LOC126807040[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148977	GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3	APBB2, ATP8A1 +160 more	Copy number gain	See cases	GUncertain significance
Select item 3152415	NM_001098634.2(RBM47):c.1765G>T (p.Val589Phe)	LOC126807040, RBM47 (V520F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313923	NM_001098634.2(RBM47):c.1760C>T (p.Pro587Leu)	LOC126807040, RBM47 (P549L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593903	NM_001098634.2(RBM47):c.1732C>T (p.Pro578Ser)	LOC126807040, RBM47 (P509S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556701	NM_001098634.2(RBM47):c.1726G>A (p.Ala576Thr)	LOC126807040, RBM47 (A507T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313299	NM_001098634.2(RBM47):c.1725G>C (p.Gln575His)	LOC126807040, RBM47 (Q506H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354460	NM_001098634.2(RBM47):c.1674C>A (p.Asn558Lys)	LOC126807040, RBM47 (N520K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343849	NM_001098634.2(RBM47):c.1674C>G (p.Asn558Lys)	LOC126807040, RBM47 (N558K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257599	NM_001098634.2(RBM47):c.1612G>A (p.Gly538Arg)	LOC126807040, RBM47 (G469R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2306171	NM_001098634.2(RBM47):c.1610A>G (p.Tyr537Cys)	LOC126807040, RBM47 (Y499C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620386	NM_001098634.2(RBM47):c.1564T>C (p.Tyr522His)	LOC126807040, RBM47 (Y522H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259320	NM_001098634.2(RBM47):c.1552A>G (p.Ile518Val)	LOC126807040, RBM47 (I449V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance