"Ambry Genetics"[submitter] AND "NIBAN3"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539744	NM_001321827.2(NIBAN3):c.-56G>A	NIBAN3 (G13E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485121	NM_001321827.2(NIBAN3):c.212G>A (p.Arg71Gln)	NIBAN3 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491113	NM_001321827.2(NIBAN3):c.277G>A (p.Gly93Arg)	NIBAN3 (G93R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467116	NM_001321827.2(NIBAN3):c.287G>A (p.Arg96His)	NIBAN3 (R127H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472150	NM_001321827.2(NIBAN3):c.554G>C (p.Trp185Ser)	NIBAN3 (W185S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491769	NM_001321827.2(NIBAN3):c.1060C>A (p.Arg354Ser)	NIBAN3 (R385S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464252	NM_001321827.2(NIBAN3):c.1136G>T (p.Arg379Leu)	NIBAN3 (R136L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487262	NM_001321827.2(NIBAN3):c.1168G>C (p.Glu390Gln)	NIBAN3 (E421Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456150	NM_001321827.2(NIBAN3):c.1171G>C (p.Val391Leu)	NIBAN3 (V422L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596792	NM_001321827.2(NIBAN3):c.1237C>T (p.Arg413Trp)	NIBAN3 (R413W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613291	NM_001321827.2(NIBAN3):c.1243C>T (p.Arg415Trp)	NIBAN3 (R172W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551783	NM_001321827.2(NIBAN3):c.1346T>C (p.Val449Ala)	NIBAN3 (V480A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619040	NM_001321827.2(NIBAN3):c.1369G>T (p.Asp457Tyr)	NIBAN3 (D214Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458290	NM_001321827.2(NIBAN3):c.1465G>A (p.Gly489Arg)	NIBAN3 (G489R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486836	NM_001321827.2(NIBAN3):c.1550A>G (p.Lys517Arg)	NIBAN3 (K517R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525738	NM_001321827.2(NIBAN3):c.1600G>T (p.Ala534Ser)	NIBAN3 (A498S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590544	NM_001321827.2(NIBAN3):c.1630G>A (p.Val544Ile)	NIBAN3 (V544I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610758	NM_001321827.2(NIBAN3):c.*1627C>A	NIBAN3 (H655N +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470136	NM_001321827.2(NIBAN3):c.*1628A>G	NIBAN3 (H655R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance