LOC130008688[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 1434403	NM_213595.4(ISCU):c.79G>C (p.Glu27Gln)	ISCU, LOC130008688 (E27Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2582121	NM_213595.4(ISCU):c.81G>C (p.Glu27Asp)	ISCU, LOC130008688 (E27D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2256831	NM_213595.4(ISCU):c.85T>G (p.Ser29Ala)	ISCU, LOC130008688 (S29A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2974932	NM_213595.4(ISCU):c.87G>T (p.Ser29=)	ISCU, LOC130008688	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 806931	NM_213595.4(ISCU):c.89C>T (p.Ala30Val)	ISCU, LOC130008688 (A30V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1560056	NM_213595.4(ISCU):c.90C>T (p.Ala30=)	LOC130008688, ISCU	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1698249	NM_213595.4(ISCU):c.92C>T (p.Pro31Leu)	ISCU, LOC130008688 (P31L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 214556	NM_213595.4(ISCU):c.100C>T (p.Leu34Phe)	ISCU, LOC130008688 (L34F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1600022	NM_213595.4(ISCU):c.110A>G (p.Lys37Arg)	ISCU, LOC130008688 (K37R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 2814908	NM_213595.4(ISCU):c.114+13G>A	ISCU, LOC130008688	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214554	NM_213595.4(ISCU):c.114+17dup	ISCU, LOC130008688	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1542477	NM_213595.4(ISCU):c.114+16_114+17insC	ISCU, LOC130008688	Insertion (intron variant)	not provided	GLikely benign
Select item 2986490	NM_213595.4(ISCU):c.114+17_114+18insT	ISCU, LOC130008688	Insertion (intron variant)	not provided	GLikely benign
Select item 1941371	NM_213595.4(ISCU):c.114+20G>T	ISCU, LOC130008688	Single nucleotide variant (intron variant)	not provided	GLikely benign