LOC129932342[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2552388	NM_182663.4(RASSF5):c.94G>C (p.Glu32Gln)	LOC129932342, RASSF5 (E32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151939	NM_182663.4(RASSF5):c.110C>T (p.Pro37Leu)	LOC129932342, RASSF5 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302778	NM_182663.4(RASSF5):c.112C>G (p.Pro38Ala)	LOC129932342, RASSF5 (P38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151940	NM_182663.4(RASSF5):c.130C>T (p.Leu44Phe)	LOC129932342, RASSF5 (L44F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403209	NM_182663.4(RASSF5):c.134G>T (p.Cys45Phe)	LOC129932342, RASSF5 (C45F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255095	NM_182663.4(RASSF5):c.140C>T (p.Pro47Leu)	LOC129932342, RASSF5 (P47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539720	NM_182663.4(RASSF5):c.145C>A (p.Pro49Thr)	LOC129932342, RASSF5 (P49T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151941	NM_182663.4(RASSF5):c.160C>T (p.Pro54Ser)	LOC129932342, RASSF5 (P54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312984	NM_182663.4(RASSF5):c.167C>A (p.Ala56Glu)	LOC129932342, RASSF5 (A56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410999	NM_182663.4(RASSF5):c.167C>G (p.Ala56Gly)	LOC129932342, RASSF5 (A56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151942	NM_182663.4(RASSF5):c.178C>G (p.Arg60Gly)	LOC129932342, RASSF5 (R60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151943	NM_182663.4(RASSF5):c.184G>A (p.Ala62Thr)	LOC129932342, RASSF5 (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455833	NM_182663.4(RASSF5):c.202G>T (p.Gly68Trp)	LOC129932342, RASSF5 (G68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance