"ABCA13-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635850	NM_152701.5(ABCA13):c.287+5G>A	ABCA13	Single nucleotide variant (intron variant)	ABCA13-related disorder	GUncertain significance
Select item 3040350	NM_152701.5(ABCA13):c.479A>G (p.Asn160Ser)	ABCA13 (N160S)	Single nucleotide variant (missense variant)	ABCA13-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3047587	NM_152701.5(ABCA13):c.1150G>A (p.Glu384Lys)	ABCA13 (E384K)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GLikely benign
Select item 2657467	NM_152701.5(ABCA13):c.1499C>T (p.Ala500Val)	ABCA13, LOC126860027 (A500V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3045142	NM_152701.5(ABCA13):c.2378T>G (p.Leu793Arg)	ABCA13 (L793R)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GLikely benign
Select item 778021	NM_152701.5(ABCA13):c.3460T>G (p.Trp1154Gly)	ABCA13 (W1154G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2355940	NM_152701.5(ABCA13):c.3737A>G (p.Lys1246Arg)	ABCA13 (K1246R)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3049611	NM_152701.5(ABCA13):c.4078G>A (p.Asp1360Asn)	ABCA13 (D1360N)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2353980	NM_152701.5(ABCA13):c.4591G>A (p.Glu1531Lys)	ABCA13 (E1531K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2657477	NM_152701.5(ABCA13):c.7628A>G (p.His2543Arg)	ABCA13 (H2543R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2657479	NM_152701.5(ABCA13):c.7823T>G (p.Ile2608Arg)	ABCA13 (I2608R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2635668	NM_152701.5(ABCA13):c.7937A>C (p.Lys2646Thr)	ABCA13 (K2646T)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GUncertain significance
Select item 2634908	NM_152701.5(ABCA13):c.8542C>T (p.Leu2848Phe)	ABCA13 (L2848F)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GUncertain significance
Select item 2657482	NM_152701.5(ABCA13):c.9221T>A (p.Met3074Lys)	ABCA13, LOC126860028 (M3074K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 787670	NM_152701.5(ABCA13):c.9844A>G (p.Ile3282Val)	ABCA13 (I3282V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2657486	NM_152701.5(ABCA13):c.10181T>A (p.Leu3394His)	ABCA13 (L3394H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3051732	NM_152701.5(ABCA13):c.12459+1G>T	ABCA13	Single nucleotide variant (splice donor variant)	ABCA13-related disorder	GLikely benign
Select item 3045753	NM_152701.5(ABCA13):c.13768C>T (p.Arg4590Trp)	ABCA13 (R4590W)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GLikely benign