13420[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 132

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic
Select item 521739	NM_021222.3(PRUNE1):c.3_7dup (p.Asp3fs)	PRUNE1 (D3fs)	Duplication (5 prime UTR variant +3 more)	Inborn genetic diseases	GPathogenic
Select item 1184491	NM_021222.3(PRUNE1):c.3G>A (p.Met1Ile)	PRUNE1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GLikely pathogenic
Select item 2065280	NM_021222.3(PRUNE1):c.30T>C (p.Ala10=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder +1 more	GLikely benign
Select item 2114373	NM_021222.3(PRUNE1):c.34C>T (p.Leu12=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2780343	NM_021222.3(PRUNE1):c.36G>A (p.Leu12=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2904135	NM_021222.3(PRUNE1):c.39+1G>T	PRUNE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1972603	NM_021222.3(PRUNE1):c.39+13T>G	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2579198	GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0	PRUNE1	Copy number loss	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 2064284	NM_021222.3(PRUNE1):c.40-14T>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2050841	NM_021222.3(PRUNE1):c.44C>T (p.Ser15Phe)	PRUNE1 (S15F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2168756	NM_021222.3(PRUNE1):c.47G>A (p.Arg16Gln)	PRUNE1 (R16Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1711746	NM_021222.3(PRUNE1):c.50dup (p.Leu18fs)	PRUNE1 (L18fs)	Duplication (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 1029812	NM_021222.3(PRUNE1):c.56A>G (p.His19Arg)	PRUNE1 (H19R)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +1 more	GUncertain significance
Select item 2120956	NM_021222.3(PRUNE1):c.71A>G (p.Asn24Ser)	PRUNE1 (N24S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 384334	NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	PRUNE1 (D30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 813906	NM_021222.3(PRUNE1):c.115G>C (p.Ala39Pro)	PRUNE1 (A39P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 932732	NM_021222.3(PRUNE1):c.132+2T>C	PRUNE1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 2035079	NM_021222.3(PRUNE1):c.132+7A>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006178	NM_021222.3(PRUNE1):c.132+7A>G	PRUNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872978	NM_021222.3(PRUNE1):c.132+15G>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101215	NM_021222.3(PRUNE1):c.132+18G>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2103764	NM_021222.3(PRUNE1):c.133-20C>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023040	NM_021222.3(PRUNE1):c.133-13C>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981848	NM_021222.3(PRUNE1):c.141G>A (p.Glu47=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 427231	NM_021222.3(PRUNE1):c.160C>A (p.Pro54Thr)	PRUNE1 (P54T)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 2107817	NM_021222.3(PRUNE1):c.170A>G (p.Asn57Ser)	PRUNE1 (N57S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2064750	NM_021222.3(PRUNE1):c.172A>G (p.Ile58Val)	PRUNE1 (I58V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2063572	NM_021222.3(PRUNE1):c.178C>T (p.Arg60Cys)	PRUNE1 (R60C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2994555	NM_021222.3(PRUNE1):c.179G>A (p.Arg60His)	PRUNE1 (R60H)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 430526	NM_021222.3(PRUNE1):c.196C>T (p.Arg66Ter)	PRUNE1 (R66*)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +1 more	GPathogenic/Likely pathogenic
Select item 3023933	NM_021222.3(PRUNE1):c.197G>A (p.Arg66Gln)	PRUNE1 (R66Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2146924	NM_021222.3(PRUNE1):c.259G>A (p.Asp87Asn)	PRUNE1 (D87N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3065362	NM_021222.3(PRUNE1):c.264G>C (p.Glu88Asp)	PRUNE1 (E88D +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 2062023	NM_021222.3(PRUNE1):c.273C>G (p.Leu91=)	PRUNE1 (S5C)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2721856	NM_021222.3(PRUNE1):c.285C>G (p.Tyr95Ter)	PRUNE1 (T9S +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2116123	NM_021222.3(PRUNE1):c.290C>G (p.Ala97Gly)	PRUNE1 (A97G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2088336	NM_021222.3(PRUNE1):c.294C>A (p.Gly98=)	PRUNE1 (A12D)	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 402131	NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	PRUNE1 (D106N)	Single nucleotide variant (missense variant +2 more)	Abnormal brain morphology +2 more	GPathogenic/Likely pathogenic
Select item 2417327	NM_021222.3(PRUNE1):c.322C>T (p.His108Tyr)	PRUNE1 (H108Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2009166	NM_021222.3(PRUNE1):c.335+6C>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1974685	NM_021222.3(PRUNE1):c.335+7A>G	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096650	NM_021222.3(PRUNE1):c.369G>A (p.Glu123=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1977569	NM_021222.3(PRUNE1):c.369G>C (p.Glu123Asp)	PRUNE1 (E123D)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2891463	NM_021222.3(PRUNE1):c.373C>T (p.Leu125=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1973388	NM_021222.3(PRUNE1):c.378C>T (p.Asp126=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1189774	NM_021222.3(PRUNE1):c.380A>G (p.His127Arg)	PRUNE1 (H127R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 3029943	NM_021222.3(PRUNE1):c.382C>T (p.Arg128Ter)	PRUNE1 (R128*)	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder	GLikely pathogenic
Select item 384335	NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	PRUNE1 (R128Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more	GPathogenic/Likely pathogenic
Select item 2905088	NM_021222.3(PRUNE1):c.390C>T (p.Ile130=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2108889	NM_021222.3(PRUNE1):c.391G>C (p.Glu131Gln)	PRUNE1 (E131Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2759089	NM_021222.3(PRUNE1):c.394C>T (p.Pro132Ser)	PRUNE1 (P132S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 767697	NM_021222.3(PRUNE1):c.404G>A (p.Cys135Tyr)	PRUNE1 (C135Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 2728316	NM_021222.3(PRUNE1):c.407C>G (p.Pro136Arg)	PRUNE1 (P136R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2876079	NM_021222.3(PRUNE1):c.435G>A (p.Val145=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1029811	NM_021222.3(PRUNE1):c.436G>T (p.Gly146Trp)	PRUNE1 (G146W)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 2080273	NM_021222.3(PRUNE1):c.459C>T (p.Thr153=)	PRUNE1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2762701	NM_021222.3(PRUNE1):c.460G>A (p.Glu154Lys)	PRUNE1 (E154K)	Single nucleotide variant (5 prime UTR variant +2 more)	PRUNE1-related disorder +1 more	GBenign
Select item 1717013	NM_021222.3(PRUNE1):c.503C>T (p.Thr168Ile)	PRUNE1 (T168I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1032877	NM_021222.3(PRUNE1):c.506C>T (p.Ala169Val)	PRUNE1 (A169V)	Single nucleotide variant (intron variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 1711748	NM_021222.3(PRUNE1):c.515T>C (p.Leu172Pro)	PRUNE1 (L172P)	Single nucleotide variant (5 prime UTR variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 402132	NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter)	PRUNE1 (G174*)	Single nucleotide variant (5 prime UTR variant +2 more)	Abnormal brain morphology	GLikely pathogenic
Select item 265536	NM_021222.3(PRUNE1):c.521-2A>G	PRUNE1	Single nucleotide variant (splice acceptor variant +1 more)	PRUNE1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2710477	NM_021222.3(PRUNE1):c.538T>C (p.Cys180Arg)	PRUNE1 (C180R)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 1711747	NM_021222.3(PRUNE1):c.540T>A (p.Cys180Ter)	PRUNE1	Single nucleotide variant (5 prime UTR variant +3 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GPathogenic
Select item 2049819	NM_021222.3(PRUNE1):c.569C>T (p.Ala190Val)	PRUNE1 (A190V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2985330	NM_021222.3(PRUNE1):c.579G>A (p.Lys193=)	PRUNE1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2869821	NM_021222.3(PRUNE1):c.591T>C (p.Tyr197=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3238736	NM_021222.3(PRUNE1):c.631A>T (p.Arg211Ter)	PRUNE1 (R211* +1 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 2099571	NM_021222.3(PRUNE1):c.637G>A (p.Asp213Asn)	PRUNE1 (D213N +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1699530	NM_021222.3(PRUNE1):c.640A>G (p.Ile214Val)	PRUNE1 (I214V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 521740	NM_021222.3(PRUNE1):c.661del (p.Ala221fs)	PRUNE1 (A221fs +1 more)	Deletion (frameshift variant +2 more)	Inborn genetic diseases	GPathogenic
Select item 2104763	NM_021222.3(PRUNE1):c.670G>A (p.Asp224Asn)	PRUNE1 (D224N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2777635	NM_021222.3(PRUNE1):c.679+11_679+12insG	PRUNE1	Insertion (intron variant)	not provided	GLikely benign
Select item 2955049	NM_021222.3(PRUNE1):c.680-10T>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2002792	NM_021222.3(PRUNE1):c.708A>G (p.Lys236=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2717697	NM_021222.3(PRUNE1):c.723_726del (p.Tyr242fs)	PRUNE1 (Y41fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2189002	NM_021222.3(PRUNE1):c.735C>T (p.Gly245=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2060094	NM_021222.3(PRUNE1):c.736G>A (p.Val246Ile)	PRUNE1 (V64I +2 more)	Single nucleotide variant (missense variant +1 more)	PRUNE1-related disorder +1 more	GBenign/Likely benign
Select item 2871952	NM_021222.3(PRUNE1):c.747C>T (p.Ala249=)	PRUNE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2085336	NM_021222.3(PRUNE1):c.763A>G (p.Met255Val)	PRUNE1 (M255V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1972539	NM_021222.3(PRUNE1):c.774+11G>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868175	NM_021222.3(PRUNE1):c.775-17C>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971330	NM_021222.3(PRUNE1):c.775-16G>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2895979	NM_021222.3(PRUNE1):c.775-10T>G	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026867	NM_021222.3(PRUNE1):c.783G>C (p.Leu261=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2042264	NM_021222.3(PRUNE1):c.798C>T (p.Leu266=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 450387	NM_021222.3(PRUNE1):c.809T>C (p.Leu270Pro)	PRUNE1 (L270P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2725461	NM_021222.3(PRUNE1):c.822C>T (p.Cys274=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 427232	NM_021222.3(PRUNE1):c.889C>T (p.Arg297Trp)	PRUNE1 (R297W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 592125	NM_021222.3(PRUNE1):c.901A>G (p.Ile301Val)	PRUNE1 (I301V +2 more)	Single nucleotide variant (intron variant +2 more)	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	GUncertain significance
Select item 2039387	NM_021222.3(PRUNE1):c.932C>T (p.Thr311Met)	PRUNE1 (T110M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 978029	NM_021222.3(PRUNE1):c.933G>A (p.Thr311=)	PRUNE1	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2101847	NM_021222.3(PRUNE1):c.934-19G>A	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974310	NM_021222.3(PRUNE1):c.934-16A>T	PRUNE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2117661	NM_021222.3(PRUNE1):c.934-15T>C	PRUNE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2372647	NM_021222.3(PRUNE1):c.962C>T (p.Ser321Phe)	PRUNE1 (S120F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1714494	NM_021222.3(PRUNE1):c.1005C>A (p.Asn335Lys)	PRUNE1 (N134K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072046	NM_021222.3(PRUNE1):c.1016A>G (p.Tyr339Cys)	PRUNE1 (Y286C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 2