"Ambry Genetics"[submitter] AND "EXD2"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2456730	NM_001193360.2(EXD2):c.88C>T (p.Arg30Cys)	GALNT16-AS1, EXD2 (R30C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2275492	NM_001193360.2(EXD2):c.92G>C (p.Arg31Pro)	EXD2, GALNT16-AS1 (R31P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2289647	NM_001193360.2(EXD2):c.128C>T (p.Pro43Leu)	EXD2, GALNT16-AS1 (P43L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2493171	NM_001193360.2(EXD2):c.148A>G (p.Ser50Gly)	EXD2, GALNT16-AS1 (S50G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2237272	NM_001193360.2(EXD2):c.217C>T (p.Arg73Trp)	EXD2, GALNT16-AS1 (R73W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2292601	NM_001193360.2(EXD2):c.410G>A (p.Arg137His)	EXD2, GALNT16-AS1 (R137H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292794	NM_001193360.2(EXD2):c.428G>A (p.Cys143Tyr)	EXD2, GALNT16-AS1 (C18Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2494158	NM_001193360.2(EXD2):c.595A>T (p.Asn199Tyr)	EXD2, GALNT16-AS1 (N74Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229501	NM_001193360.2(EXD2):c.628C>T (p.Leu210Phe)	EXD2, GALNT16-AS1 (L210F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484745	NM_001193360.2(EXD2):c.631G>A (p.Ala211Thr)	EXD2, GALNT16-AS1 (A211T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408246	NM_001193360.2(EXD2):c.677G>A (p.Arg226His)	EXD2, GALNT16-AS1 (R101H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2604487	NM_001193360.2(EXD2):c.686A>G (p.Asn229Ser)	EXD2, GALNT16-AS1 (N229S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247453	NM_001193360.2(EXD2):c.788C>G (p.Ser263Cys)	GALNT16-AS1, EXD2 (S263C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236106	NM_001193360.2(EXD2):c.823A>G (p.Ser275Gly)	EXD2, GALNT16-AS1 (S275G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477179	NM_001193360.2(EXD2):c.902G>C (p.Gly301Ala)	EXD2, GALNT16-AS1 (G301A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2610816	NM_001193360.2(EXD2):c.1139T>C (p.Leu380Pro)	EXD2, GALNT16-AS1 (L380P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234668	NM_001193360.2(EXD2):c.1151T>C (p.Ile384Thr)	EXD2, GALNT16-AS1 (I259T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555666	NM_001193360.2(EXD2):c.1202C>T (p.Pro401Leu)	EXD2, GALNT16-AS1 (P276L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368724	NM_001193360.2(EXD2):c.1216G>A (p.Glu406Lys)	EXD2, GALNT16-AS1 (E406K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319140	NM_001193360.2(EXD2):c.1250A>C (p.Glu417Ala)	EXD2, GALNT16-AS1 (E417A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2407683	NM_001193360.2(EXD2):c.1331C>G (p.Pro444Arg)	EXD2, GALNT16-AS1 (P319R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348835	NM_001193360.2(EXD2):c.1522G>A (p.Ala508Thr)	EXD2, GALNT16-AS1 (A383T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468335	NM_001193360.2(EXD2):c.1553A>G (p.Gln518Arg)	EXD2, GALNT16-AS1 (Q393R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2556236	NM_001193360.2(EXD2):c.1717C>T (p.Arg573Cys)	EXD2, GALNT16-AS1 (R448C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393107	NM_001193360.2(EXD2):c.1738A>G (p.Ser580Gly)	EXD2, GALNT16-AS1 (S455G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282803	NM_001193360.2(EXD2):c.1828C>T (p.Arg610Trp)	EXD2, GALNT16-AS1 (R485W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2353163	NM_001193360.2(EXD2):c.1834T>G (p.Phe612Val)	EXD2, GALNT16-AS1 (F612V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477974	NM_001193360.2(EXD2):c.1852A>G (p.Ile618Val)	EXD2, GALNT16-AS1 (I618V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 28