"Ambry Genetics"[submitter] AND "SV2C"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2265194	NM_014979.4(SV2C):c.88G>A (p.Val30Met)	SV2C (V30M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172340	NM_014979.4(SV2C):c.117T>A (p.Asp39Glu)	SV2C (D39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323317	NM_014979.4(SV2C):c.145T>C (p.Phe49Leu)	SV2C (F49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265381	NM_014979.4(SV2C):c.202G>A (p.Glu68Lys)	SV2C (E68K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172347	NM_014979.4(SV2C):c.284G>A (p.Gly95Asp)	SV2C (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172348	NM_014979.4(SV2C):c.305C>G (p.Ala102Gly)	SV2C (A102G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268235	NM_014979.4(SV2C):c.305C>T (p.Ala102Val)	SV2C (A102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513647	NM_014979.4(SV2C):c.469G>A (p.Val157Ile)	SV2C (V157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390523	NM_014979.4(SV2C):c.514G>A (p.Val172Ile)	SV2C (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323724	NM_014979.4(SV2C):c.557C>G (p.Pro186Arg)	SV2C (P186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323727	NM_014979.4(SV2C):c.559A>G (p.Asn187Asp)	SV2C (N187D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261095	NM_014979.4(SV2C):c.572G>C (p.Gly191Ala)	SV2C (G191A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544806	NM_014979.4(SV2C):c.596T>A (p.Leu199His)	SV2C (L199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321891	NM_014979.4(SV2C):c.629G>A (p.Gly210Glu)	SV2C (G210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323719	NM_014979.4(SV2C):c.690C>A (p.Phe230Leu)	SV2C (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240469	NM_014979.4(SV2C):c.713T>C (p.Val238Ala)	SV2C (V238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251160	NM_014979.4(SV2C):c.764T>C (p.Ile255Thr)	SV2C (I255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614576	NM_014979.4(SV2C):c.815G>A (p.Arg272Gln)	SV2C (R272Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323720	NM_014979.4(SV2C):c.823C>T (p.Arg275Trp)	SV2C (R275W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172349	NM_014979.4(SV2C):c.878C>T (p.Ala293Val)	SV2C (A293V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172350	NM_014979.4(SV2C):c.898A>G (p.Ile300Val)	SV2C (I300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323725	NM_014979.4(SV2C):c.952A>C (p.Ser318Arg)	SV2C (S318R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323718	NM_014979.4(SV2C):c.959G>A (p.Arg320His)	SV2C (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618128	NM_014979.4(SV2C):c.961G>C (p.Val321Leu)	SV2C (V321L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456124	NM_014979.4(SV2C):c.1034G>A (p.Arg345Gln)	SV2C (R345Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492386	NM_014979.4(SV2C):c.1138G>A (p.Val380Ile)	SV2C (V380I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323722	NM_014979.4(SV2C):c.1186G>A (p.Glu396Lys)	SV2C (E396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315145	NM_014979.4(SV2C):c.1231C>T (p.Arg411Cys)	SV2C (R411C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172341	NM_014979.4(SV2C):c.1237G>A (p.Glu413Lys)	SV2C (E413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172342	NM_014979.4(SV2C):c.1261T>A (p.Phe421Ile)	SV2C (F421I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491806	NM_014979.4(SV2C):c.1352C>A (p.Ser451Tyr)	LOC126807426, SV2C (S451Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172343	NM_014979.4(SV2C):c.1358G>T (p.Trp453Leu)	LOC126807426, SV2C (W453L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391949	NM_014979.4(SV2C):c.1508T>C (p.Ile503Thr)	SV2C (I503T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602603	NM_014979.4(SV2C):c.1513G>A (p.Val505Ile)	SV2C (V505I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323726	NM_014979.4(SV2C):c.1535T>A (p.Phe512Tyr)	SV2C (F512Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220361	NM_014979.4(SV2C):c.1648T>C (p.Tyr550His)	SV2C (Y550H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507939	NM_014979.4(SV2C):c.1660G>A (p.Asp554Asn)	SV2C (D554N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323723	NM_014979.4(SV2C):c.1661A>C (p.Asp554Ala)	SV2C (D554A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408333	NM_014979.4(SV2C):c.1700C>T (p.Thr567Met)	SV2C (T567M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242550	NM_014979.4(SV2C):c.1706G>A (p.Cys569Tyr)	SV2C (C569Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477912	NM_014979.4(SV2C):c.1733G>T (p.Ser578Ile)	SV2C (S578I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455802	NM_014979.4(SV2C):c.1738T>C (p.Tyr580His)	SV2C (Y580H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551741	NM_014979.4(SV2C):c.1757A>G (p.Asn586Ser)	SV2C (N586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459864	NM_014979.4(SV2C):c.1825C>T (p.Arg609Cys)	SV2C (R609C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568625	NM_014979.4(SV2C):c.1843G>A (p.Gly615Ser)	SV2C (G615S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622223	NM_014979.4(SV2C):c.1908G>A (p.Met636Ile)	SV2C (M636I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341722	NM_014979.4(SV2C):c.1931A>G (p.Asn644Ser)	SV2C (N644S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402199	NM_014979.4(SV2C):c.1991C>T (p.Thr664Ile)	SV2C (T664I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323721	NM_014979.4(SV2C):c.1996C>T (p.Arg666Trp)	SV2C (R666W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172345	NM_014979.4(SV2C):c.1997G>A (p.Arg666Gln)	SV2C (R666Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338616	NM_014979.4(SV2C):c.2027C>T (p.Ala676Val)	SV2C (A676V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274160	NM_014979.4(SV2C):c.2125G>A (p.Val709Met)	SV2C (V709M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172346	NM_014979.4(SV2C):c.2141T>C (p.Val714Ala)	SV2C (V714A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 53