NOTO[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 2265438	NM_001134462.2(NOTO):c.73G>A (p.Gly25Ser)	NOTO (G25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463741	NM_001134462.2(NOTO):c.234C>G (p.Phe78Leu)	NOTO (F78L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3201411	NM_001134462.2(NOTO):c.256G>T (p.Ala86Ser)	NOTO (A86S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592794	NM_001134462.2(NOTO):c.355T>C (p.Cys119Arg)	NOTO (C119R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201412	NM_001134462.2(NOTO):c.437C>T (p.Thr146Met)	NOTO (T146M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201413	NM_001134462.2(NOTO):c.457G>A (p.Glu153Lys)	NOTO (E153K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275138	NM_001134462.2(NOTO):c.510G>C (p.Glu170Asp)	NOTO (E170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550344	NM_001134462.2(NOTO):c.551A>C (p.Lys184Thr)	NOTO (K184T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514633	NM_001134462.2(NOTO):c.574C>T (p.Arg192Trp)	NOTO (R192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300519	NM_001134462.2(NOTO):c.583C>G (p.Leu195Val)	NOTO (L195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390800	NM_001134462.2(NOTO):c.601A>G (p.Arg201Gly)	NOTO (R201G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535126	NM_001134462.2(NOTO):c.638A>G (p.Lys213Arg)	NOTO (K213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201415	NM_001134462.2(NOTO):c.673G>C (p.Glu225Gln)	NOTO (E225Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373158	NM_001134462.2(NOTO):c.673G>A (p.Glu225Lys)	NOTO (E225K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401039	NM_001134462.2(NOTO):c.691G>A (p.Glu231Lys)	NOTO (E231K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207645	NM_001134462.2(NOTO):c.707C>T (p.Ser236Phe)	NOTO (S236F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258678	NM_001134462.2(NOTO):c.709A>G (p.Ile237Val)	NOTO (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393650	NM_001134462.2(NOTO):c.710T>A (p.Ile237Asn)	NOTO (I237N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523436	NM_001134462.2(NOTO):c.752G>A (p.Gly251Asp)	NOTO (G251D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	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 1056266	NC_000002.11:g.(?_73114549)_(73836749_?)dup	NOTO, ALMS1 +9 more	Duplication	Alstrom syndrome	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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

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Items: 32