LOC130004821[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	LOC126861050, LOC126861051 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57911	GRCh38/hg38 10q26.11(chr10:118832386-119400019)x3	DENND10, EIF3A +36 more	Copy number gain	See cases	GUncertain significance
Select item 2388830	NM_199461.4(NANOS1):c.190G>A (p.Gly64Ser)	LOC130004821, NANOS1 (G64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534302	NM_199461.4(NANOS1):c.209A>G (p.Asn70Ser)	LOC130004821, NANOS1 (N70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476716	NM_199461.4(NANOS1):c.224C>T (p.Ser75Phe)	LOC130004821, NANOS1 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 65390	NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del)	LOC130004821, NANOS1 (S83del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 768395	NM_199461.4(NANOS1):c.235T>A (p.Ser79Thr)	LOC130004821, NANOS1 (S79T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2336724	NM_199461.4(NANOS1):c.242C>T (p.Ser81Leu)	LOC130004821, NANOS1 (S81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225028	NM_199461.4(NANOS1):c.262C>A (p.His88Asn)	LOC130004821, NANOS1 (H88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398630	NM_199461.4(NANOS1):c.263A>C (p.His88Pro)	LOC130004821, NANOS1 (H88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534303	NM_199461.4(NANOS1):c.265A>G (p.Thr89Ala)	LOC130004821, NANOS1 (T89A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174609	NM_199461.4(NANOS1):c.274G>A (p.Gly92Arg)	LOC130004821, NANOS1 (G92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495326	NM_199461.4(NANOS1):c.281G>C (p.Gly94Ala)	LOC130004821, NANOS1 (G94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498471	NM_199461.4(NANOS1):c.283GCGCTGGGGCCG[1] (p.95ALGP[1])	LOC130004821, NANOS1	Microsatellite (inframe_deletion)	not provided	GLikely benign