5538[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 297212	NM_000310.4(PPT1):c.*1300dup	PPT1	Duplication (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 297213	NM_000310.4(PPT1):c.*1295G>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297214	NM_000310.4(PPT1):c.*1286AAG[1]	PPT1	Microsatellite (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 297215	NM_000310.4(PPT1):c.*1275G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297216	NM_000310.4(PPT1):c.*1154T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 297217	NM_000310.4(PPT1):c.*1088G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297218	NM_000310.4(PPT1):c.*1062G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 874944	NM_000310.4(PPT1):c.*1061C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 297219	NM_000310.4(PPT1):c.*1019C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297220	NM_000310.4(PPT1):c.*998G>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 874945	NM_000310.4(PPT1):c.*991T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297221	NM_000310.4(PPT1):c.*969A>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 874946	NM_000310.4(PPT1):c.*914A>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297222	NM_000310.4(PPT1):c.*910C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 875872	NM_000310.4(PPT1):c.*901C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 297223	NM_000310.4(PPT1):c.*878T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297224	NM_000310.4(PPT1):c.*812C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 297225	NM_000310.4(PPT1):c.*811A>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297226	NM_000310.4(PPT1):c.*802C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297227	NM_000310.4(PPT1):c.*781A>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 875873	NM_000310.4(PPT1):c.*727A>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297228	NM_000310.4(PPT1):c.*709T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 875874	NM_000310.4(PPT1):c.*708A>C	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 876873	NM_000310.4(PPT1):c.*701G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297229	NM_000310.4(PPT1):c.*679C>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297230	NM_000310.4(PPT1):c.*657G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297231	NM_000310.4(PPT1):c.*583G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297232	NM_000310.4(PPT1):c.*568A>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 554008	NM_000310.4(PPT1):c.521_532dup	PPT1	Duplication (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 555485	NM_000310.4(PPT1):c.529_530insGTCA	PPT1	Insertion (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 552533	NM_000310.4(PPT1):c.529_530insATCG	PPT1	Insertion (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 551002	NM_000310.4(PPT1):c.529_530insAGCA	PPT1	Insertion (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297233	NM_000310.4(PPT1):c.526_529dup	PPT1	Duplication (3 prime UTR variant)	not provided +1 more	GBenign
Select item 56142	NM_000310.4(PPT1):c.526_529del	PPT1	Deletion (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 297234	NM_000310.4(PPT1):c.*505C>G	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297235	NM_000310.4(PPT1):c.*484C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297236	NM_000310.4(PPT1):c.*474T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 874071	NM_000310.4(PPT1):c.*470T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297237	NM_000310.4(PPT1):c.*456A>G	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 297238	NM_000310.4(PPT1):c.*388G>C	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 874072	NM_000310.4(PPT1):c.*353C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297239	NM_000310.4(PPT1):c.*340T>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297240	NM_000310.4(PPT1):c.*285T>G	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 297241	NM_000310.4(PPT1):c.*252C>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297242	NM_000310.4(PPT1):c.*161T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 875000	NM_000310.4(PPT1):c.*127A>T	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 297243	NM_000310.4(PPT1):c.*90C>G	PPT1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 533956	NC_000001.10:g.(?_40539713)_(40562930_?)dup	LOC121725014, LOC129930244 +2 more	Duplication	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 138795	NM_000310.4(PPT1):c.*12T>C	PPT1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 204600	NM_000310.4(PPT1):c.*6G>A	PPT1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138793	NM_000310.4(PPT1):c.*3C>A	PPT1	Single nucleotide variant (3 prime UTR variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2501065	NM_000310.4(PPT1):c.920G>T (p.Ter307Leu)	PPT1	Single nucleotide variant (stop lost)	not specified	GUncertain significance
Select item 2089614	NM_000310.4(PPT1):c.916G>C (p.Gly306Arg)	PPT1 (G306R +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 533949	NM_000310.4(PPT1):c.914T>G (p.Leu305Arg)	PPT1 (L305R +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 56220	NM_000310.4(PPT1):c.914T>C (p.Leu305Pro)	PPT1 (L202P +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1010510	NM_000310.4(PPT1):c.910T>C (p.Phe304Leu)	PPT1 (F201L +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 748017	NM_000310.4(PPT1):c.909A>G (p.Pro303=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 836128	NM_000310.4(PPT1):c.908C>T (p.Pro303Leu)	PPT1 (P200L +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2075913	NM_000310.4(PPT1):c.906A>G (p.Ile302Met)	PPT1 (I278M +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 199009	NM_000310.4(PPT1):c.904A>G (p.Ile302Val)	PPT1 (I302V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1030730	NM_000310.4(PPT1):c.902T>A (p.Ile301Asn)	PPT1 (I277N +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 1673548	NM_000310.4(PPT1):c.900C>T (p.His300=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GLikely benign
Select item 2006241	NM_000310.4(PPT1):c.899A>C (p.His300Pro)	PPT1 (H276P +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 1117796	NM_000310.4(PPT1):c.897C>A (p.Ala299=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 852229	NM_000310.4(PPT1):c.896C>T (p.Ala299Val)	PPT1 (A299V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 875001	NM_000310.4(PPT1):c.894T>C (p.Tyr298=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GConflicting classifications of pathogenicity
Select item 56219	NM_000310.4(PPT1):c.888G>A (p.Trp296Ter)	PPT1 (W193* +2 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 56218	NM_000310.4(PPT1):c.886T>C (p.Trp296Arg)	PPT1 (W193R +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2678043	NM_000310.4(PPT1):c.885del (p.Glu295fs)	PPT1 (E192fs +2 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1576710	NM_000310.4(PPT1):c.885A>G (p.Glu295=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2829498	NM_000310.4(PPT1):c.879T>A (p.Ser293=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 954949	NM_000310.4(PPT1):c.878C>T (p.Ser293Phe)	PPT1 (S190F +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 991803	NM_000310.4(PPT1):c.877T>C (p.Ser293Pro)	PPT1 (S190P +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 533951	NM_000310.4(PPT1):c.875T>C (p.Leu292Ser)	PPT1 (L292S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2014606	NM_000310.4(PPT1):c.873G>A (p.Gln291=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 56217	NM_000310.4(PPT1):c.871C>T (p.Gln291Ter)	PPT1 (Q188* +2 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 1491869	NM_000310.4(PPT1):c.862G>A (p.Asp288Asn)	PPT1 (D185N +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 660378	NM_000310.4(PPT1):c.856G>A (p.Glu286Lys)	PPT1 (E286K +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 862412	NM_000310.4(PPT1):c.850G>C (p.Ala284Pro)	PPT1 (A284P +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 2046211	NM_000310.4(PPT1):c.849G>A (p.Leu283=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 1116592	NM_000310.4(PPT1):c.843G>A (p.Val281=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 748131	NM_000310.4(PPT1):c.840A>G (p.Leu280=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 2865645	NM_000310.4(PPT1):c.838C>T (p.Leu280=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 130023	NM_000310.4(PPT1):c.837G>C (p.Gln279His)	PPT1 (Q279H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GBenign
Select item 551569	NM_000310.4(PPT1):c.835C>T (p.Gln279Ter)	PPT1 (Q279* +2 more)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 972558	NM_000310.4(PPT1):c.832G>A (p.Gly278Arg)	PPT1 (G254R +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 1404308	NM_000310.4(PPT1):c.830C>T (p.Ala277Val)	PPT1 (A174V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1647326	NM_000310.4(PPT1):c.828T>C (p.Asn276=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 1400941	NM_000310.4(PPT1):c.824A>T (p.Asp275Val)	PPT1 (D172V +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +1 more	GUncertain significance
Select item 1035086	NM_000310.4(PPT1):c.822G>A (p.Met274Ile)	PPT1 (M171I +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 370544	NM_000310.4(PPT1):c.821dup (p.Met274fs)	PPT1 (M171fs +2 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 1878635	NM_000310.4(PPT1):c.820dup (p.Met274fs)	PPT1 (M171fs +2 more)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GLikely pathogenic
Select item 2744463	NM_000310.4(PPT1):c.820del (p.Met274fs)	PPT1 (M250fs +2 more)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 1	GPathogenic
Select item 1543189	NM_000310.4(PPT1):c.819A>G (p.Glu273=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign
Select item 533955	NM_000310.4(PPT1):c.817G>A (p.Glu273Lys)	PPT1 (E273K +2 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1	GUncertain significance
Select item 1651998	NM_000310.4(PPT1):c.813A>G (p.Leu271=)	PPT1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 1	GLikely benign

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