"GeneDx"[submitter] AND "AAGAB"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1283054	NM_024666.5(AAGAB):c.*237A>G	AAGAB	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183864	NM_024666.5(AAGAB):c.820+147dup	AAGAB	Duplication (intron variant)	not provided	GBenign
Select item 1257765	NM_024666.5(AAGAB):c.619-37C>T	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 1237371	NM_024666.5(AAGAB):c.618+208G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280017	NM_024666.5(AAGAB):c.618+18A>G	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 2500620	NM_024666.5(AAGAB):c.555C>A (p.Ser185Arg)	AAGAB (S185R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1264407	NM_024666.5(AAGAB):c.536-95G>A	AAGAB	Single nucleotide variant (intron variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 1284136	NM_024666.5(AAGAB):c.536-284T>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239423	NM_024666.5(AAGAB):c.535+267G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279128	NM_024666.5(AAGAB):c.452-146G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 803103	NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu)	AAGAB (I132L +1 more)	Single nucleotide variant (missense variant)	Palmoplantar keratoderma, punctate type 1A +1 more	GBenign
Select item 39733	NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter)	AAGAB (R124* +1 more)	Single nucleotide variant (nonsense)	Palmoplantar keratoderma, punctate type 1A +1 more	GPathogenic
Select item 1253044	NM_024666.5(AAGAB):c.362-144G>A	AAGAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231574	NM_024666.5(AAGAB):c.264+33A>G	AAGAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 620111	NM_024666.5(AAGAB):c.61C>T (p.Gln21Ter)	AAGAB, LOC130057363 (Q21*)	Single nucleotide variant (5 prime UTR variant +2 more)	Palmoplantar keratoderma, punctate type 1A +1 more	GPathogenic
Select item 1806821	NM_024666.5(AAGAB):c.29T>A (p.Val10Asp)	AAGAB, LOC130057363 (V10D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 969403	NM_024666.5(AAGAB):c.1A>G (p.Met1Val)	AAGAB, LOC130057363 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GPathogenic/Likely pathogenic
Select item 1235883	NM_001271885.2(AAGAB):c.-255+174G>T	AAGAB, IQCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic