LOC130063952[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155504	GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1	ABHD8, ANKLE1 +64 more	Copy number loss	See cases	GUncertain significance
Select item 153111	GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1	ANO8, BISPR +46 more	Copy number loss	See cases	GUncertain significance
Select item 2243995	NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)	COLGALT1, LOC130063952 (R9fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1993296	NM_024656.4(COLGALT1):c.20C>G (p.Ala7Gly)	COLGALT1, LOC130063952 (A7G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114953	NM_024656.4(COLGALT1):c.31C>G (p.Arg11Gly)	COLGALT1, LOC130063952 (R11G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3147878	NM_024656.4(COLGALT1):c.34G>C (p.Gly12Arg)	COLGALT1, LOC130063952 (G12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973108	NM_024656.4(COLGALT1):c.40C>T (p.Pro14Ser)	COLGALT1, LOC130063952 (P14S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3147884	NM_024656.4(COLGALT1):c.65T>C (p.Leu22Pro)	COLGALT1, LOC130063952 (L22P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2749974	NM_024656.4(COLGALT1):c.72G>C (p.Ala24=)	COLGALT1, LOC130063952	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107765	NM_024656.4(COLGALT1):c.86G>T (p.Gly29Val)	COLGALT1, LOC130063952 (G29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031171	NM_024656.4(COLGALT1):c.96G>A (p.Pro32=)	COLGALT1, LOC130063952	Single nucleotide variant (synonymous variant)	COLGALT1-related disorder	GLikely benign
Select item 1971578	NM_024656.4(COLGALT1):c.98G>T (p.Gly33Val)	COLGALT1, LOC130063952 (G33V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign