"Ambry Genetics"[submitter] AND "ADAM28"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2225901	NM_014265.6(ADAM28):c.50G>A (p.Ser17Asn)	ADAM28, ADAM7-AS1 (S17N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589370	NM_014265.6(ADAM28):c.313T>A (p.Cys105Ser)	ADAM28, ADAM7-AS1 (C105S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622623	NM_014265.6(ADAM28):c.415T>C (p.Phe139Leu)	ADAM28, ADAM7-AS1 (F139L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281091	NM_014265.6(ADAM28):c.509G>A (p.Gly170Glu)	ADAM7-AS1, ADAM28 (G170E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287954	NM_014265.6(ADAM28):c.549C>G (p.Asn183Lys)	ADAM7-AS1, ADAM28 (N183K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367999	NM_014265.6(ADAM28):c.616A>G (p.Ile206Val)	ADAM7-AS1, ADAM28 (I206V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297070	NM_014265.6(ADAM28):c.761T>C (p.Met254Thr)	ADAM7-AS1, ADAM28 (M254T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2228731	NM_014265.6(ADAM28):c.878C>T (p.Ala293Val)	ADAM7-AS1, ADAM28 (A293V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513639	NM_014265.6(ADAM28):c.958G>A (p.Val320Ile)	ADAM28, ADAM7-AS1 (V320I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308483	NM_014265.6(ADAM28):c.1009A>T (p.Met337Leu)	ADAM28, ADAM7-AS1 (M337L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557168	NM_014265.6(ADAM28):c.1024G>C (p.Gly342Arg)	ADAM28, ADAM7-AS1 (G342R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256630	NM_014265.6(ADAM28):c.1109A>G (p.Tyr370Cys)	ADAM7-AS1, ADAM28 (Y370C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321054	NM_014265.6(ADAM28):c.1118C>T (p.Thr373Ile)	ADAM28, ADAM7-AS1 (T373I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397235	NM_014265.6(ADAM28):c.1126A>G (p.Ser376Gly)	ADAM7-AS1, ADAM28 (S376G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387388	NM_014265.6(ADAM28):c.1273A>C (p.Thr425Pro)	ADAM28, ADAM7-AS1 (T425P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327608	NM_014265.6(ADAM28):c.1288A>G (p.Thr430Ala)	ADAM28, ADAM7-AS1 (T430A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221500	NM_014265.6(ADAM28):c.1316G>A (p.Cys439Tyr)	ADAM7-AS1, ADAM28 (C439Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323649	NM_014265.6(ADAM28):c.1334T>G (p.Phe445Cys)	ADAM28, ADAM7-AS1 (F445C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387409	NM_014265.6(ADAM28):c.1358G>T (p.Cys453Phe)	ADAM7-AS1, ADAM28 (C453F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299723	NM_014265.6(ADAM28):c.1565C>T (p.Pro522Leu)	ADAM7-AS1, ADAM28 (P522L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375538	NM_014265.6(ADAM28):c.1583A>G (p.Asp528Gly)	ADAM7-AS1, ADAM28 (D528G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514950	NM_014265.6(ADAM28):c.1624G>T (p.Gly542Trp)	ADAM28, ADAM7-AS1 (G542W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355728	NM_014265.6(ADAM28):c.1709C>T (p.Ser570Leu)	ADAM28, ADAM7-AS1 (S570L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2245435	NM_014265.6(ADAM28):c.1768C>A (p.Pro590Thr)	ADAM7-AS1, ADAM28 (P590T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2373471	NM_014265.6(ADAM28):c.1981G>A (p.Val661Met)	ADAM7-AS1, ADAM28 (V661M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2307134	NM_014265.6(ADAM28):c.2023A>G (p.Met675Val)	ADAM28, ADAM7-AS1 (M675V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2297840	NM_014265.6(ADAM28):c.2078A>G (p.Glu693Gly)	ADAM7-AS1, ADAM28 (E693G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2276411	NM_014265.6(ADAM28):c.2101C>G (p.Pro701Ala)	ADAM28, ADAM7-AS1 (P701A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536272	NM_014265.6(ADAM28):c.2269C>T (p.Pro757Ser)	ADAM28, ADAM7-AS1 (P757S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2337371	NM_014265.6(ADAM28):c.2323G>C (p.Ala775Pro)	ADAM28, ADAM7-AS1 (A775P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30