"PreventionGenetics, part of Exact Sciences"[submitter] AND "PROM1"[ge - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1166076	NM_006017.3(PROM1):c.2454C>T (p.Tyr818=)	PROM1	Single nucleotide variant (synonymous variant)	PROM1-related disorder +1 more	GBenign/Likely benign
Select item 95333	NM_006017.3(PROM1):c.2374-5dup	PROM1	Duplication (intron variant)	Retinitis Pigmentosa, Recessive +5 more	GBenign/Likely benign
Select item 95334	NM_006017.3(PROM1):c.2374-6T>C	PROM1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 347978	NM_006017.3(PROM1):c.2309C>A (p.Pro770His)	PROM1 (P770H +1 more)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12 +5 more	GConflicting classifications of pathogenicity
Select item 1477094	NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr)	PROM1 (A766T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95330	NM_006017.3(PROM1):c.2281-6C>G	PROM1	Single nucleotide variant (intron variant)	not specified +6 more	GBenign
Select item 802053	NM_006017.3(PROM1):c.1984-1G>T	PROM1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 41 +4 more	GPathogenic
Select item 259905	NM_006017.3(PROM1):c.1983+14G>A	PROM1	Single nucleotide variant (intron variant)	Retinitis pigmentosa +5 more	GBenign
Select item 100578	NM_006017.3(PROM1):c.1768-5C>T	PROM1	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 3041291	NM_006017.3(PROM1):c.1767+6T>G	PROM1	Single nucleotide variant (intron variant)	PROM1-related disorder	GLikely benign
Select item 787025	NM_006017.3(PROM1):c.1751A>G (p.His584Arg)	PROM1 (H584R +1 more)	Single nucleotide variant (missense variant)	Stargardt disease 4 +5 more	GConflicting classifications of pathogenicity
Select item 259903	NM_006017.3(PROM1):c.1454+15CT[2]	PROM1	Microsatellite (intron variant)	not specified +1 more	GBenign
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 372711	NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)	PROM1 (Y443fs +1 more)	Duplication (frameshift variant)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 194072	NM_006017.3(PROM1):c.1345G>A (p.Val449Met)	PROM1 (V449M +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +5 more	GConflicting classifications of pathogenicity
Select item 347993	NM_006017.3(PROM1):c.1344C>T (p.Ile448=)	PROM1	Single nucleotide variant (synonymous variant)	Cone-rod dystrophy 12 +6 more	GConflicting classifications of pathogenicity
Select item 936231	NM_006017.3(PROM1):c.1301+3G>A	PROM1	Single nucleotide variant (intron variant)	PROM1-related disorder +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 1964621	NM_006017.3(PROM1):c.1077+8T>G	PROM1	Single nucleotide variant (intron variant)	PROM1-related disorder +1 more	GLikely benign
Select item 347997	NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)	PROM1 (L321F +1 more)	Single nucleotide variant (missense variant)	Retinal macular dystrophy type 2 +6 more	GConflicting classifications of pathogenicity
Select item 289314	NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)	PROM1 (S290R +1 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 1153729	NM_006017.3(PROM1):c.808T>C (p.Leu270=)	PROM1	Single nucleotide variant (synonymous variant)	PROM1-related disorder +1 more	GLikely benign
Select item 259907	NM_006017.3(PROM1):c.786G>A (p.Ala262=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +6 more	GBenign
Select item 1089343	NM_006017.3(PROM1):c.477A>G (p.Ala159=)	PROM1	Single nucleotide variant (synonymous variant)	PROM1-related disorder +1 more	GLikely 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 95331	NM_006017.3(PROM1):c.228G>A (p.Leu76=)	PROM1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +6 more	GBenign
Select item 259902	NM_006017.3(PROM1):c.129C>T (p.Thr43=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GBenign
Select item 193330	NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)	PROM1 (S19A)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 259904	NM_006017.3(PROM1):c.15C>T (p.Leu5=)	PROM1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +5 more	GBenign
Select item 1463724	NM_006017.3(PROM1):c.9C>T (p.Leu3=)	PROM1	Single nucleotide variant (synonymous variant)	PROM1-related disorder +1 more	GLikely benign

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Items: 30