LOC130064611[gene] - ClinVar - NCBI

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Items: 11

	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 545227	Single allele	LOC130064626, LOC130064627 +215 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 60277	GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	PHLDB3, PINLYP +55 more	Copy number gain	See cases	GUncertain significance
Select item 735664	NM_019108.4(SMG9):c.336C>T (p.Ala112=)	LOC130064611, SMG9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309815	NM_019108.4(SMG9):c.308C>T (p.Pro103Leu)	LOC130064611, SMG9 (P103L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320966	NM_019108.4(SMG9):c.263C>T (p.Pro88Leu)	LOC130064611, SMG9 (P88L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526691	NM_019108.4(SMG9):c.251C>A (p.Ala84Asp)	LOC130064611, SMG9 (A84D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166551	NM_019108.4(SMG9):c.248C>T (p.Thr83Ile)	LOC130064611, SMG9 (T83I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252958	NM_019108.4(SMG9):c.247A>G (p.Thr83Ala)	LOC130064611, SMG9 (T83A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229592	NM_019108.4(SMG9):c.226-3T>C	LOC130064611, SMG9	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 755327	NM_019108.4(SMG9):c.226-5C>T	LOC130064611, SMG9	Single nucleotide variant (intron variant)	not provided	GLikely benign