CLN8[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 669706	NM_018941.4(CLN8):c.-123-328C>G	CLN8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279902	NM_018941.4(CLN8):c.-123-225G>C	CLN8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181243	NM_018941.4(CLN8):c.-123-127C>T	CLN8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 136805	NM_018941.4(CLN8):c.-123-4T>C	CLN8	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 553622	NM_018941.4(CLN8):c.-123-1G>C	CLN8	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 8	GUncertain significance
Select item 205187	NM_018941.4(CLN8):c.-122T>G	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515035	NM_018941.4(CLN8):c.-121T>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 377697	NM_018941.4(CLN8):c.-120G>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 506715	NM_018941.4(CLN8):c.-116A>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 384956	NM_018941.4(CLN8):c.-113G>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1253272	NM_018941.4(CLN8):c.-108G>A	CLN8	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 205188	NM_018941.4(CLN8):c.-46C>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 457934	NC_000008.10:g.(?_1719201)_(1728753_?)dup	CLN8	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457933	NC_000008.11:g.(?_1771035)_(1780587_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 647473	NC_000008.11:g.(?_1771045)_(1780577_?)del	CLN8	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 205189	NM_018941.4(CLN8):c.-1A>T	CLN8	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2749928	NM_018941.4(CLN8):c.1A>T (p.Met1Leu)	CLN8 (M1L)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 487522	NM_018941.4(CLN8):c.1A>G (p.Met1Val)	CLN8 (M1V)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 8 +1 more	GPathogenic
Select item 555468	NM_018941.4(CLN8):c.2T>C (p.Met1Thr)	CLN8 (M1T)	Single nucleotide variant (missense variant +1 more)	Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 2103550	NM_018941.4(CLN8):c.5A>G (p.Asn2Ser)	CLN8 (N2S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 969683	NM_018941.4(CLN8):c.7C>T (p.Pro3Ser)	CLN8 (P3S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1127023	NM_018941.4(CLN8):c.9T>C (p.Pro3=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 195348	NM_018941.4(CLN8):c.11C>T (p.Ala4Val)	CLN8 (A4V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2759339	NM_018941.4(CLN8):c.12G>C (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1655154	NM_018941.4(CLN8):c.12G>T (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1143189	NM_018941.4(CLN8):c.12G>A (p.Ala4=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1506915	NM_018941.4(CLN8):c.15C>G (p.Ser5Arg)	CLN8 (S5R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 377698	NM_018941.4(CLN8):c.15C>T (p.Ser5=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1465767	NM_018941.4(CLN8):c.16G>A (p.Asp6Asn)	CLN8 (D6N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 951730	NM_018941.4(CLN8):c.16G>T (p.Asp6Tyr)	CLN8 (D6Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205199	NM_018941.4(CLN8):c.16G>C (p.Asp6His)	CLN8 (D6H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 205200	NM_018941.4(CLN8):c.17A>G (p.Asp6Gly)	CLN8 (D6G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 2011509	NM_018941.4(CLN8):c.18T>G (p.Asp6Glu)	CLN8 (D6E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1387519	NM_018941.4(CLN8):c.18T>A (p.Asp6Glu)	CLN8 (D6E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1133975	NM_018941.4(CLN8):c.18T>C (p.Asp6=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 665243	NM_018941.4(CLN8):c.19G>A (p.Gly7Arg)	CLN8 (G7R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2009501	NM_018941.4(CLN8):c.20G>C (p.Gly7Ala)	CLN8 (G7A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1151944	NM_018941.4(CLN8):c.21G>C (p.Gly7=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 704177	NM_018941.4(CLN8):c.21G>A (p.Gly7=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1508007	NM_018941.4(CLN8):c.23G>T (p.Gly8Val)	CLN8 (G8V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1060912	NM_018941.4(CLN8):c.26C>T (p.Thr9Ile)	CLN8 (T9I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1570035	NM_018941.4(CLN8):c.27A>C (p.Thr9=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1005523	NM_018941.4(CLN8):c.27A>G (p.Thr9=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1389933	NM_018941.4(CLN8):c.29C>G (p.Ser10Ter)	CLN8 (S10*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 934870	NM_018941.4(CLN8):c.29C>T (p.Ser10Leu)	CLN8 (S10L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1557047	NM_018941.4(CLN8):c.33G>A (p.Glu11=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1014772	NM_018941.4(CLN8):c.35G>C (p.Ser12Thr)	CLN8 (S12T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 991257	NM_018941.4(CLN8):c.37A>G (p.Ile13Val)	CLN8 (I13V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 3006075	NM_018941.4(CLN8):c.39T>A (p.Ile13=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 967435	NM_018941.4(CLN8):c.39T>G (p.Ile13Met)	CLN8 (I13M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1385086	NM_018941.4(CLN8):c.41T>C (p.Phe14Ser)	CLN8 (F14S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2503808	NM_018941.4(CLN8):c.43del (p.Asp15fs)	CLN8 (D15fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 513540	NM_018941.4(CLN8):c.46C>T (p.Leu16=)	CLN8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 56709	NM_018941.4(CLN8):c.46C>A (p.Leu16Met)	CLN8 (L16M)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 370918	NM_018941.4(CLN8):c.47del (p.Leu16fs)	CLN8 (L16fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 287509	NM_018941.4(CLN8):c.47T>G (p.Leu16Arg)	CLN8 (L16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547990	NM_018941.4(CLN8):c.48G>C (p.Leu16=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1395698	NM_018941.4(CLN8):c.50A>T (p.Asp17Val)	CLN8 (D17V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 555573	NM_018941.4(CLN8):c.50del (p.Asp17fs)	CLN8 (D17fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 8	GLikely pathogenic
Select item 205201	NM_018941.4(CLN8):c.50A>G (p.Asp17Gly)	CLN8 (D17G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 1412212	NM_018941.4(CLN8):c.53A>G (p.Tyr18Cys)	CLN8 (Y18C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205202	NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)	CLN8 (Y18F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +3 more	GUncertain significance
Select item 1357044	NM_018941.4(CLN8):c.56C>T (p.Ala19Val)	CLN8 (A19V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1649877	NM_018941.4(CLN8):c.57A>G (p.Ala19=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1442771	NM_018941.4(CLN8):c.59C>T (p.Ser20Phe)	CLN8 (S20F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205203	NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)	CLN8 (S20C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +4 more	GUncertain significance
Select item 56718	NM_018941.4(CLN8):c.66del (p.Ile23fs)	CLN8 (I23fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 8	GPathogenic/Likely pathogenic
Select item 1474825	NM_018941.4(CLN8):c.66G>C (p.Gly22=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2693723	NM_018941.4(CLN8):c.68_76del (p.Ile23_Ser25del)	CLN8	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 663610	NM_018941.4(CLN8):c.70C>T (p.Arg24Cys)	CLN8 (R24C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2802	NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)	CLN8 (R24G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +1 more	GPathogenic
Select item 2157339	NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)	CLN8 (R24L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 2056379	NM_018941.4(CLN8):c.71G>A (p.Arg24His)	CLN8 (R24H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 1093328	NM_018941.4(CLN8):c.72C>T (p.Arg24=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 799947	NM_018941.4(CLN8):c.75C>T (p.Ser25=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2693725	NM_018941.4(CLN8):c.76A>T (p.Thr26Ser)	CLN8 (T26S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1346763	NM_018941.4(CLN8):c.77C>G (p.Thr26Arg)	CLN8 (T26R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 409294	NM_018941.4(CLN8):c.77C>T (p.Thr26Met)	CLN8 (T26M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1539713	NM_018941.4(CLN8):c.78G>A (p.Thr26=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2663133	NM_018941.4(CLN8):c.80T>C (p.Leu27Pro)	CLN8 (L27P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1764012	NM_018941.4(CLN8):c.85G>T (p.Val29Phe)	CLN8 (V29F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1115955	NM_018941.4(CLN8):c.87C>T (p.Val29=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 423135	NM_018941.4(CLN8):c.88G>T (p.Ala30Ser)	CLN8 (A30S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392756	NM_018941.4(CLN8):c.88G>A (p.Ala30Thr)	CLN8 (A30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 56720	NM_018941.4(CLN8):c.88del (p.Ala30fs)	CLN8 (A30fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 8	GPathogenic/Likely pathogenic
Select item 2806	NM_018941.4(CLN8):c.88G>C (p.Ala30Pro)	CLN8 (A30P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8	GPathogenic
Select item 3018475	NM_018941.4(CLN8):c.90T>G (p.Ala30=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1127614	NM_018941.4(CLN8):c.90T>C (p.Ala30=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 521986	NM_018941.4(CLN8):c.92G>A (p.Gly31Asp)	CLN8 (G31D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2829803	NM_018941.4(CLN8):c.93C>T (p.Gly31=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 241290	NM_018941.4(CLN8):c.94T>C (p.Phe32Leu)	CLN8 (F32L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 195346	NM_018941.4(CLN8):c.94T>G (p.Phe32Val)	CLN8 (F32V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GUncertain significance
Select item 954887	NM_018941.4(CLN8):c.97G>C (p.Val33Leu)	CLN8 (V33L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 626088	NM_018941.4(CLN8):c.98T>C (p.Val33Ala)	CLN8 (V33A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 northern epilepsy variant +1 more	GUncertain significance
Select item 1659454	NM_018941.4(CLN8):c.102C>T (p.Phe34=)	CLN8	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1451868	NM_018941.4(CLN8):c.105C>G (p.Tyr35Ter)	CLN8 (Y35*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 527756	NM_018941.4(CLN8):c.106T>A (p.Leu36Met)	CLN8 (L36M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2019654	NM_018941.4(CLN8):c.109_112dup (p.Val38fs)	CLN8 (V38fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 409293	NM_018941.4(CLN8):c.108G>C (p.Leu36Phe)	CLN8 (L36F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 8 +1 more	GUncertain significance
Select item 1467537	NM_018941.4(CLN8):c.109G>A (p.Gly37Ser)	CLN8 (G37S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance

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