80331[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 339344	NM_025219.3(DNAJC5):c.-194C>T	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339345	NM_025219.3(DNAJC5):c.-184CTGCCG[5]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GLikely benign
Select item 339346	NM_025219.3(DNAJC5):c.-186C>T	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339347	NM_025219.3(DNAJC5):c.-185G>T	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339348	NM_025219.3(DNAJC5):c.-160_-155dup	LOC130066405, DNAJC5	Duplication (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 339349	NM_025219.3(DNAJC5):c.-160G>C	DNAJC5, LOC130066405	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 2652561	NM_025219.3(DNAJC5):c.-140GCC[10]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 339351	NM_025219.3(DNAJC5):c.-140GCC[9]	LOC130066405, DNAJC5	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 339350	NM_025219.3(DNAJC5):c.-140GCC[8]	DNAJC5, LOC130066405	Microsatellite (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GBenign
Select item 339352	NM_025219.3(DNAJC5):c.-109A>G	DNAJC5	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GUncertain significance
Select item 339353	NM_025219.3(DNAJC5):c.-95G>C	DNAJC5	Single nucleotide variant (5 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 339354	NM_025219.3(DNAJC5):c.-89C>G	DNAJC5	Single nucleotide variant (5 prime UTR variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 418748	NM_025219.3(DNAJC5):c.-59CGGAGCCG[3]	DNAJC5	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 384761	NM_025219.3(DNAJC5):c.-45C>G	DNAJC5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516418	NM_025219.3(DNAJC5):c.-35GCGG[5]	DNAJC5	Microsatellite (5 prime UTR variant)	not specified	GLikely benign
Select item 339355	NM_025219.3(DNAJC5):c.-33G>A	DNAJC5	Single nucleotide variant (5 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 420557	NM_025219.3(DNAJC5):c.-21_-14del	DNAJC5	Deletion (5 prime UTR variant)	not specified	GLikely benign
Select item 449701	NM_025219.3(DNAJC5):c.-12+1_-12+28del	DNAJC5	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 899121	NM_025219.3(DNAJC5):c.-12+11T>A	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 384174	NM_025219.3(DNAJC5):c.-12+12G>T	DNAJC5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 899122	NM_025219.3(DNAJC5):c.-12+15G>T	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 379279	NM_025219.3(DNAJC5):c.-12+20G>A	DNAJC5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1228738	NM_025219.3(DNAJC5):c.-12+43G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202208	NM_025219.3(DNAJC5):c.-12+125G>C	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 584180	NC_000020.10:g.(?_62559679)_(62562941_?)dup	DNAJC5	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 509567	NM_025219.3(DNAJC5):c.-11-9T>C	DNAJC5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 978128	NM_025219.3(DNAJC5):c.-11-2A>G	DNAJC5	Single nucleotide variant (splice acceptor variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +1 more	GUncertain significance
Select item 417347	NC_000020.10:g.(?_62559688)_(62567384_?)dup	DNAJC5	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1054764	NM_025219.3(DNAJC5):c.7G>C (p.Asp3His)	DNAJC5 (D3H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1699575	NM_025219.3(DNAJC5):c.8A>G (p.Asp3Gly)	DNAJC5 (D3G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2166397	NM_025219.3(DNAJC5):c.9C>T (p.Asp3=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 510563	NM_025219.3(DNAJC5):c.12G>A (p.Gln4=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 662459	NM_025219.3(DNAJC5):c.14G>A (p.Arg5Lys)	DNAJC5 (R5K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 797916	NM_025219.3(DNAJC5):c.18G>A (p.Gln6=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 849077	NM_025219.3(DNAJC5):c.20G>A (p.Arg7His)	DNAJC5 (R7H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 3250893	NM_025219.3(DNAJC5):c.21C>T (p.Arg7=)	DNAJC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1115454	NM_025219.3(DNAJC5):c.25C>T (p.Leu9=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 205369	NM_025219.3(DNAJC5):c.31A>G (p.Thr11Ala)	DNAJC5 (T11A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1543907	NM_025219.3(DNAJC5):c.39G>A (p.Gly13=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1395768	NM_025219.3(DNAJC5):c.42G>C (p.Glu14Asp)	DNAJC5 (E14D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 3343634	NM_025219.3(DNAJC5):c.44C>A (p.Ser15Ter)	DNAJC5 (S15*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 205364	NM_025219.3(DNAJC5):c.45A>G (p.Ser15=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +4 more	GBenign/Likely benign
Select item 760345	NM_025219.3(DNAJC5):c.46T>C (p.Leu16=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2912673	NM_025219.3(DNAJC5):c.52C>T (p.His18Tyr)	DNAJC5 (H18Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 833806	NM_025219.3(DNAJC5):c.52C>G (p.His18Asp)	DNAJC5 (H18D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 700601	NM_025219.3(DNAJC5):c.54C>T (p.His18=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1419185	NM_025219.3(DNAJC5):c.55G>A (p.Val19Ile)	DNAJC5 (V19I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2173924	NM_025219.3(DNAJC5):c.57C>T (p.Val19=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205370	NM_025219.3(DNAJC5):c.58C>T (p.Leu20Phe)	DNAJC5 (L20F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1640594	NM_025219.3(DNAJC5):c.60T>C (p.Leu20=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 390639	NM_025219.3(DNAJC5):c.66G>A (p.Leu22=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2094642	NM_025219.3(DNAJC5):c.70A>C (p.Lys24Gln)	DNAJC5 (K24Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1355562	NM_025219.3(DNAJC5):c.70A>G (p.Lys24Glu)	DNAJC5 (K24E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 954839	NM_025219.3(DNAJC5):c.74A>G (p.Asn25Ser)	DNAJC5 (N25S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 290991	NM_025219.3(DNAJC5):c.75C>T (p.Asn25=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 658786	NM_025219.3(DNAJC5):c.76G>A (p.Ala26Thr)	DNAJC5 (A26T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1003409	NM_025219.3(DNAJC5):c.80C>T (p.Thr27Ile)	DNAJC5 (T27I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1026410	NM_025219.3(DNAJC5):c.86A>G (p.Asp29Gly)	DNAJC5 (D29G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1516192	NM_025219.3(DNAJC5):c.87T>G (p.Asp29Glu)	DNAJC5 (D29E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 508874	NM_025219.3(DNAJC5):c.87T>C (p.Asp29=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2652562	NM_025219.3(DNAJC5):c.91A>G (p.Ile31Val)	DNAJC5 (I31V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154469	NM_025219.3(DNAJC5):c.96A>G (p.Lys32=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1139150	NM_025219.3(DNAJC5):c.99G>A (p.Lys33=)	DNAJC5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1314672	NM_025219.3(DNAJC5):c.106C>T (p.Arg36Trp)	DNAJC5 (R36W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006679	NM_025219.3(DNAJC5):c.107G>A (p.Arg36Gln)	DNAJC5 (R36Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 894988	NM_025219.3(DNAJC5):c.107+8G>T	DNAJC5	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type)	GUncertain significance
Select item 205365	NM_025219.3(DNAJC5):c.107+10C>T	DNAJC5	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 205371	NM_025219.3(DNAJC5):c.107+12A>G	DNAJC5	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +3 more	GBenign/Likely benign
Select item 675162	NM_025219.3(DNAJC5):c.107+115G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679297	NM_025219.3(DNAJC5):c.107+159G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669806	NM_025219.3(DNAJC5):c.108-266C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259102	NM_025219.3(DNAJC5):c.108-157C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674475	NM_025219.3(DNAJC5):c.108-64C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198474	NM_025219.3(DNAJC5):c.108-62C>T	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675163	NM_025219.3(DNAJC5):c.108-61G>A	DNAJC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 205372	NM_025219.3(DNAJC5):c.108-6T>G	DNAJC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 205377	NM_025219.3(DNAJC5):c.108-3C>T	DNAJC5	Single nucleotide variant (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +4 more	GBenign/Likely benign
Select item 1488110	NM_025219.3(DNAJC5):c.108G>C (p.Arg36=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1111584	NM_025219.3(DNAJC5):c.111G>A (p.Lys37=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 339356	NM_025219.3(DNAJC5):c.122A>G (p.Lys41Arg)	DNAJC5 (K41R)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 4 (Kufs type) +2 more	GConflicting classifications of pathogenicity
Select item 1587638	NM_025219.3(DNAJC5):c.126T>C (p.Tyr42=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205366	NM_025219.3(DNAJC5):c.132C>T (p.Pro44=)	DNAJC5	Single nucleotide variant (synonymous variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +4 more	GBenign/Likely benign
Select item 1017049	NM_025219.3(DNAJC5):c.141C>A (p.Asn47Lys)	DNAJC5 (N47K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance

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