Related gene-specific medical variations for Gene (Select 24148) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3219209	NM_012469.4(PRPF6):c.1580G>A (p.Arg527His)	LOC126863090, PRPF6 (R527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062416	GRCh37/hg19 20q13.33(chr20:62622315-62672032)x3	PRPF6	Copy number gain	not specified	GUncertain significance
Select item 3028559	NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter)	LOC126863090, PRPF6 (W543*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3008835	NM_012469.4(PRPF6):c.1524+20C>T	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007381	NM_012469.4(PRPF6):c.1579C>T (p.Arg527Cys)	LOC126863090, PRPF6 (R527C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965168	NM_012469.4(PRPF6):c.1647+15G>A	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2881172	NM_012469.4(PRPF6):c.1647+9G>C	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880606	NM_012469.4(PRPF6):c.1476C>T (p.Thr492=)	LOC126863089, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811169	NM_012469.4(PRPF6):c.71+15G>C	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2808882	NM_012469.4(PRPF6):c.1524+2_1524+4del	LOC126863089, PRPF6	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2118625	NM_012469.4(PRPF6):c.1524+13C>T	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1981134	NM_012469.4(PRPF6):c.1572C>T (p.Ala524=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1965948	NM_012469.4(PRPF6):c.71+18G>A	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1895918	NM_012469.4(PRPF6):c.1524+5G>A	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1659850	NM_012469.4(PRPF6):c.71+15G>T	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1656109	NM_012469.4(PRPF6):c.71+8C>T	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648954	NM_012469.4(PRPF6):c.1596T>C (p.Ile532=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638208	NM_012469.4(PRPF6):c.1611A>G (p.Glu537=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610236	NM_012469.4(PRPF6):c.1647+19C>A	PRPF6, LOC126863090	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1609394	NM_012469.4(PRPF6):c.1525-24_1525-18del	LOC126863090, PRPF6	Deletion (intron variant)	not provided	GLikely benign
Select item 1594360	NM_012469.4(PRPF6):c.1491C>T (p.Asn497=)	LOC126863089, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1560400	NM_012469.4(PRPF6):c.1480C>T (p.Leu494=)	LOC126863089, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556371	NM_012469.4(PRPF6):c.1563C>G (p.Thr521=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552468	NM_012469.4(PRPF6):c.1647+12A>G	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1522538	NM_012469.4(PRPF6):c.1555G>A (p.Val519Met)	LOC126863090, PRPF6 (V519M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1485290	NM_012469.4(PRPF6):c.1465C>T (p.Arg489Ter)	LOC126863089, PRPF6 (R489*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1477541	NM_012469.4(PRPF6):c.1593G>T (p.Gly531=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1466978	NM_012469.4(PRPF6):c.1493G>A (p.Gly498Asp)	LOC126863089, PRPF6 (G498D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1446148	NM_012469.4(PRPF6):c.1625C>T (p.Thr542Ile)	LOC126863090, PRPF6 (T542I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1439235	NM_012469.4(PRPF6):c.1580G>T (p.Arg527Leu)	LOC126863090, PRPF6 (R527L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425292	NM_012469.4(PRPF6):c.71+6_71+7delinsAA	LOC130066413, PRPF6	Indel (intron variant)	not provided	GUncertain significance
Select item 1418132	NM_012469.4(PRPF6):c.1491C>A (p.Asn497Lys)	LOC126863089, PRPF6 (N497K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366412	NM_012469.4(PRPF6):c.1596T>G (p.Ile532Met)	LOC126863090, PRPF6 (I532M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345787	NM_012469.4(PRPF6):c.1573G>A (p.Val525Ile)	LOC126863090, PRPF6 (V525I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1144927	NM_012469.4(PRPF6):c.1584C>T (p.Ala528=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1139113	NM_012469.4(PRPF6):c.1530C>T (p.Ala510=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 1113718	NM_012469.4(PRPF6):c.71+19C>G	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1105203	NM_012469.4(PRPF6):c.1608G>A (p.Glu536=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103142	NM_012469.4(PRPF6):c.1524+8G>A	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1052955	NM_012469.4(PRPF6):c.1484G>A (p.Arg495Gln)	LOC126863089, PRPF6 (R495Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1046956	NM_012469.4(PRPF6):c.1616G>A (p.Arg539Gln)	LOC126863090, PRPF6 (R539Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 961154	NM_012469.4(PRPF6):c.71+7C>T	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 931584	NM_012469.4(PRPF6):c.1451A>C (p.Glu484Ala)	PRPF6 (E484A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 60	GUncertain significance
Select item 930600	NM_012469.4(PRPF6):c.1186+13C>G	PRPF6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 60	GUncertain significance
Select item 930523	NM_012469.4(PRPF6):c.1582G>A (p.Ala528Thr)	LOC126863090, PRPF6 (A528T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 60	GUncertain significance
Select item 898395	NM_012469.4(PRPF6):c.1525-7C>T	PRPF6, LOC126863090	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 866999	NM_012469.4(PRPF6):c.541C>G (p.Pro181Ala)	PRPF6 (P181A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 865813	NM_012469.4(PRPF6):c.2313_2321dup (p.772_774KNP[3])	PRPF6	Duplication (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 755466	NM_012469.4(PRPF6):c.1602T>C (p.Ile534=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339478	NM_012469.4(PRPF6):c.1647+10C>A	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign
Select item 339477	NM_012469.4(PRPF6):c.1566C>T (p.Cys522=)	LOC126863090, PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 339476	NM_012469.4(PRPF6):c.1524+10A>G	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 339475	NM_012469.4(PRPF6):c.1492G>A (p.Gly498Ser)	LOC126863089, PRPF6 (G498S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 339463	NM_012469.4(PRPF6):c.71+6G>A	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GBenign
Select item 143142	NM_012469.4(PRPF6):c.550G>C (p.Asp184His)	PRPF6 (D184H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic

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Items: 55