"Blueprint Genetics"[submitter] AND "PROM1"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867032	NM_006017.3(PROM1):c.2490-2A>G	PROM1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 866234	NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)	PROM1 (A816P +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 41 +5 more	GUncertain significance
Select item 866685	NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe)	PROM1 (L796F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866745	NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe)	PROM1 (L791F +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
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 865780	NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu)	PROM1 (S758L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866816	NM_006017.3(PROM1):c.2131-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 636223	NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)	PROM1 (R704C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 190373	NM_006017.3(PROM1):c.2077-521A>G	PROM1	Single nucleotide variant (intron variant)	Cone-rod dystrophy 2 +1 more	GPathogenic/Likely pathogenic
Select item 865864	NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser)	PROM1 (A674S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866225	NM_006017.3(PROM1):c.1768-4G>T	PROM1	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 866977	NM_006017.3(PROM1):c.1697dup (p.Asn566fs)	PROM1 (N557fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 867154	NM_006017.3(PROM1):c.1682+1G>T	PROM1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866155	NM_006017.3(PROM1):c.1579-2A>C	PROM1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866902	NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly)	PROM1 (R517G +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 100577	NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)	PROM1 (Y519* +1 more)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 12 +2 more	GPathogenic
Select item 866793	NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter)	PROM1 (R463* +1 more)	Single nucleotide variant (nonsense)	not provided +1 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 866784	NM_006017.3(PROM1):c.1238T>A (p.Val413Asp)	PROM1 (V404D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 500442	NM_006017.3(PROM1):c.1234del (p.Tyr412fs)	PROM1 (Y403fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 425332	NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis)	PROM1	Deletion (inframe_indel)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 809626	NM_006017.3(PROM1):c.1142-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 866131	NM_006017.3(PROM1):c.1139C>T (p.Ala380Val)	PROM1 (A371V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5610	NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)	PROM1 (R373C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +6 more	GPathogenic
Select item 865842	NM_006017.3(PROM1):c.1002+6C>T	PROM1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 866797	NM_006017.3(PROM1):c.879C>A (p.Ser293Arg)	PROM1 (S284R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 802056	NM_006017.3(PROM1):c.784+1G>A	PROM1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 41 +3 more	GPathogenic/Likely pathogenic
Select item 866178	NM_006017.3(PROM1):c.695-6A>G	PROM1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 836421	NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter)	PROM1 (Y214* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 636064	NM_006017.3(PROM1):c.630+2T>A	PROM1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
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 867002	NM_006017.3(PROM1):c.562A>G (p.Lys188Glu)	PROM1 (K188E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860340	NM_006017.3(PROM1):c.303+1G>A	PROM1	Single nucleotide variant (intron variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866814	NM_006017.3(PROM1):c.77_78del (p.Thr26fs)	PROM1 (T26fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867048	NM_006017.3(PROM1):c.53T>C (p.Phe18Ser)	PROM1 (F18S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 36