6101[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	LOC124174256, LOC124174257 +541 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +489 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +173 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	LINC00588, LINC00968 +226 more	Copy number loss	See cases	GPathogenic
Select item 369611	NM_006269.1(RP1):c.-154T>C	RP1	Single nucleotide variant	Retinitis Pigmentosa, Dominant	GLikely benign
Select item 363274	NM_006269.2(RP1):c.-106G>A	RP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 363275	NM_006269.2(RP1):c.-101G>A	RP1	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 912104	NM_006269.2(RP1):c.-51A>G	RP1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 908097	NM_006269.2(RP1):c.-37T>C	RP1	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa	GUncertain significance
Select item 438254	Single allele	LOC126860392, RP1	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 363276	NM_006269.2(RP1):c.-12-12T>C	RP1	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 2500819	NM_006269.2(RP1):c.6_7del (p.Ser2fs)	RP1 (S2fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 2095546	NM_006269.2(RP1):c.15T>C (p.Pro5=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005268	NM_006269.2(RP1):c.21T>C (p.Thr7=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 908098	NM_006269.2(RP1):c.21T>G (p.Thr7=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2241118	NM_006269.2(RP1):c.23G>T (p.Gly8Val)	RP1 (G8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803210	NM_006269.2(RP1):c.32T>A (p.Ile11Asn)	RP1 (I11N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1	GUncertain significance
Select item 3006388	NM_006269.2(RP1):c.35T>C (p.Ile12Thr)	RP1 (I12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436527	NM_006269.2(RP1):c.40C>G (p.Pro14Ala)	RP1 (P14A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175356	NM_006269.2(RP1):c.44C>T (p.Thr15Met)	RP1 (T15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804516	NM_006269.2(RP1):c.45G>A (p.Thr15=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483213	NM_006269.2(RP1):c.50C>A (p.Ser17Tyr)	RP1 (S17Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705804	NM_006269.2(RP1):c.55G>A (p.Gly19Ser)	RP1 (G19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3155793	NM_006269.2(RP1):c.59A>C (p.Gln20Pro)	RP1 (Q20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 848593	NM_006269.2(RP1):c.65C>T (p.Pro22Leu)	RP1 (P22L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2418953	NM_006269.2(RP1):c.71dup (p.Arg25fs)	RP1 (R25fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1715798	NM_006269.2(RP1):c.67C>T (p.Pro23Ser)	RP1 (P23S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791725	NM_006269.2(RP1):c.69C>T (p.Pro23=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900451	NM_006269.2(RP1):c.71C>T (p.Pro24Leu)	RP1 (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464871	NM_006269.2(RP1):c.71C>G (p.Pro24Arg)	RP1 (P24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424798	NM_006269.2(RP1):c.72del (p.Arg25fs)	RP1 (R25fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1503553	NM_006269.2(RP1):c.73C>T (p.Arg25Cys)	RP1 (R25C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 363277	NM_006269.2(RP1):c.74G>A (p.Arg25His)	RP1 (R25H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 3155794	NM_006269.2(RP1):c.77A>G (p.His26Arg)	RP1 (H26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471916	NM_006269.2(RP1):c.103G>T (p.Ala35Ser)	RP1 (A35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908099	NM_006269.2(RP1):c.104C>T (p.Ala35Val)	RP1 (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 236413	NM_006269.2(RP1):c.121T>C (p.Tyr41His)	RP1 (Y41H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1436900	NM_006269.2(RP1):c.124A>C (p.Lys42Gln)	RP1 (K42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496117	NM_006269.2(RP1):c.126G>C (p.Lys42Asn)	RP1 (K42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028082	NM_006269.2(RP1):c.129C>T (p.Ser43=)	RP1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 958417	NM_006269.2(RP1):c.139dup (p.Gln47fs)	RP1 (Q47fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1514159	NM_006269.2(RP1):c.137C>G (p.Pro46Arg)	RP1 (P46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 841937	NM_006269.2(RP1):c.137C>A (p.Pro46His)	RP1 (P46H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738055	NM_006269.2(RP1):c.141A>G (p.Gln47=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2972606	NM_006269.2(RP1):c.143del (p.Phe48fs)	RP1 (F48fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1497732	NM_006269.2(RP1):c.145G>A (p.Gly49Ser)	RP1 (G49S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 961912	NM_006269.2(RP1):c.148G>C (p.Gly50Arg)	RP1 (G50R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602665	NM_006269.2(RP1):c.150G>A (p.Gly50=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1401598	NM_006269.2(RP1):c.150_168delinsAGACCCCCAATT (p.Val51fs)	RP1 (V51fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2709693	NM_006269.2(RP1):c.151G>C (p.Val51Leu)	RP1 (V51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2112926	NM_006269.2(RP1):c.155G>A (p.Arg52Lys)	RP1 (R52K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008361	NM_006269.2(RP1):c.160G>A (p.Val54Met)	RP1 (V54M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866984	NM_006269.2(RP1):c.164T>A (p.Val55Asp)	RP1 (V55D)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1058161	NM_006269.2(RP1):c.166A>C (p.Asn56His)	RP1 (N56H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1602666	NM_006269.2(RP1):c.168C>T (p.Asn56=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 839385	NM_006269.2(RP1):c.172C>T (p.Arg58Cys)	RP1 (R58C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2239032	NM_006269.2(RP1):c.173G>A (p.Arg58His)	RP1 (R58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1505855	NM_006269.2(RP1):c.175T>G (p.Ser59Ala)	RP1 (S59A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810286	NM_006269.2(RP1):c.188T>C (p.Phe63Ser)	RP1 (F63S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 3028083	NM_006269.2(RP1):c.190G>A (p.Asp64Asn)	RP1 (D64N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1519891	NM_006269.2(RP1):c.199C>A (p.Leu67Met)	RP1 (L67M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 195262	NM_006269.2(RP1):c.205A>T (p.Asn69Tyr)	RP1 (N69Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469327	NM_006269.2(RP1):c.206A>G (p.Asn69Ser)	RP1 (N69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961936	NM_006269.2(RP1):c.210G>T (p.Leu70Phe)	RP1 (L70F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823322	NM_006269.2(RP1):c.216del (p.Lys73fs)	RP1 (K73fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1716926	NM_006269.2(RP1):c.220G>A (p.Val74Met)	RP1 (V74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167601	NM_006269.2(RP1):c.228C>T (p.Leu76=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 733904	NM_006269.2(RP1):c.243G>A (p.Arg81=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323531	NM_006269.2(RP1):c.257dup (p.Arg87fs)	RP1 (R87fs)	Duplication (frameshift variant)	Retinitis pigmentosa 1	GPathogenic
Select item 1470348	NM_006269.2(RP1):c.256C>A (p.Pro86Thr)	RP1 (P86T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2810990	NM_006269.2(RP1):c.259del (p.Arg87fs)	RP1 (R87fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1952488	NM_006269.2(RP1):c.260G>C (p.Arg87Pro)	RP1 (R87P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721826	NM_006269.2(RP1):c.262G>C (p.Gly88Arg)	RP1 (G88R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420276	NM_006269.2(RP1):c.268C>G (p.His90Asp)	RP1 (H90D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636093	NM_006269.2(RP1):c.269del (p.His90fs)	RP1 (H90fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 871846	NM_006269.2(RP1):c.270del (p.His90fs)	RP1 (H90fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1396631	NM_006269.2(RP1):c.271A>G (p.Ser91Gly)	RP1 (S91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987375	NM_006269.2(RP1):c.271del (p.Ser91fs)	RP1 (S91fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 852572	NM_006269.2(RP1):c.278C>A (p.Thr93Lys)	RP1 (T93K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734306	NM_006269.2(RP1):c.279G>T (p.Thr93=)	RP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 426253	NM_006269.2(RP1):c.281G>A (p.Arg94His)	RP1 (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023829	NM_006269.2(RP1):c.282C>G (p.Arg94=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133155	NM_006269.2(RP1):c.283C>T (p.Leu95=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1071082	NM_006269.2(RP1):c.284dup (p.Glu96fs)	RP1 (E96fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1716256	NM_006269.2(RP1):c.284T>C (p.Leu95Pro)	RP1 (L95P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985876	NM_006269.2(RP1):c.289G>A (p.Glu97Lys)	RP1 (E97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501553	NM_006269.2(RP1):c.292C>G (p.Leu98Val)	RP1 (L98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051162	NM_006269.2(RP1):c.294_302del (p.Asp100_Glu102del)	RP1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2828625	NM_006269.2(RP1):c.297G>A (p.Glu99=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2004784	NM_006269.2(RP1):c.300C>T (p.Asp100=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007389	NM_006269.2(RP1):c.302G>A (p.Gly101Asp)	RP1 (G101D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788062	NM_006269.2(RP1):c.304G>A (p.Glu102Lys)	RP1 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958997	NM_006269.2(RP1):c.305A>C (p.Glu102Ala)	RP1 (E102A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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