"Ambry Genetics"[submitter] AND "CCSER2"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244572	NM_001284240.2(CCSER2):c.26C>G (p.Thr9Arg)	CCSER2 (T9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140155	NM_001284240.2(CCSER2):c.65C>T (p.Ser22Phe)	CCSER2 (S22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264664	NM_001284240.2(CCSER2):c.127A>G (p.Lys43Glu)	CCSER2 (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140144	NM_001284240.2(CCSER2):c.143A>G (p.Lys48Arg)	CCSER2 (K48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455637	NM_001284240.2(CCSER2):c.151A>G (p.Ile51Val)	CCSER2 (I51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259673	NM_001284240.2(CCSER2):c.245C>T (p.Pro82Leu)	CCSER2 (P82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140151	NM_001284240.2(CCSER2):c.374C>G (p.Ala125Gly)	CCSER2 (A125G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140152	NM_001284240.2(CCSER2):c.379C>T (p.Pro127Ser)	CCSER2 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250175	NM_001284240.2(CCSER2):c.385A>G (p.Thr129Ala)	CCSER2 (T129A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216088	NM_001284240.2(CCSER2):c.500A>G (p.Asn167Ser)	CCSER2 (N167S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140153	NM_001284240.2(CCSER2):c.568G>A (p.Ala190Thr)	CCSER2 (A190T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264667	NM_001284240.2(CCSER2):c.610G>A (p.Ala204Thr)	CCSER2 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140154	NM_001284240.2(CCSER2):c.620C>A (p.Pro207Gln)	CCSER2 (P207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264665	NM_001284240.2(CCSER2):c.679T>A (p.Ser227Thr)	CCSER2 (S227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209332	NM_001284240.2(CCSER2):c.703C>G (p.Pro235Ala)	CCSER2 (P235A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237191	NM_001284240.2(CCSER2):c.710C>G (p.Ser237Cys)	CCSER2 (S237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518082	NM_001284240.2(CCSER2):c.716C>T (p.Thr239Ile)	CCSER2 (T239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241797	NM_001284240.2(CCSER2):c.773A>G (p.Gln258Arg)	CCSER2 (Q258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614452	NM_001284240.2(CCSER2):c.841A>G (p.Asn281Asp)	CCSER2 (N281D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140156	NM_001284240.2(CCSER2):c.842A>G (p.Asn281Ser)	CCSER2 (N281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140157	NM_001284240.2(CCSER2):c.934A>G (p.Thr312Ala)	CCSER2 (T312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220644	NM_001284240.2(CCSER2):c.946A>G (p.Arg316Gly)	CCSER2 (R316G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384769	NM_001284240.2(CCSER2):c.1000A>G (p.Met334Val)	CCSER2 (M334V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240004	NM_001284240.2(CCSER2):c.1016A>C (p.Asn339Thr)	CCSER2 (N339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207637	NM_001284240.2(CCSER2):c.1274A>G (p.Asn425Ser)	CCSER2 (N425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336463	NM_001284240.2(CCSER2):c.1298A>G (p.Glu433Gly)	CCSER2 (E433G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140143	NM_001284240.2(CCSER2):c.1316A>C (p.Glu439Ala)	CCSER2 (E439A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398305	NM_001284240.2(CCSER2):c.1321C>T (p.His441Tyr)	CCSER2 (H441Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461559	NM_001284240.2(CCSER2):c.1340A>G (p.Gln447Arg)	CCSER2 (Q447R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207311	NM_001284240.2(CCSER2):c.1406T>C (p.Ile469Thr)	CCSER2 (I469T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272350	NM_001284240.2(CCSER2):c.1589A>G (p.Tyr530Cys)	CCSER2 (Y530C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326255	NM_001284240.2(CCSER2):c.1677T>A (p.Asp559Glu)	CCSER2 (D559E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140146	NM_001284240.2(CCSER2):c.1681C>T (p.Pro561Ser)	CCSER2 (P561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380004	NM_001284240.2(CCSER2):c.1726C>T (p.Arg576Cys)	CCSER2 (R576C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212886	NM_001284240.2(CCSER2):c.1727G>A (p.Arg576His)	CCSER2 (R576H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140147	NM_001284240.2(CCSER2):c.1736G>A (p.Arg579Gln)	CCSER2 (R579Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140148	NM_001284240.2(CCSER2):c.1753C>T (p.Arg585Trp)	CCSER2 (R12W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542410	NM_001284240.2(CCSER2):c.1768G>A (p.Gly590Ser)	CCSER2 (G590S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484308	NM_001284240.2(CCSER2):c.1777A>G (p.Lys593Glu)	CCSER2 (K20E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140149	NM_001284240.2(CCSER2):c.1810C>A (p.His604Asn)	CCSER2 (H604N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458325	NM_001284240.2(CCSER2):c.1838A>G (p.Tyr613Cys)	CCSER2 (Y40C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404385	NM_001284240.2(CCSER2):c.1891C>A (p.Pro631Thr)	CCSER2 (P58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140150	NM_001284240.2(CCSER2):c.1928T>C (p.Phe643Ser)	CCSER2 (F643S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216468	NM_001284240.2(CCSER2):c.2033A>G (p.Gln678Arg)	CCSER2 (Q105R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610338	NM_001284240.2(CCSER2):c.2172A>G (p.Ile724Met)	CCSER2 (I151M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264663	NM_001284240.2(CCSER2):c.2188G>A (p.Glu730Lys)	CCSER2 (E157K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264666	NM_001284240.2(CCSER2):c.2246A>T (p.His749Leu)	CCSER2 (H176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241601	NM_001284240.2(CCSER2):c.2326-13558C>T	CCSER2 (P781L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621281	NM_001284240.2(CCSER2):c.2326-13552T>C	CCSER2 (F210S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394815	NM_001284240.2(CCSER2):c.2326-13543G>T	CCSER2 (W786L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264661	NM_001284240.2(CCSER2):c.2326-13535T>G	CCSER2 (S216A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616466	NM_001284240.2(CCSER2):c.2326-13498G>A	CCSER2 (R801H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477749	NM_001284240.2(CCSER2):c.2341C>T (p.Pro781Ser)	CCSER2 (P208S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264662	NM_001284240.2(CCSER2):c.2395C>T (p.Pro799Ser)	CCSER2 (A254V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509324	NM_001284240.2(CCSER2):c.2400A>G (p.Gln800=)	CCSER2 (T256A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2394629	NM_001284240.2(CCSER2):c.2407G>A (p.Glu803Lys)	CCSER2 (R258Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 56