LOC129932866[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 2473288	NM_003272.4(GPR137B):c.14G>T (p.Arg5Leu)	GPR137B, LOC129932866 (R5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301971	NM_003272.4(GPR137B):c.40G>A (p.Gly14Ser)	GPR137B, LOC129932866 (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228487	NM_003272.4(GPR137B):c.65A>G (p.Asp22Gly)	GPR137B, LOC129932866 (D22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101416	NM_003272.4(GPR137B):c.113C>A (p.Pro38His)	GPR137B, LOC129932866 (P38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456280	NM_003272.4(GPR137B):c.131G>C (p.Gly44Ala)	GPR137B, LOC129932866 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235009	NM_003272.4(GPR137B):c.146A>C (p.Tyr49Ser)	GPR137B, LOC129932866 (Y49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 22