"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PCARE"[gen - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 335581	NM_001029883.3(PCARE):c.*2562G>C	PCARE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335604	NM_001029883.3(PCARE):c.*1425C>T	PCARE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 166758	NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +3 more	GBenign/Likely benign
Select item 335636	NM_001029883.3(PCARE):c.3705G>A (p.Pro1235=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 785849	NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +2 more	GBenign/Likely benign
Select item 283187	NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 193135	NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg)	PCARE (Q1020R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193134	NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys)	PCARE (Q1020K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335642	NM_001029883.3(PCARE):c.3044C>A (p.Ser1015Tyr)	PCARE (S1015Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +5 more	GPathogenic/Likely pathogenic
Select item 335646	NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)	PCARE (E935K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 166760	NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)	PCARE (P867L)	Single nucleotide variant (missense variant)	PCARE-related condition +4 more	GConflicting classifications of pathogenicity
Select item 714938	NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 808719	NM_001029883.3(PCARE):c.2380dup (p.Met794fs)	PCARE (M794fs)	Duplication (frameshift variant)	Retinitis pigmentosa 54 +2 more	GPathogenic/Likely pathogenic
Select item 193146	NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)	PCARE (C688Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 777945	NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr)	PCARE (A648T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GBenign
Select item 498856	NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)	PCARE (V615D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 335654	NM_001029883.3(PCARE):c.1740G>A (p.Thr580=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335656	NM_001029883.3(PCARE):c.1648G>A (p.Glu550Lys)	PCARE (E550K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 899092	NM_001029883.3(PCARE):c.1545A>G (p.Gln515=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 871084	NM_001029883.3(PCARE):c.1541del (p.Pro514fs)	PCARE (P514fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 871085	NM_001029883.3(PCARE):c.1318C>G (p.Pro440Ala)	PCARE (P440A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650786	NM_001029883.3(PCARE):c.1308C>T (p.Ser436=)	PCARE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 335664	NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)	PCARE (P433S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GConflicting classifications of pathogenicity
Select item 811353	NM_001029883.3(PCARE):c.1114G>A (p.Asp372Asn)	PCARE (D372N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1284470	NM_001029883.3(PCARE):c.740T>A (p.Val247Asp)	PCARE (V247D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2650787	NM_001029883.3(PCARE):c.644T>G (p.Leu215Arg)	PCARE (L215R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 898032	NM_001029883.3(PCARE):c.403G>A (p.Glu135Lys)	PCARE (E135K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 808720	NM_001029883.3(PCARE):c.177G>C (p.Glu59Asp)	PCARE (E59D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 285034	NM_001029883.3(PCARE):c.99G>A (p.Gln33=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	GALNT14, GAREM2 +131 more	Copy number gain	not provided	GLikely pathogenic

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Items: 32