NCL[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 2293474	NM_005381.3(NCL):c.2120C>T (p.Thr707Met)	LOC114004369, NCL (T707M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770513	NM_005381.3(NCL):c.2056+10G>A	LOC114004369, NCL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3338198	NM_005381.3(NCL):c.1991del (p.Gly664fs)	NCL (G664fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 2369276	NM_005381.3(NCL):c.1984G>A (p.Gly662Ser)	NCL (G662S)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3183261	NM_005381.3(NCL):c.1951G>T (p.Gly651Cys)	NCL (G651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790519	NM_005381.3(NCL):c.1887C>T (p.Ala629=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2609876	NM_005381.3(NCL):c.1863G>C (p.Glu621Asp)	NCL (E621D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783994	NM_005381.3(NCL):c.1755A>G (p.Glu585=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1239082	NM_005381.3(NCL):c.1706-18dup	NCL	Duplication (intron variant)	not provided	GBenign
Select item 3298814	NM_005381.3(NCL):c.1646A>G (p.Glu549Gly)	NCL (E549G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394806	NM_005381.3(NCL):c.1613A>C (p.Glu538Ala)	NCL (E538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319472	NM_005381.3(NCL):c.1606G>A (p.Ala536Thr)	NCL (A536T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712368	NM_005381.3(NCL):c.1605C>T (p.Asp535=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2615098	NM_005381.3(NCL):c.1592C>G (p.Ala531Gly)	NCL (A531G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651998	NM_005381.3(NCL):c.1572-3C>T	NCL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2214986	NM_005381.3(NCL):c.1552C>A (p.Gln518Lys)	NCL (Q518K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183244	NM_005381.3(NCL):c.1169G>A (p.Arg390Gln)	NCL (R390Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 755987	NM_005381.3(NCL):c.1089G>A (p.Ala363=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397054	NM_005381.3(NCL):c.1021G>A (p.Val341Ile)	NCL (V341I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183240	NM_005381.3(NCL):c.1004A>G (p.Asp335Gly)	NCL (D335G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718933	NM_005381.3(NCL):c.984C>T (p.Ser328=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183282	NM_005381.3(NCL):c.923A>G (p.Asn308Ser)	NCL (N308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298813	NM_005381.3(NCL):c.799G>A (p.Glu267Lys)	NCL (E267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720026	NM_005381.3(NCL):c.786GGA[2] (p.Glu271del)	NCL (E271del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2651999	NM_005381.3(NCL):c.780TGA[1] (p.Asp261del)	NCL (D261del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3183277	NM_005381.3(NCL):c.753A>T (p.Glu251Asp)	NCL (E251D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2652000	NM_005381.3(NCL):c.741CGA[3] (p.Asp250del)	NCL (D250del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2269853	NM_005381.3(NCL):c.748G>A (p.Asp250Asn)	NCL (D250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 753947	NM_005381.3(NCL):c.741C>T (p.Asp247=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778045	NM_005381.3(NCL):c.726T>C (p.Asp242=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2315970	NM_005381.3(NCL):c.714A>T (p.Glu238Asp)	NCL (E238D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183270	NM_005381.3(NCL):c.686C>T (p.Ala229Val)	NCL (A229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523472	NM_005381.3(NCL):c.641C>T (p.Thr214Ile)	NCL (T214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183265	NM_005381.3(NCL):c.597T>G (p.Asp199Glu)	NCL (D199E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 726319	NM_005381.3(NCL):c.594C>T (p.Asp198=)	NCL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723973	NM_005381.3(NCL):c.588G>C (p.Glu196Asp)	NCL (E196D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2301943	NM_005381.3(NCL):c.556G>T (p.Asp186Tyr)	NCL (D186Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547186	NM_005381.3(NCL):c.400G>T (p.Ala134Ser)	NCL (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767867	NM_005381.3(NCL):c.347A>C (p.Lys116Thr)	NCL (K116T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2244466	NM_005381.3(NCL):c.166G>A (p.Ala56Thr)	NCL (A56T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480961	NM_005381.3(NCL):c.136G>A (p.Val46Ile)	NCL (V46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SP140L, SPATA3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic

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Items: 69