ClinVar for Gene (Select 8842) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3337982	NM_006017.3(PROM1):c.914dup (p.Leu306fs)	PROM1 (L297fs +1 more)	Duplication (frameshift variant)	Cone-rod dystrophy 12	GPathogenic
Select item 3310303	NM_006017.3(PROM1):c.367A>T (p.Met123Leu)	PROM1 (M114L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310301	NM_006017.3(PROM1):c.1111G>A (p.Val371Ile)	PROM1 (V362I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310300	NM_006017.3(PROM1):c.1132G>A (p.Val378Ile)	PROM1 (V378I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3310299	NM_006017.3(PROM1):c.1675G>A (p.Val559Ile)	PROM1 (V559I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3310298	NM_006017.3(PROM1):c.459C>G (p.Phe153Leu)	PROM1 (F144L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251979	NM_006017.3(PROM1):c.1984-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Stargardt disease 4 +2 more	GLikely pathogenic
Select item 3246778	NC_000004.11:g.(?_15972690)_(16228080_?)del	PROM1, TAPT1	Deletion	not provided	GPathogenic
Select item 3246745	NC_000004.11:g.(?_16077290)_(16077529_?)dup	PROM1	Duplication	not provided	GUncertain significance
Select item 3246744	NC_000004.11:g.(?_15980998)_(15982180_?)del	PROM1	Deletion	not provided	GUncertain significance
Select item 3219027	NM_006017.3(PROM1):c.817A>G (p.Met273Val)	PROM1 (M264V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3219026	NM_006017.3(PROM1):c.638A>G (p.Lys213Arg)	PROM1 (K204R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219025	NM_006017.3(PROM1):c.2294T>C (p.Val765Ala)	PROM1 (V756A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219024	NM_006017.3(PROM1):c.2018A>T (p.Asp673Val)	PROM1 (D664V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219022	NM_006017.3(PROM1):c.1696A>C (p.Asn566His)	PROM1 (N557H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3219021	NM_006017.3(PROM1):c.1499T>C (p.Ile500Thr)	PROM1 (I500T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066383	NM_006017.3(PROM1):c.509+1G>A	PROM1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 41	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3041291	NM_006017.3(PROM1):c.1767+6T>G	PROM1	Single nucleotide variant (intron variant)	PROM1-related disorder	GLikely benign
Select item 3027646	NM_006017.3(PROM1):c.631-2A>C	PROM1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3027645	NM_006017.3(PROM1):c.676G>A (p.Ala226Thr)	PROM1 (A217T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027644	NM_006017.3(PROM1):c.718G>T (p.Gly240Ter)	PROM1 (G231* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GUncertain significance
Select item 3027643	NM_006017.3(PROM1):c.719G>T (p.Gly240Val)	PROM1 (G231V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027642	NM_006017.3(PROM1):c.910G>A (p.Asp304Asn)	PROM1 (D295N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027641	NM_006017.3(PROM1):c.1151G>A (p.Arg384Lys)	PROM1 (R375K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027640	NM_006017.3(PROM1):c.1215A>G (p.Ile405Met)	PROM1 (I396M +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027639	NM_006017.3(PROM1):c.1259T>C (p.Ile420Thr)	PROM1 (I411T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027638	NM_006017.3(PROM1):c.1363G>C (p.Gly455Arg)	PROM1 (G446R +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027637	NM_006017.3(PROM1):c.1407G>T (p.Pro469=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027636	NM_006017.3(PROM1):c.1438G>A (p.Gly480Ser)	PROM1 (G471S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027635	NM_006017.3(PROM1):c.1545C>T (p.Ile515=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027634	NM_006017.3(PROM1):c.1659G>A (p.Lys553=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3027633	NM_006017.3(PROM1):c.1745G>T (p.Ser582Ile)	PROM1 (S573I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027632	NM_006017.3(PROM1):c.1926del (p.Ala643fs)	PROM1 (A634fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3027631	NM_006017.3(PROM1):c.2357A>G (p.Tyr786Cys)	PROM1 (Y777C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027630	NM_006017.3(PROM1):c.2464A>G (p.Met822Val)	PROM1 (M813V +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027629	NM_006017.3(PROM1):c.2547T>A (p.Asp849Glu)	PROM1 (D840E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	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 3008668	NM_006017.3(PROM1):c.1142-14A>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 3006551	NM_006017.3(PROM1):c.277-19C>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005570	NM_006017.3(PROM1):c.1911+18A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003627	NM_006017.3(PROM1):c.2042A>G (p.His681Arg)	PROM1 (H672R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003528	NM_006017.3(PROM1):c.813G>A (p.Glu271=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002987	NM_006017.3(PROM1):c.554C>T (p.Thr185Ile)	PROM1 (T185I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2998906	NM_006017.3(PROM1):c.1767+3A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997031	NM_006017.3(PROM1):c.768T>C (p.Ile256=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994737	NM_006017.3(PROM1):c.42C>G (p.Cys14Trp)	PROM1 (C14W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994093	NM_006017.3(PROM1):c.220+20A>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993155	NM_006017.3(PROM1):c.1966G>A (p.Ala656Thr)	PROM1 (A647T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990694	NM_006017.3(PROM1):c.2315C>T (p.Ala772Val)	PROM1 (A772V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990660	NM_006017.3(PROM1):c.16G>A (p.Gly6Ser)	PROM1 (G6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989205	NM_006017.3(PROM1):c.2281-6C>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988143	NM_006017.3(PROM1):c.1273C>T (p.Pro425Ser)	PROM1 (P425S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983121	NM_006017.3(PROM1):c.206G>A (p.Arg69His)	PROM1 (R69H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982337	NM_006017.3(PROM1):c.1440C>T (p.Gly480=)	PROM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2982240	NM_006017.3(PROM1):c.1415G>A (p.Arg472Gln)	PROM1 (R463Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980203	NM_006017.3(PROM1):c.2076+13G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978346	NM_006017.3(PROM1):c.1838C>T (p.Ala613Val)	PROM1 (A613V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977228	NM_006017.3(PROM1):c.1572A>C (p.Leu524Phe)	PROM1 (L524F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973605	NM_006017.3(PROM1):c.2374-8T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969199	NM_006017.3(PROM1):c.2582+16G>A	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968331	NM_006017.3(PROM1):c.2299T>A (p.Ser767Thr)	PROM1 (S758T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968307	NM_006017.3(PROM1):c.1638A>G (p.Leu546=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965908	NM_006017.3(PROM1):c.1108A>G (p.Arg370Gly)	PROM1 (R370G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964891	NM_006017.3(PROM1):c.2490-12dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 2963293	NM_006017.3(PROM1):c.671A>G (p.Asp224Gly)	PROM1 (D215G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962404	NM_006017.3(PROM1):c.59G>T (p.Gly20Val)	PROM1 (G20V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956317	NM_006017.3(PROM1):c.2583-10dup	PROM1	Duplication (intron variant)	not provided	GBenign
Select item 2920640	NM_006017.3(PROM1):c.1883_1884del (p.Arg628fs)	PROM1 (R619fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 41	GLikely pathogenic
Select item 2920639	NM_006017.3(PROM1):c.1853T>G (p.Leu618Arg)	PROM1 (L618R +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely pathogenic
Select item 2920638	NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter)	PROM1 (Y570* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 2920637	NM_006017.3(PROM1):c.1975_1978del (p.Asn659fs)	PROM1 (N650fs +1 more)	Deletion (frameshift variant)	Retinal macular dystrophy type 2	GLikely pathogenic
Select item 2916240	NM_006017.3(PROM1):c.1806G>A (p.Lys602=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2911211	NM_006017.3(PROM1):c.1388A>G (p.Tyr463Cys)	PROM1 (Y454C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910182	NM_006017.3(PROM1):c.1551A>G (p.Glu517=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875796	NM_006017.3(PROM1):c.1599A>C (p.Leu533Phe)	PROM1 (L524F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872332	NM_006017.3(PROM1):c.2077-521A>T	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870795	NM_006017.3(PROM1):c.1002+12T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2864942	NM_006017.3(PROM1):c.1984-8T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858369	NM_006017.3(PROM1):c.695-13T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858339	NM_006017.3(PROM1):c.241C>T (p.Gln81Ter)	PROM1 (Q81*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2855872	NM_006017.3(PROM1):c.1695A>C (p.Lys565Asn)	PROM1 (K565N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852837	NM_006017.3(PROM1):c.1142G>T (p.Gly381Val)	PROM1 (G372V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838257	NM_006017.3(PROM1):c.2280+4A>T	PROM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2837501	NM_006017.3(PROM1):c.1260C>T (p.Ile420=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831727	NM_006017.3(PROM1):c.1989A>G (p.Pro663=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825263	NM_006017.3(PROM1):c.663T>C (p.Thr221=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2819310	NM_006017.3(PROM1):c.1744del (p.Ser582fs)	PROM1 (S573fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2816469	NM_006017.3(PROM1):c.1116A>G (p.Gln372=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812709	NM_006017.3(PROM1):c.1003-126_1008del	PROM1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2811589	NM_006017.3(PROM1):c.1820T>A (p.Ile607Asn)	PROM1 (I598N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810633	NM_006017.3(PROM1):c.1877T>G (p.Ile626Arg)	PROM1 (I617R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808275	NM_006017.3(PROM1):c.510-20CT[2]	PROM1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2806713	NM_006017.3(PROM1):c.1444T>G (p.Phe482Val)	PROM1 (F473V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805213	NM_006017.3(PROM1):c.2167G>T (p.Ala723Ser)	PROM1 (A723S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799448	NM_006017.3(PROM1):c.1078-20T>C	PROM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798809	NM_006017.3(PROM1):c.789C>A (p.Ile263=)	PROM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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