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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2527516	NM_001130915.2(MAMSTR):c.1171C>A (p.Pro391Thr)	MAMSTR (P288T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597267	NM_001130915.2(MAMSTR):c.1169C>T (p.Pro390Leu)	MAMSTR (P222L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372559	NM_001130915.2(MAMSTR):c.951G>C (p.Gln317His)	MAMSTR (Q149H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375835	NM_001130915.2(MAMSTR):c.945G>C (p.Glu315Asp)	MAMSTR (E212D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490578	NM_001130915.2(MAMSTR):c.926G>A (p.Gly309Asp)	MAMSTR (G141D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300189	NM_001130915.2(MAMSTR):c.845C>T (p.Ser282Leu)	MAMSTR (S114L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350851	NM_001130915.2(MAMSTR):c.830C>T (p.Ala277Val)	MAMSTR (A174V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538057	NM_001130915.2(MAMSTR):c.809C>T (p.Pro270Leu)	MAMSTR (P270L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209410	NM_001130915.2(MAMSTR):c.775A>G (p.Thr259Ala)	MAMSTR (T259A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596080	NM_001130915.2(MAMSTR):c.722C>T (p.Ser241Leu)	LOC130064879, MAMSTR (S241L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300452	NM_001130915.2(MAMSTR):c.713G>A (p.Arg238His)	LOC130064879, MAMSTR (R135H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326496	NM_001130915.2(MAMSTR):c.704C>A (p.Ala235Asp)	LOC130064879, MAMSTR (A132D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2538857	NM_001130915.2(MAMSTR):c.641C>G (p.Pro214Arg)	LOC130064879, MAMSTR (P111R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534902	NM_001130915.2(MAMSTR):c.591G>T (p.Met197Ile)	LOC130064879, MAMSTR (M94I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519725	NM_001130915.2(MAMSTR):c.560G>T (p.Arg187Leu)	LOC130064879, MAMSTR (R187L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210287	NM_001130915.2(MAMSTR):c.542G>C (p.Arg181Pro)	LOC130064879, MAMSTR (R181P +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213634	NM_001130915.2(MAMSTR):c.541C>G (p.Arg181Gly)	LOC130064879, MAMSTR (R78G +1 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482339	NM_001130915.2(MAMSTR):c.536A>C (p.Glu179Ala)	LOC130064879, MAMSTR (E179A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216716	NM_001130915.2(MAMSTR):c.485C>G (p.Pro162Arg)	MAMSTR (P162R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394195	NM_001130915.2(MAMSTR):c.436T>C (p.Ser146Pro)	MAMSTR (S146P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474969	NM_001130915.2(MAMSTR):c.359G>C (p.Gly120Ala)	MAMSTR (G120A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388164	NM_001130915.2(MAMSTR):c.353C>G (p.Ala118Gly)	MAMSTR (A15G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509913	NM_001130915.2(MAMSTR):c.305A>G (p.Gln102Arg)	MAMSTR (Q102R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265079	NM_001130915.2(MAMSTR):c.271G>C (p.Glu91Gln)	MAMSTR (E91Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2495664	NM_001130915.2(MAMSTR):c.149C>G (p.Ala50Gly)	MAMSTR (A50G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25