"Ambry Genetics"[submitter] AND "MEGF9"[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2334371	NM_001080497.3(MEGF9):c.1763A>G (p.Asn588Ser)	MEGF9 (N588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354775	NM_001080497.3(MEGF9):c.1720G>A (p.Val574Ile)	MEGF9 (V574I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294150	NM_001080497.3(MEGF9):c.1615C>T (p.Arg539Cys)	MEGF9 (R539C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125227	NM_001080497.3(MEGF9):c.1609A>G (p.Met537Val)	MEGF9 (M537V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294156	NM_001080497.3(MEGF9):c.1607A>G (p.Tyr536Cys)	MEGF9 (Y536C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294154	NM_001080497.3(MEGF9):c.1516G>C (p.Ala506Pro)	MEGF9 (A506P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294163	NM_001080497.3(MEGF9):c.1505C>G (p.Thr502Ser)	MEGF9 (T502S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294158	NM_001080497.3(MEGF9):c.1474A>T (p.Ile492Phe)	MEGF9 (I492F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125225	NM_001080497.3(MEGF9):c.1442A>G (p.Asn481Ser)	MEGF9 (N481S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596297	NM_001080497.3(MEGF9):c.1426C>T (p.Pro476Ser)	MEGF9 (P476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259502	NM_001080497.3(MEGF9):c.1403A>G (p.Asn468Ser)	MEGF9 (N468S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294159	NM_001080497.3(MEGF9):c.1394T>C (p.Leu465Ser)	MEGF9 (L465S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294151	NM_001080497.3(MEGF9):c.1391T>A (p.Ile464Asn)	MEGF9 (I464N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294162	NM_001080497.3(MEGF9):c.1352A>G (p.Lys451Arg)	MEGF9 (K451R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589049	NM_001080497.3(MEGF9):c.1210G>A (p.Gly404Ser)	MEGF9 (G404S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318521	NM_001080497.3(MEGF9):c.1184G>A (p.Ser395Asn)	MEGF9 (S395N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125224	NM_001080497.3(MEGF9):c.1163A>G (p.Asn388Ser)	MEGF9 (N388S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217548	NM_001080497.3(MEGF9):c.926G>A (p.Ser309Asn)	MEGF9 (S309N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125232	NM_001080497.3(MEGF9):c.923C>G (p.Ala308Gly)	MEGF9 (A308G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374109	NM_001080497.3(MEGF9):c.920C>T (p.Ser307Phe)	MEGF9 (S307F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597215	NM_001080497.3(MEGF9):c.880A>C (p.Ser294Arg)	MEGF9 (S294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545138	NM_001080497.3(MEGF9):c.851A>G (p.Asp284Gly)	MEGF9 (D284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320786	NM_001080497.3(MEGF9):c.794C>T (p.Pro265Leu)	MEGF9 (P265L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476792	NM_001080497.3(MEGF9):c.737A>G (p.Tyr246Cys)	MEGF9 (Y246C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294161	NM_001080497.3(MEGF9):c.694G>A (p.Gly232Arg)	MEGF9 (G232R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125231	NM_001080497.3(MEGF9):c.679C>T (p.Arg227Trp)	MEGF9 (R227W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294149	NM_001080497.3(MEGF9):c.649T>C (p.Cys217Arg)	MEGF9 (C217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870906	NM_001080497.3(MEGF9):c.640G>A (p.Val214Met)	MEGF9 (V214M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3294152	NM_001080497.3(MEGF9):c.499C>A (p.Pro167Thr)	MEGF9 (P167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458222	NM_001080497.3(MEGF9):c.494C>T (p.Pro165Leu)	MEGF9 (P165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466632	NM_001080497.3(MEGF9):c.434C>A (p.Pro145Gln)	MEGF9 (P145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294157	NM_001080497.3(MEGF9):c.425G>T (p.Arg142Ile)	MEGF9 (R142I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357972	NM_001080497.3(MEGF9):c.386C>T (p.Ala129Val)	MEGF9 (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264623	NM_001080497.3(MEGF9):c.380C>A (p.Pro127His)	MEGF9 (P127H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294153	NM_001080497.3(MEGF9):c.368C>T (p.Ser123Leu)	MEGF9 (S123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239673	NM_001080497.3(MEGF9):c.284C>T (p.Ser95Phe)	MEGF9 (S95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484663	NM_001080497.3(MEGF9):c.269C>T (p.Pro90Leu)	MEGF9 (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559925	NM_001080497.3(MEGF9):c.253G>A (p.Ala85Thr)	MEGF9 (A85T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2542912	NM_001080497.3(MEGF9):c.233C>G (p.Pro78Arg)	MEGF9 (P78R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489898	NM_001080497.3(MEGF9):c.221C>A (p.Thr74Lys)	MEGF9 (T74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372264	NM_001080497.3(MEGF9):c.191G>A (p.Ser64Asn)	LOC130002471, MEGF9 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125228	NM_001080497.3(MEGF9):c.172G>A (p.Gly58Arg)	LOC130002471, MEGF9 (G58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232983	NM_001080497.3(MEGF9):c.149A>C (p.Gln50Pro)	LOC130002471, MEGF9 (Q50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125226	NM_001080497.3(MEGF9):c.148C>G (p.Gln50Glu)	LOC130002471, MEGF9 (Q50E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557547	NM_001080497.3(MEGF9):c.127G>C (p.Gly43Arg)	LOC130002471, MEGF9 (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569392	NM_001080497.3(MEGF9):c.106G>A (p.Ala36Thr)	LOC130002471, MEGF9 (A36T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373562	NM_001080497.3(MEGF9):c.97G>T (p.Ala33Ser)	LOC130002471, MEGF9 (A33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385853	NM_001080497.3(MEGF9):c.85G>T (p.Ala29Ser)	LOC130002471, MEGF9 (A29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294160	NM_001080497.3(MEGF9):c.52C>T (p.Leu18Phe)	LOC130002471, MEGF9 (L18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526074	NM_001080497.3(MEGF9):c.49G>C (p.Gly17Arg)	LOC130002471, MEGF9 (G17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125229	NM_001080497.3(MEGF9):c.32G>T (p.Ser11Ile)	LOC130002471, MEGF9 (S11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 51