ClinVar for Gene (Select 6142) - ClinVar - NCBI

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Links from Gene

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 2602143	NM_000980.4(RPL18A):c.413G>A (p.Arg138His)	RPL18A (R138H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531917	NM_000980.4(RPL18A):c.32A>G (p.Lys11Arg)	RPL18A (K11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515728	NM_000980.4(RPL18A):c.412C>T (p.Arg138Cys)	RPL18A (R138C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489830	NM_000980.4(RPL18A):c.92G>A (p.Arg31Gln)	RPL18A (R31Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2396136	NM_000980.4(RPL18A):c.398C>T (p.Ala133Val)	RPL18A (A133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308416	NM_000980.4(RPL18A):c.10T>G (p.Ser4Ala)	RPL18A (S4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1409213	NC_000019.9:g.(?_17927663)_(17983505_?)dup	INSL3, JAK3 +2 more	Duplication	T-B+ severe combined immunodeficiency due to JAK3 deficiency	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 980193	GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3	RPL18A, NIBAN3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 687270	GRCh37/hg19 19p13.11(chr19:17921282-18025754)x3	B3GNT3, INSL3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic