"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PROM1"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1043112	NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly)	PROM1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1398760	NM_006017.3(PROM1):c.2593C>A (p.His865Asn)	PROM1 (H856N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861100	NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter)	PROM1 (Q832* +5 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2956317	NM_006017.3(PROM1):c.2583-10dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 2969199	NM_006017.3(PROM1):c.2582+16G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 900422	NM_006017.3(PROM1):c.2582+9A>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 1669991	NM_006017.3(PROM1):c.2582+8A>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940700	NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile)	PROM1 (T851I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 347971	NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)	PROM1 (T860A +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12 +5 more	GConflicting classifications of pathogenicity
Select item 1018809	NM_006017.3(PROM1):c.2576T>A (p.Met859Lys)	PROM1 (M850K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716810	NM_006017.3(PROM1):c.2575A>G (p.Met859Val)	PROM1 (M850V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2718617	NM_006017.3(PROM1):c.2572G>T (p.Val858Phe)	PROM1 (V849F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1009622	NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys)	PROM1 (Y843C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093173	NM_006017.3(PROM1):c.2553A>G (p.Val851=)	PROM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 347972	NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)	PROM1 (V851I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 2182846	NM_006017.3(PROM1):c.2549A>G (p.His850Arg)	PROM1 (H841R +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1908955	NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn)	PROM1 (D840N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1716391	NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser)	PROM1 (Y837S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3012867	NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala)	PROM1 (G836A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2120262	NM_006017.3(PROM1):c.2534G>T (p.Gly845Val)	PROM1 (G836V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2754747	NM_006017.3(PROM1):c.2531A>G (p.Asn844Ser)	PROM1 (N844S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1026790	NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp)	PROM1 (N832D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1004430	NM_006017.3(PROM1):c.2516T>C (p.Met839Thr)	PROM1 (M830T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1472486	NM_006017.3(PROM1):c.2515A>G (p.Met839Val)	PROM1 (M830V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 624043	NM_006017.3(PROM1):c.2514-4A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1100955	NM_006017.3(PROM1):c.2514-12T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1128733	NM_006017.3(PROM1):c.2513+19A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096897	NM_006017.3(PROM1):c.2513+11T>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2034610	NM_006017.3(PROM1):c.2513+4A>C	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1002266	NM_006017.3(PROM1):c.2513+3A>T	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1721733	NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile)	PROM1 (N829I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2778353	NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr)	PROM1 (I834T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2108405	NM_006017.3(PROM1):c.2500A>G (p.Ile834Val)	PROM1 (I834V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 867032	NM_006017.3(PROM1):c.2490-2A>G	PROM1	Single nucleotide variant (splice acceptor variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1673579	NM_006017.3(PROM1):c.2490-7T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964891	NM_006017.3(PROM1):c.2490-12dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 1571264	NM_006017.3(PROM1):c.2490-11G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1931253	NM_006017.3(PROM1):c.2490-17T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652219	NM_006017.3(PROM1):c.2490-18C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2035568	NM_006017.3(PROM1):c.2490-20C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1896792	NM_006017.3(PROM1):c.2489+20C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639996	NM_006017.3(PROM1):c.2489+19A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007801	NM_006017.3(PROM1):c.2489+18C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1607377	NM_006017.3(PROM1):c.2489+13G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1553123	NM_006017.3(PROM1):c.2489+9G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1083381	NM_006017.3(PROM1):c.2489+7A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096157	NM_006017.3(PROM1):c.2489+1G>A	PROM1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 903034	NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)	PROM1 (D820N +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1108814	NM_006017.3(PROM1):c.2484C>T (p.Tyr828=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114346	NM_006017.3(PROM1):c.2481G>A (p.Val827=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 347974	NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)	PROM1 (V827A +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 866800	NM_006017.3(PROM1):c.2479G>A (p.Val827Met)	PROM1 (V818M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1617338	NM_006017.3(PROM1):c.2478C>T (p.Asp826=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 844238	NM_006017.3(PROM1):c.2472G>A (p.Ser824=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 939778	NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu)	PROM1 (S815L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976014	NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln)	PROM1 (R812Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636063	NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter)	PROM1 (R821* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1474324	NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys)	PROM1 (R811C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1138798	NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly)	PROM1 (R811G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2084640	NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys)	PROM1 (Y819C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166076	NM_006017.3(PROM1):c.2454C>T (p.Tyr818=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2787971	NM_006017.3(PROM1):c.2453A>G (p.Tyr818Cys)	PROM1 (Y818C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560485	NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg)	PROM1 (K817R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866234	NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	PROM1 (A816P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GUncertain significance
Select item 2074277	NM_006017.3(PROM1):c.2436G>A (p.Ala812=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1019160	NM_006017.3(PROM1):c.2435C>T (p.Ala812Val)	PROM1 (A803V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418541	NM_006017.3(PROM1):c.2421G>A (p.Pro807=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1975444	NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser)	PROM1 (P807S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132044	NM_006017.3(PROM1):c.2409del (p.Leu805fs)	PROM1 (L796fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1438454	NM_006017.3(PROM1):c.2408T>C (p.Val803Ala)	PROM1 (V794A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1720960	NM_006017.3(PROM1):c.2407G>T (p.Val803Leu)	PROM1 (V794L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986938	NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser)	PROM1 (A792S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1009447	NM_006017.3(PROM1):c.2401G>A (p.Ala801Thr)	PROM1 (A792T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 848189	NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr)	PROM1 (F796Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1450320	NM_006017.3(PROM1):c.2384G>T (p.Trp795Leu)	PROM1 (W795L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203535	NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg)	PROM1 (W786R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95333	NM_006017.3(PROM1):c.2374-5dup	PROM1	Duplication (intron variant)	Stargardt Disease, Dominant +5 more	GBenign/Likely benign
Select item 2119909	NM_006017.3(PROM1):c.2374-4C>A	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1919823	NM_006017.3(PROM1):c.2374-5C>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548527	NM_006017.3(PROM1):c.2374-6_2374-5insTC	PROM1	Insertion (intron variant)	not provided	GLikely benign
Select item 347975	NM_006017.3(PROM1):c.2374-14dup	PROM1	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +4 more	GConflicting classifications of pathogenicity
Select item 95334	NM_006017.3(PROM1):c.2374-6T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +6 more	GBenign
Select item 2973605	NM_006017.3(PROM1):c.2374-8T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642935	NM_006017.3(PROM1):c.2374-10T>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1559882	NM_006017.3(PROM1):c.2374-13T>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165926	NM_006017.3(PROM1):c.2374-16G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2036899	NM_006017.3(PROM1):c.2374-19_2374-17del	PROM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1404608	NM_006017.3(PROM1):c.2373+5G>T	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 938227	NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs)	PROM1 (I779fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 347977	NM_006017.3(PROM1):c.2364C>T (p.Ile788=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 1166769	NM_006017.3(PROM1):c.2358C>T (p.Tyr786=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2008090	NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr)	PROM1 (C775Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966140	NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu)	PROM1 (D771E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766570	NM_006017.3(PROM1):c.2335G>A (p.Val779Ile)	PROM1 (V770I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073300	NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile)	PROM1 (T777I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075844	NM_006017.3(PROM1):c.2329dup (p.Thr777fs)	PROM1 (T768fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 866133	NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	PROM1 (D767V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 41 +5 more	GConflicting classifications of pathogenicity
Select item 1955631	NM_006017.3(PROM1):c.2325A>G (p.Leu775=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95332	NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr)	PROM1 (A774T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425330	NM_006017.3(PROM1):c.2319C>T (p.Thr773=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity

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