ClinVar for MedGen (Select 1790423) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065628	NM_017882.3(CLN6):c.843G>A (p.Trp281Ter)	CLN6 (W281* +1 more)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 3065115	NM_017882.3(CLN6):c.934T>C (p.Ter312Arg)	CLN6	Single nucleotide variant (stop lost)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 2671681	NM_017882.3(CLN6):c.883T>C (p.Tyr295His)	CLN6 (Y295H +1 more)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 2627623	NM_017882.3(CLN6):c.278C>A (p.Thr93Lys)	CLN6 (T125K +1 more)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 2583179	NM_017882.3(CLN6):c.195dup (p.Met66fs)	CLN6 (M66fs +1 more)	Duplication (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 1802206	NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)	CLN6 (K131N +1 more)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 1726067	NM_017882.3(CLN6):c.322del (p.Leu108fs)	CLN6 (L108fs)	Deletion (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 1724835	NM_017882.3(CLN6):c.385dup (p.Val129fs)	CLN6 (V129fs)	Duplication (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 1724445	NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)	CLN6 (I126fs)	Indel (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 1676843	NM_017882.3(CLN6):c.158T>G (p.Leu53Arg)	CLN6 (L53R)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 1436886	NM_017882.3(CLN6):c.919G>A (p.Val307Ile)	CLN6 (V307I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 1199253	NM_017882.3(CLN6):c.896C>A (p.Pro299His)	CLN6 (P299H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 1184730	NM_017882.3(CLN6):c.296A>G (p.Lys99Arg)	CLN6	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1184729	NM_017882.3(CLN6):c.218_220dup (p.Trp73dup)	CLN6	Duplication (inframe_insertion)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 1184006	NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)	CLN6 (Y295C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 1064454	NM_017882.3(CLN6):c.514T>C (p.Tyr172His)	CLN6 (Y172H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 1059430	NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)	CLN6 (S104F)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GConflicting classifications of pathogenicity
Select item 1029493	NM_017882.3(CLN6):c.723G>T (p.Met241Ile)	CLN6 (M241I)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 1029492	NM_017882.3(CLN6):c.437T>C (p.Leu146Pro)	CLN6 (L146P)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GConflicting classifications of pathogenicity
Select item 1015733	NM_017882.3(CLN6):c.317G>A (p.Arg106His)	CLN6 (R106H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 984030	NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)	CLN6 (W73*)	Single nucleotide variant (nonsense)	Adult neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 984029	NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)	CLN6 (Q143*)	Single nucleotide variant (nonsense)	Adult neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 984028	NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)	CLN6 (E167*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GLikely pathogenic
Select item 961382	NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	CLN6 (G259S)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GConflicting classifications of pathogenicity
Select item 918012	NM_017882.3(CLN6):c.587G>T (p.Cys196Phe)	CLN6 (C196F)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 870555	NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser)	CLN6 (Y220S)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 813907	NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys)	CLN6 (Y221C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 699191	NM_017882.3(CLN6):c.717C>T (p.Phe239=)	CLN6	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +2 more	GLikely benign
Select item 623397	NM_017882.3(CLN6):c.83G>A (p.Arg28Lys)	CLN6 (R28K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 579778	NM_017882.3(CLN6):c.41G>A (p.Gly14Asp)	CLN6 (G14D)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 560343	NM_017882.3(CLN6):c.250T>A (p.Tyr84Asn)	CLN6 (Y84N)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 560342	NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)	CLN6 (Y221S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 560341	NM_017882.3(CLN6):c.552dup (p.Phe185fs)	CLN6 (F185fs)	Duplication (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 560340	NM_017882.3(CLN6):c.198+104T>C	CLN6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 557725	NM_017882.3(CLN6):c.498dup (p.Glu167Ter)	CLN6 (E167*)	Duplication (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 557577	NM_017882.3(CLN6):c.766_770del (p.Asp256fs)	CLN6 (D256fs)	Deletion (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 556845	NM_017882.3(CLN6):c.1A>G (p.Met1Val)	CLN6 (M1V)	Single nucleotide variant (missense variant +1 more)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 556824	NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)	CLN6 (Y303*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 556613	NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)	CLN6 (F263fs)	Microsatellite (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 556320	NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)	CLN6 (W279*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 555918	NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)	CLN6 (G259C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 555652	NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)	CLN6 (Y170C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 555533	NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)	CLN6 (F234L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 555430	NM_017882.3(CLN6):c.486+1G>A	CLN6	Single nucleotide variant (splice donor variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GLikely pathogenic
Select item 554596	NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	CLN6 (R62C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GConflicting classifications of pathogenicity
Select item 553963	NM_017882.3(CLN6):c.542+1G>T	CLN6	Single nucleotide variant (splice donor variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 552943	NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)	CLN6 (S125G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 552060	NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)	CLN6 (L169P)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 551500	NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)	CLN6 (W181*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 551495	NM_017882.3(CLN6):c.83+2T>G	CLN6	Single nucleotide variant (intron variant +1 more)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 550973	NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	CLN6 (P299L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GPathogenic/Likely pathogenic
Select item 550772	NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)	CLN6 (W222*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 549959	NM_017882.3(CLN6):c.443T>A (p.Val148Asp)	CLN6 (V148D)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 523022	NM_017882.3(CLN6):c.185G>A (p.Arg62His)	CLN6 (R62H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GConflicting classifications of pathogenicity
Select item 522725	NM_017882.3(CLN6):c.297+113G>C	CLN6	Single nucleotide variant (intron variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 522701	NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)	CLN6 (E227K)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GConflicting classifications of pathogenicity
Select item 522639	NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	CLN6 (P159L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +3 more	GConflicting classifications of pathogenicity
Select item 498240	NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)	CLN6 (R103W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 457976	NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)	CLN6 (R252C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 457969	NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	CLN6 (R5W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 452272	NM_017882.3(CLN6):c.482C>T (p.Thr161Met)	CLN6 (T161M)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +5 more	GUncertain significance
Select item 424727	NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]			Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 402184	NM_017882.3(CLN6):c.407G>A (p.Arg136His)	CLN6 (R136H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +4 more	GConflicting classifications of pathogenicity
Select item 374774	NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	CLN6 (W300R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 316994	NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)	CLN6 (I119del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GUncertain significance
Select item 219176	NM_017882.3(CLN6):c.775G>C (p.Gly259Arg)	CLN6 (G259R)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 205182	NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	CLN6 (S265del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GConflicting classifications of pathogenicity
Select item 205180	NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)	CLN6 (G17S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 205179	NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	CLN6 (E2G)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GConflicting classifications of pathogenicity
Select item 205176	NM_017882.3(CLN6):c.755G>A (p.Arg252His)	CLN6 (R252H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 205174	NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	CLN6 (A243V)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GUncertain significance
Select item 205165	NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)	CLN6 (E102K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 205162	NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)	CLN6 (F85L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +7 more	GConflicting classifications of pathogenicity
Select item 193389	NM_017882.3(CLN6):c.53C>T (p.Ala18Val)	CLN6 (A18V)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 136802	NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	CLN6 (A12T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +5 more	GConflicting classifications of pathogenicity
Select item 128787	NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)	CLN6 (K201E)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 128786	NM_017882.3(CLN6):c.486+8C>T	CLN6	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 100731	NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	SMPD1 (G247S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 68098	NM_017882.3(CLN6):c.890del (p.Pro297fs)	CLN6 (P297fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +2 more	GUncertain significance
Select item 68094	NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	CLN6 (Y50*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 30601	NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	CLN6 (L47F)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 30600	NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	CLN6 (R103Q)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GConflicting classifications of pathogenicity
Select item 4086	NM_017882.3(CLN6):c.268_271dup (p.Val91fs)	CLN6 (V91fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 4085	NM_017882.3(CLN6):c.542+5G>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 4084	NM_017882.3(CLN6):c.663C>G (p.Tyr221Ter)	CLN6 (Y221*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 4083	NC_000015.9:g.68504037_68504039delGAT	CLN6 (I154del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GPathogenic/Likely pathogenic
Select item 4082	NM_017882.3(CLN6):c.395_396del (p.Ser132fs)	CLN6 (S132fs)	Microsatellite (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GPathogenic
Select item 4081	NM_017882.3(CLN6):c.316dup (p.Arg106fs)	CLN6 (R106fs)	Duplication (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GPathogenic
Select item 4080	NM_017882.3(CLN6):c.7del (p.Ala3fs)	CLN6 (A3fs)	Deletion (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 4079	NM_017882.3(CLN6):c.368G>A (p.Gly123Asp)	CLN6 (G123D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 4078	NM_017882.3(CLN6):c.511TAT[1] (p.Tyr172del)	CLN6 (Y172del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6A	GPathogenic
Select item 4077	NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	CLN6 (E72*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic

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Items: 95