"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248975	NM_001029883.3(PCARE):c.3725del (p.Pro1242fs)	PCARE (P1242fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 851239	NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)	PCARE (P1235L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 335637	NM_001029883.3(PCARE):c.3673_3675dupAGC	PCARE	Microsatellite (splice acceptor variant)	Retinitis Pigmentosa, Recessive +4 more	GBenign/Likely benign
Select item 966368	NM_001029883.3(PCARE):c.3660C>T (p.Gly1220=)	PCARE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 962669	NM_001029883.3(PCARE):c.3589C>T (p.Arg1197Cys)	PCARE (R1197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249423	NM_001029883.3(PCARE):c.3494A>T (p.Asn1165Ile)	PCARE (N1165I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248843	NM_001029883.3(PCARE):c.3128_3129dup (p.Thr1044fs)	PCARE (T1044fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 335642	NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr)	PCARE (S1015Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 812238	NM_001029883.3(PCARE):c.2950C>T (p.Arg984Ter)	PCARE (R984*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 973352	NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter)	PCARE (W941*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 844365	NM_001029883.3(PCARE):c.2813G>A (p.Gly938Asp)	PCARE (G938D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 335648	NM_001029883.3(PCARE):c.2530G>C (p.Ala844Pro)	PCARE (A844P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 714938	NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 3248921	NM_001029883.3(PCARE):c.2479del (p.Leu827fs)	PCARE (L827fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 896341	NM_001029883.3(PCARE):c.2197A>C (p.Lys733Gln)	PCARE (K733Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2823321	NM_001029883.3(PCARE):c.2159G>A (p.Trp720Ter)	PCARE (W720*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 866727	NM_001029883.3(PCARE):c.1709_1728del (p.Gly570fs)	PCARE (G570fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 335656	NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys)	PCARE (E550K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 964339	NM_001029883.3(PCARE):c.1550C>T (p.Ser517Leu)	PCARE (S517L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871084	NM_001029883.3(PCARE):c.1541del (p.Pro514fs)	PCARE (P514fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 866909	NM_001029883.3(PCARE):c.1525del (p.Thr509fs)	PCARE (T509fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3248922	NM_001029883.3(PCARE):c.1185del (p.His395fs)	PCARE (H395fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249656	NM_001029883.3(PCARE):c.1139G>A (p.Trp380Ter)	PCARE (W380*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 950605	NM_001029883.3(PCARE):c.959G>A (p.Arg320His)	PCARE (R320H)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 281380	NM_001029883.3(PCARE):c.958C>T (p.Arg320Cys)	PCARE (R320C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3250195	NM_001029883.3(PCARE):c.930G>C (p.Lys310Asn)	PCARE (K310N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049580	NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)	PCARE (L307*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic
Select item 3249171	NM_001029883.3(PCARE):c.718G>A (p.Gly240Arg)	PCARE (G240R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249474	NM_001029883.3(PCARE):c.689G>A (p.Ser230Asn)	PCARE (S230N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 31