"Ambry Genetics"[submitter] AND "AAGAB"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235297	NM_024666.5(AAGAB):c.921A>C (p.Glu307Asp)	AAGAB (E198D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132124	NM_024666.5(AAGAB):c.917T>C (p.Ile306Thr)	AAGAB (I306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547226	NM_024666.5(AAGAB):c.854A>C (p.Lys285Thr)	AAGAB (K176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210974	NM_024666.5(AAGAB):c.830C>T (p.Ala277Val)	AAGAB (A168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619724	NM_024666.5(AAGAB):c.813A>T (p.Glu271Asp)	AAGAB (E162D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511830	NM_024666.5(AAGAB):c.722T>C (p.Met241Thr)	AAGAB (M132T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333877	NM_024666.5(AAGAB):c.701T>G (p.Val234Gly)	AAGAB (V125G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327327	NM_024666.5(AAGAB):c.701T>C (p.Val234Ala)	AAGAB (V125A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 871411	NM_024666.5(AAGAB):c.674G>A (p.Gly225Asp)	AAGAB (G116D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3258117	NM_024666.5(AAGAB):c.668G>C (p.Arg223Pro)	AAGAB (R114P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3131940	NM_024666.5(AAGAB):c.506A>G (p.Asn169Ser)	AAGAB (N169S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211104	NM_024666.5(AAGAB):c.482G>A (p.Arg161Gln)	AAGAB (R52Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332920	NM_024666.5(AAGAB):c.467C>G (p.Ser156Cys)	AAGAB (S156C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530458	NM_024666.5(AAGAB):c.410A>G (p.Glu137Gly)	AAGAB (E28G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481838	NM_024666.5(AAGAB):c.343G>A (p.Asp115Asn)	AAGAB (D6N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537795	NM_024666.5(AAGAB):c.326T>A (p.Val109Glu)	AAGAB (V109E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339748	NM_024666.5(AAGAB):c.313T>C (p.Trp105Arg)	AAGAB (W105R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3332030	NM_024666.5(AAGAB):c.274C>G (p.Leu92Val)	AAGAB (L92V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3259034	NM_024666.5(AAGAB):c.238T>C (p.Phe80Leu)	AAGAB (F80L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2274181	NM_024666.5(AAGAB):c.212C>G (p.Ala71Gly)	AAGAB (A71G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2601726	NM_024666.5(AAGAB):c.161A>G (p.Tyr54Cys)	AAGAB (Y54C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2266269	NM_024666.5(AAGAB):c.151A>G (p.Asn51Asp)	AAGAB (N51D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1562006	NM_024666.5(AAGAB):c.116A>G (p.Asn39Ser)	AAGAB (N39S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3334852	NM_024666.5(AAGAB):c.115A>T (p.Asn39Tyr)	AAGAB (N39Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2344954	NM_024666.5(AAGAB):c.100G>A (p.Val34Met)	AAGAB (V34M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2510172	NM_024666.5(AAGAB):c.41C>T (p.Ser14Phe)	AAGAB, LOC130057363 (S14F)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2341479	NM_024666.5(AAGAB):c.13G>A (p.Val5Ile)	AAGAB, LOC130057363 (V5I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2338594	NM_001031715.3(IQCH):c.24C>G (p.His8Gln)	AAGAB, IQCH (H8Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2388371	NM_001031715.3(IQCH):c.28C>T (p.Pro10Ser)	AAGAB, IQCH (P10S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance

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Items: 29