ClinVar for MedGen (Select 383126) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1495448	NM_006017.3(PROM1):c.1450A>G (p.Met484Val)	PROM1 (M484V +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 1333451	NM_006017.3(PROM1):c.276+2T>C	PROM1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 41	GLikely pathogenic
Select item 1333399	NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter)	PROM1 (E728* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 41	GLikely pathogenic
Select item 1288875	NM_006017.3(PROM1):c.2582+43C>T	PROM1	Single nucleotide variant (intron variant)	Stargardt disease 4 +4 more	GBenign
Select item 1261435	NM_006017.3(PROM1):c.1003-35A>C	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 12 +4 more	GBenign
Select item 1213882	NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter)	PROM1 (Y643* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 965934	NM_006017.3(PROM1):c.2281-2A>G	PROM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 965933	NM_006017.3(PROM1):c.1682+3A>G	PROM1	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 936195	NM_006017.3(PROM1):c.1500del (p.Ile500fs)	PROM1 (I491fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 866133	NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	PROM1 (D767V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 809626	NM_006017.3(PROM1):c.1142-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Cone-rod dystrophy 12 +5 more	GPathogenic/Likely pathogenic
Select item 802057	NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)	PROM1 (Q209* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 802056	NM_006017.3(PROM1):c.784+1G>A	PROM1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 802055	NM_006017.3(PROM1):c.869del (p.Ser290fs)	PROM1 (S281fs +1 more)	Deletion (frameshift variant)	Cone-rod dystrophy +2 more	GPathogenic
Select item 802054	NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)	PROM1 (I594L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 802053	NM_006017.3(PROM1):c.1984-1G>T	PROM1	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 694038	NM_006017.3(PROM1):c.139del (p.His47fs)	PROM1 (H47fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 634483	NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter)	PROM1 (R684* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 41 +2 more	GPathogenic
Select item 623211	NM_006017.3(PROM1):c.1301+2T>C	PROM1	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 438214	NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)	PROM1 (R146* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 41 +1 more	GPathogenic
Select item 425331	NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)	PROM1 (S649L +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +5 more	GConflicting classifications of pathogenicity
Select item 402237	NM_006017.3(PROM1):c.622del (p.Thr208fs)	PROM1 (T208fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	PROM1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 348014	NM_006017.3(PROM1):c.-127A>G	PROM1	Single nucleotide variant (5 prime UTR variant)	Retinal macular dystrophy type 2 +4 more	GUncertain significance
Select item 348005	NM_006017.3(PROM1):c.631-14T>C	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +5 more	GBenign/Likely benign
Select item 259906	NM_006017.3(PROM1):c.303+6G>A	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +6 more	GBenign
Select item 236524	NM_006017.3(PROM1):c.1632G>T (p.Gly544=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 41 +4 more	GUncertain significance
Select item 208605	NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs)	PROM1 (I384fs +1 more)	Microsatellite (frameshift variant)	Retinitis pigmentosa 41 +1 more	GPathogenic
Select item 194072	NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	PROM1 (V449M +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +5 more	GConflicting classifications of pathogenicity
Select item 191189	NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)	PROM1 (R202G +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +5 more	GConflicting classifications of pathogenicity
Select item 95334	NM_006017.3(PROM1):c.2374-6T>C	PROM1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 95330	NM_006017.3(PROM1):c.2281-6C>G	PROM1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 5610	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1 (R373C +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 5609	NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter)	PROM1 (Q576* +1 more)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 5608	NM_006017.3(PROM1):c.1841del (p.Gly614fs)	PROM1 (G614fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 41	GPathogenic

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Items: 38