000322.5(PRPH2):c.826G>T (p.Glu276Ter)	PRPH2 (E276*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic
Select item 1175230	NM_000322.5(PRPH2):c.824_828+3delinsCATTTGGGCTCCTCATTTGG	PRPH2	Indel (splice donor variant)	Vitelliform macular dystrophy 3	GPathogenic
Select item 1175229	NM_000322.5(PRPH2):c.668T>A (p.Ile223Asn)	PRPH2 (I223N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175228	NM_000322.5(PRPH2):c.664T>A (p.Cys222Ser)	PRPH2 (C222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175227	NM_000322.5(PRPH2):c.662C>T (p.Pro221Leu)	PRPH2 (P221L)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GPathogenic
Select item 1175226	NM_000322.5(PRPH2):c.660_665del (p.Pro221_Cys222del)	PRPH2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1175225	NM_000322.5(PRPH2):c.658del (p.Arg220fs)	PRPH2 (R220fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175224	NM_000322.5(PRPH2):c.657_662del (p.Arg220_Pro221del)	PRPH2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1175223	NM_000322.5(PRPH2):c.654_655del (p.Pro219fs)	PRPH2 (P219fs)	Deletion (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 1175222	NM_000322.5(PRPH2):c.618_626del (p.Asp207_Val209del)	PRPH2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 1175221	NM_000322.5(PRPH2):c.610_623del (p.Tyr204fs)	PRPH2 (Y204fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1175220	NM_000322.5(PRPH2):c.599T>G (p.Val200Gly)	PRPH2 (V200G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1175219	NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp)	PRPH2 (N199D)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GLikely pathogenic
Select item 1175218	NM_000322.5(PRPH2):c.520T>A (p.Trp174Arg)	PRPH2 (W174R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175217	NM_000322.5(PRPH2):c.516G>T (p.Arg172=)	PRPH2	Single nucleotide variant (synonymous variant)	not provided	GPathogenic
Select item 1175216	NM_000322.5(PRPH2):c.513dup (p.Arg172fs)	PRPH2 (R172fs)	Duplication (frameshift variant)	PRPH2-related disorder	GPathogenic
Select item 1175215	NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu)	PRPH2 (P100L)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GUncertain significance
Select item 1175214	NM_000322.5(PRPH2):c.281G>A (p.Trp94Ter)	PRPH2 (W94*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1175213	NM_000322.5(PRPH2):c.271T>C (p.Tyr91His)	PRPH2 (Y91H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1175212	NM_000322.5(PRPH2):c.265_268delinsAGGGCC (p.Ala89fs)	PRPH2 (A89fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1175211	NM_000322.5(PRPH2):c.253G>A (p.Ala85Thr)	PRPH2 (A85T)	Single nucleotide variant (missense variant)	PRPH2-related disorder	GUncertain significance
Select item 1091067	NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe)	PRPH2 (L261F)	Single nucleotide variant (missense variant)	PRPH2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1076073	NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	PRPH2 (S231*)	Single nucleotide variant (nonsense)	Patterned macular dystrophy 1 +3 more	GPathogenic/Likely pathogenic
Select item 1073211	NM_000322.5(PRPH2):c.647C>G (p.Pro216Arg)	PRPH2 (P216R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1069377	NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)	PRPH2 (W174*)	Single nucleotide variant (nonsense)	PRPH2-related disorder	GPathogenic

<< First< Prev

Page of 10