Related gene-specific medical variations for Gene (Select 8842) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362528	NM_006017.3(PROM1):c.2366del (p.Asp789fs)	PROM1 (D780fs +1 more)	Deletion (frameshift variant)	Retinal macular dystrophy type 2	GLikely pathogenic
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 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 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 2689829	NM_006017.3(PROM1):c.2231G>C (p.Arg744Thr)	PROM1 (R735T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432852	NM_006017.3(PROM1):c.2212-1G>A	PROM1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 987418	NM_006017.3(PROM1):c.199C>T (p.Gln67Ter)	PROM1 (Q67*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 980668	GRCh37/hg19 4p15.32(chr4:16042466-16135616)x1	PROM1	Copy number loss	not provided	GUncertain significance
Select item 931849	NM_006017.3(PROM1):c.2540A>G (p.His847Arg)	PROM1 (H847R +1 more)	Single nucleotide variant (missense variant +1 more)	Cone-rod dystrophy 12	GUncertain significance
Select item 931502	NM_006017.3(PROM1):c.11T>C (p.Val4Ala)	PROM1 (V4A)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 12	GLikely benign
Select item 867154	NM_006017.3(PROM1):c.1682+1G>T	PROM1	Single nucleotide variant (splice donor 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
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 866814	NM_006017.3(PROM1):c.77_78del (p.Thr26fs)	PROM1 (T26fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
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 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 865842	NM_006017.3(PROM1):c.1002+6C>T	PROM1	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 813204	NM_006017.3(PROM1):c.1767+4A>G	PROM1	Single nucleotide variant (intron variant)	Isolated macular dystrophy	GPathogenic
Select item 375233	NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del	PROM1	Deletion	Retinal dystrophy	GLikely pathogenic

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Links from Gene

Items: 21