LOC130004379[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 2237161	NM_001134658.3(SLC35G1):c.44C>T (p.Pro15Leu)	LOC130004379, SLC35G1 (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207817	NM_001134658.3(SLC35G1):c.55C>A (p.Leu19Ile)	LOC130004379, SLC35G1 (L19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397437	NM_001134658.3(SLC35G1):c.77G>T (p.Gly26Val)	LOC130004379, SLC35G1 (G26V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3164450	NM_001134658.3(SLC35G1):c.85G>A (p.Glu29Lys)	LOC130004379, SLC35G1 (E29K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613110	NM_001134658.3(SLC35G1):c.109G>C (p.Ala37Pro)	LOC130004379, SLC35G1 (A37P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347820	NM_001134658.3(SLC35G1):c.132G>T (p.Arg44Ser)	LOC130004379, SLC35G1 (R44S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2231399	NM_001134658.3(SLC35G1):c.152C>T (p.Ser51Leu)	LOC130004379, SLC35G1 (S51L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance