24148[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 58975	GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1	ABHD16B, ARFGAP1 +249 more	Copy number loss	See cases	GPathogenic
Select item 144360	GRCh38/hg38 20q13.33(chr20:62561794-64277321)x1	ABHD16B, ARFGAP1 +248 more	Copy number loss	See cases	GPathogenic
Select item 153305	GRCh38/hg38 20q13.33(chr20:62582073-64284202)x1	LOC130066412, LOC130066413 +244 more	Copy number loss	See cases	GPathogenic
Select item 153207	GRCh38/hg38 20q13.33(chr20:62663307-64284202)x1	ABHD16B, ARFGAP1 +230 more	Copy number loss	See cases	GPathogenic
Select item 148310	GRCh38/hg38 20q13.33(chr20:63153963-64277321)x1	RGS19, RTEL1 +181 more	Copy number loss	See cases	GPathogenic
Select item 160985	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3	ABHD16B, ARFGAP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 146197	GRCh38/hg38 20q13.33(chr20:63199020-64277321)x1	ABHD16B, ARFGAP1 +177 more	Copy number loss	See cases	GLikely pathogenic
Select item 153330	GRCh38/hg38 20q13.33(chr20:63385523-64270639)x3	ABHD16B, ARFRP1 +156 more	Copy number gain	See cases	GUncertain significance
Select item 57315	GRCh38/hg38 20q13.33(chr20:63827808-64100279)x3	ABHD16B, C20orf181 +63 more	Copy number gain	See cases	GUncertain significance
Select item 339450	NM_012469.3(PRPF6):c.-147A>C	PRPF6	Single nucleotide variant	Retinitis Pigmentosa, Dominant	GUncertain significance
Select item 339451	NM_012469.3(PRPF6):c.-119G>A	PRPF6	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 896694	NM_012469.4(PRPF6):c.-107A>G	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 896695	NM_012469.4(PRPF6):c.-99C>G	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339452	NM_012469.4(PRPF6):c.-89C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339453	NM_012469.4(PRPF6):c.-86C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339454	NM_012469.4(PRPF6):c.-83A>G	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339455	NM_012469.4(PRPF6):c.-82C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339456	NM_012469.4(PRPF6):c.-79C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 339457	NM_012469.4(PRPF6):c.-78G>A	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GLikely benign
Select item 339458	NM_012469.4(PRPF6):c.-75G>A	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GBenign
Select item 339459	NM_012469.4(PRPF6):c.-54C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 898312	NM_012469.4(PRPF6):c.-53C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 339460	NM_012469.4(PRPF6):c.-25C>T	PRPF6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 1967007	NM_012469.4(PRPF6):c.21G>C (p.Pro7=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783875	NM_012469.4(PRPF6):c.24C>T (p.Phe8=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975383	NM_012469.4(PRPF6):c.34C>T (p.Pro12Ser)	PRPF6 (P12S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 339461	NM_012469.4(PRPF6):c.42C>T (p.Pro14=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign
Select item 1132393	NM_012469.4(PRPF6):c.48C>T (p.Gly16=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1116956	NM_012469.4(PRPF6):c.51C>T (p.Tyr17=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339462	NM_012469.4(PRPF6):c.57G>A (p.Pro19=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1161275	NM_012469.4(PRPF6):c.60G>C (p.Gly20=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898313	NM_012469.4(PRPF6):c.61C>T (p.Leu21=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1908833	NM_012469.4(PRPF6):c.66C>T (p.Gly22=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1425292	NM_012469.4(PRPF6):c.71+6_71+7delinsAA	LOC130066413, PRPF6	Indel (intron variant)	not provided	GUncertain significance
Select item 339463	NM_012469.4(PRPF6):c.71+6G>A	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 961154	NM_012469.4(PRPF6):c.71+7C>T	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1656109	NM_012469.4(PRPF6):c.71+8C>T	LOC130066413, PRPF6	Single nucleotide variant (intron 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 1659850	NM_012469.4(PRPF6):c.71+15G>T	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965948	NM_012469.4(PRPF6):c.71+18G>A	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely 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 2031553	NM_012469.4(PRPF6):c.72-20G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660184	NM_012469.4(PRPF6):c.72-15G>C	PRPF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2112009	NM_012469.4(PRPF6):c.72-13G>C	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642731	NM_012469.4(PRPF6):c.72-9C>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1132394	NM_012469.4(PRPF6):c.72-9C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1485445	NM_012469.4(PRPF6):c.72C>T (p.Gly24=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1124799	NM_012469.4(PRPF6):c.87C>G (p.Thr29=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108664	NM_012469.4(PRPF6):c.93G>T (p.Arg31=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913561	NM_012469.4(PRPF6):c.108C>T (p.Pro36=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339464	NM_012469.4(PRPF6):c.120A>G (p.Ala40=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 60 +2 more	GBenign
Select item 3028552	NM_012469.4(PRPF6):c.132G>A (p.Val44=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 1005078	NM_012469.4(PRPF6):c.139C>T (p.Arg47Cys)	PRPF6 (R47C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1043535	NM_012469.4(PRPF6):c.143A>G (p.His48Arg)	PRPF6 (H48R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934339	NM_012469.4(PRPF6):c.144T>C (p.His48=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605014	NM_012469.4(PRPF6):c.165C>T (p.Thr55=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1088617	NM_012469.4(PRPF6):c.165C>A (p.Thr55=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1670177	NM_012469.4(PRPF6):c.168T>C (p.Val56=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 195289	NM_012469.4(PRPF6):c.171G>C (p.Gly57=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1145504	NM_012469.4(PRPF6):c.177G>A (p.Gln59=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372633	NM_012469.4(PRPF6):c.186A>C (p.Lys62Asn)	PRPF6 (K62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836440	NM_012469.4(PRPF6):c.188A>C (p.Asn63Thr)	PRPF6 (N63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016322	NM_012469.4(PRPF6):c.190C>A (p.Gln64Lys)	PRPF6 (Q64K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080755	NM_012469.4(PRPF6):c.192G>A (p.Gln64=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 339465	NM_012469.4(PRPF6):c.193G>A (p.Ala65Thr)	PRPF6 (A65T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1662610	NM_012469.4(PRPF6):c.201C>T (p.Asp67=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717821	NM_012469.4(PRPF6):c.202G>A (p.Asp68Asn)	PRPF6 (D68N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140794	NM_012469.4(PRPF6):c.207C>T (p.Asp69=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657670	NM_012469.4(PRPF6):c.210C>T (p.Asp70=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108767	NM_012469.4(PRPF6):c.217C>T (p.Leu73=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1563318	NM_012469.4(PRPF6):c.225C>T (p.Asp75=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2020937	NM_012469.4(PRPF6):c.234C>T (p.Tyr78=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1722097	NM_012469.4(PRPF6):c.238G>A (p.Glu80Lys)	PRPF6 (E80K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414308	NM_012469.4(PRPF6):c.240+1G>A	PRPF6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2054589	NM_012469.4(PRPF6):c.240+10G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1615780	NM_012469.4(PRPF6):c.240+20C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1615213	NM_012469.4(PRPF6):c.241-19C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1656751	NM_012469.4(PRPF6):c.241-18G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 858445	NM_012469.4(PRPF6):c.256G>A (p.Gly86Arg)	PRPF6 (G86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734361	NM_012469.4(PRPF6):c.267C>T (p.Phe89=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1935822	NM_012469.4(PRPF6):c.271A>G (p.Ser91Gly)	PRPF6 (S91G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895332	NM_012469.4(PRPF6):c.279C>T (p.Pro93=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 895333	NM_012469.4(PRPF6):c.282C>T (p.Tyr94=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1666280	NM_012469.4(PRPF6):c.291T>C (p.Asp97=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551466	NM_012469.4(PRPF6):c.306T>C (p.Asp102=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1114689	NM_012469.4(PRPF6):c.309T>C (p.Ala103=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1108431	NM_012469.4(PRPF6):c.312C>A (p.Ile104=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 970325	NM_012469.4(PRPF6):c.314A>G (p.Tyr105Cys)	PRPF6 (Y105C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480227	NM_012469.4(PRPF6):c.341A>G (p.Glu114Gly)	PRPF6 (E114G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 895334	NM_012469.4(PRPF6):c.351A>G (p.Lys117=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa	GUncertain significance
Select item 2105647	NM_012469.4(PRPF6):c.354A>C (p.Glu118Asp)	PRPF6 (E118D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162099	NM_012469.4(PRPF6):c.359+7G>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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