ClinVar for MedGen (Select 1794137) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1726067	NM_017882.3(CLN6):c.322del (p.Leu108fs)	CLN6 (L108fs)	Deletion (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GLikely pathogenic
Select item 1724835	NM_017882.3(CLN6):c.385dup (p.Val129fs)	CLN6 (V129fs)	Duplication (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GLikely pathogenic
Select item 1724445	NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)	CLN6 (I126fs)	Indel (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GLikely pathogenic
Select item 1436886	NM_017882.3(CLN6):c.919G>A (p.Val307Ile)	CLN6 (V307I)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +2 more	GUncertain significance
Select item 1326899	NM_017882.3(CLN6):c.350T>G (p.Ile117Ser)	CLN6 (I117S)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	GPathogenic
Select item 1056860	NM_017882.3(CLN6):c.338C>T (p.Thr113Met)	CLN6 (T113M)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GConflicting classifications of pathogenicity
Select item 1015733	NM_017882.3(CLN6):c.317G>A (p.Arg106His)	CLN6 (R106H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GUncertain significance
Select item 1015622	NM_017882.3(CLN6):c.506T>A (p.Leu169His)	CLN6 (L169H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GConflicting classifications of pathogenicity
Select item 961382	NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)	CLN6 (G259S)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +4 more	GConflicting classifications of pathogenicity
Select item 699191	NM_017882.3(CLN6):c.717C>T (p.Phe239=)	CLN6	Single nucleotide variant (synonymous variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +2 more	GLikely benign
Select item 656898	NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)	CLN6 (R136C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic
Select item 589880	NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)	CLN6 (Y142C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +1 more	GConflicting classifications of pathogenicity
Select item 555430	NM_017882.3(CLN6):c.486+1G>A	CLN6	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis +3 more	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 +3 more	GPathogenic/Likely pathogenic
Select item 523022	NM_017882.3(CLN6):c.185G>A (p.Arg62His)	CLN6 (R62H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +2 more	GConflicting classifications of pathogenicity
Select item 522639	NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)	CLN6 (P159L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 457976	NM_017882.3(CLN6):c.754C>T (p.Arg252Cys)	CLN6 (R252C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +2 more	GUncertain significance
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)	Ceroid lipofuscinosis, neuronal, 6A +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)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity
Select item 205182	NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)	CLN6 (S265del)	Microsatellite (inframe_deletion)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 205179	NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	CLN6 (E2G)	Single nucleotide variant (missense variant)	not provided +4 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 205162	NM_017882.3(CLN6):c.255C>G (p.Phe85Leu)	CLN6 (F85L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 198573	NM_017882.3(CLN6):c.923G>C (p.Ser308Thr)	CLN6 (S308T)	Single nucleotide variant (missense variant)	Adult neuronal ceroid lipofuscinosis +7 more	GConflicting classifications of pathogenicity
Select item 196481	NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)	CLN6 (E72Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 136802	NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)	CLN6 (A12T)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 128785	NM_017882.3(CLN6):c.298-6C>T	CLN6	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis +3 more	GBenign/Likely benign
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 30602	NM_017882.3(CLN6):c.17G>C (p.Arg6Thr)	CLN6 (R6T)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	GPathogenic
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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30599	NM_017882.3(CLN6):c.200T>C (p.Leu67Pro)	CLN6 (L67P)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	GPathogenic
Select item 4083	NC_000015.9:g.68504037_68504039delGAT	CLN6 (I154del)	Microsatellite (inframe_deletion)	See cases +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, 6A +4 more	GPathogenic

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Items: 37