"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CLN5"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 649631	NC_000013.11:g.(?_76991932)_(77000989_?)del	CLN5, LOC126861804 +1 more	Deletion	Neuronal ceroid lipofuscinosis	GPathogenic
Select item 554902	NC_000013.11:g.76991952A>C	CLN5	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205134	NC_000013.11:g.76991953T>A	CLN5	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 166884	NM_006493.4(CLN5):c.-146T>C	CLN5	Single nucleotide variant	CLN5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 128782	NM_006493.4(CLN5):c.-144C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +5 more	GBenign
Select item 2045537	NC_000013.11:g.76991957C>G	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 205135	NM_006493.4(CLN5):c.-141C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 2109422	NM_006493.2(CLN5):c.10_22delAACCTGCGCTTGG (p.Asn4Glyfs)	CLN5	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1455299	NC_000013.11:g.76991960G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1501450	NC_000013.11:g.76991961A>T	CLN5 (N4Y)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2107977	NC_000013.11:g.76991966G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1545241	NC_000013.11:g.76991966G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1713862	NC_000013.11:g.76991967C>A	CLN5 (R6S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 661654	NC_000013.11:g.76991968G>T	CLN5 (R6L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1657505	NC_000013.11:g.76991969C>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1612774	NC_000013.11:g.76991969C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 3010377	NC_000013.11:g.76991970T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2070797	NC_000013.11:g.76991971T>C	CLN5 (L7S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205122	NC_000013.11:g.76991973G>C	CLN5	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193341	NM_006493.3(CLN5):c.-126G>T (p.Gly8Trp)	CLN5	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 1430492	NC_000013.11:g.76991974G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2860237	NC_000013.11:g.76991975G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 515004	NC_000013.11:g.76991975G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 2415686	NC_000013.11:g.76991976C>A	CLN5 (P9T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 573164	NM_006493.4(CLN5):c.-123C>T	CLN5	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 2008395	NC_000013.11:g.76991982T>A	CLN5 (S11T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1930642	NC_000013.11:g.76991982T>G	CLN5 (S11A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1010412	NC_000013.11:g.76991982T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2148449	NC_000013.11:g.76991983C>G	CLN5 (S11C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2131763	NC_000013.11:g.76991984T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1439867	NC_000013.11:g.76991986G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 577247	NM_006493.4(CLN5):c.-113G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2094215	NC_000013.11:g.76991987A>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2757014	NC_000013.11:g.76991990T>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 729806	NM_006493.4(CLN5):c.-109T>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1391726	NC_000013.11:g.76991993C>G	CLN5 (D14E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1113031	NC_000013.11:g.76991993C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2845804	NC_000013.11:g.76991996G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2141261	NC_000013.11:g.76991996G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 703743	NM_006493.4(CLN5):c.-103G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2790860	NC_000013.11:g.76991999G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 813489	NM_006493.4(CLN5):c.-97del	CLN5	Deletion	not provided +3 more	GConflicting classifications of pathogenicity
Select item 964504	NM_006493.4(CLN5):c.-99G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205123	NM_006493.4(CLN5):c.-99G>C	CLN5	Single nucleotide variant	not provided +5 more	GConflicting classifications of pathogenicity
Select item 854290	NC_000013.11:g.76992001G>A	CLN5 (G17E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2766299	NC_000013.11:g.76992002G>T	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1960114	NC_000013.11:g.76992002G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 699547	NC_000013.11:g.76992002G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 962497	NM_006493.4(CLN5):c.-96C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 421520	NM_006493.4(CLN5):c.-96C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis 5 +2 more	GUncertain significance
Select item 205136	NC_000013.11:g.76992003C>A	CLN5	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 845413	NC_000013.11:g.76992004A>G	CLN5 (Q18R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2849207	NC_000013.11:g.76992005A>C	CLN5 (Q18H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 835320	NM_006493.4(CLN5):c.-94A>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 377689	NC_000013.11:g.76992005A>G	CLN5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 387082	NC_000013.11:g.76992008C>A	CLN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193342	NM_006493.4(CLN5):c.-87C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +4 more	GBenign/Likely benign
Select item 1059382	NC_000013.11:g.76992013C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 457965	NM_006493.4(CLN5):c.-86C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1627433	NC_000013.11:g.76992014G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2180029	NC_000013.11:g.76992015C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1947707	NC_000013.11:g.76992015C>G	CLN5 (R22G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 643424	NM_006493.4(CLN5):c.-84C>A	CLN5	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 409276	NM_006493.4(CLN5):c.-83G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1573388	NC_000013.11:g.76992020C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1139924	NC_000013.11:g.76992020C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 643425	NM_006493.4(CLN5):c.-78G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1550319	NC_000013.11:g.76992023A>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 95398	NM_006493.4(CLN5):c.-76A>G	CLN5	Single nucleotide variant	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive +5 more	GBenign/Likely benign
Select item 949633	NM_006493.4(CLN5):c.-75C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1438672	NC_000013.11:g.76992025T>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 527732	NM_006493.4(CLN5):c.-74T>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1654130	NC_000013.11:g.76992026G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1525826	NC_000013.11:g.76992027G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2766300	NC_000013.11:g.76992029G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1616991	NC_000013.11:g.76992029G>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1064333	NC_000013.11:g.76992031C>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2176209	NC_000013.11:g.76992033C>T	CLN5 (P28S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1494180	NC_000013.11:g.76992036C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1467983	NC_000013.11:g.76992041_76992352del	CLN5, LOC130009913	Deletion	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1363764	NC_000013.11:g.76992041G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1646057	NC_000013.11:g.76992044C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1144682	NC_000013.11:g.76992047C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1665470	NC_000013.11:g.76992050A>C	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1716397	NC_000013.11:g.76992052C>A	CLN5 (P34Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 409277	NM_006493.4(CLN5):c.-47C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2790268	NC_000013.11:g.76992053G>C	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1910342	NC_000013.11:g.76992053G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2194019	NC_000013.11:g.76992055C>T	CLN5 (A35V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1087869	NC_000013.11:g.76992056G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2190456	NC_000013.11:g.76992058C>A	CLN5 (S36*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1945047	NC_000013.11:g.76992058C>T	CLN5 (S36L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1595410	NC_000013.11:g.76992059G>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 795471	NC_000013.11:g.76992062G>A	CLN5	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1522577	NC_000013.11:g.76992063G>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1607484	NC_000013.11:g.76992065C>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1432934	NC_000013.11:g.76992066T>G	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1398562	NC_000013.11:g.76992066T>A	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1482216	NC_000013.11:g.76992067C>T	CLN5	Single nucleotide variant	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205138	NC_000013.11:g.76992067C>A	CLN5	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GConflicting classifications of pathogenicity

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