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

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270253	NM_005231.4(CTTN):c.55G>T (p.Ala19Ser)	CTTN (A19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268280	NM_005231.4(CTTN):c.73G>C (p.Asp25His)	CTTN (D25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335032	NM_005231.4(CTTN):c.167A>G (p.His56Arg)	CTTN (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331090	NM_005231.4(CTTN):c.180G>C (p.Glu60Asp)	CTTN (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270254	NM_005231.4(CTTN):c.244C>T (p.His82Tyr)	CTTN (H82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278004	NM_005231.4(CTTN):c.464C>G (p.Ser155Cys)	CTTN (S155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547294	NM_005231.4(CTTN):c.482A>G (p.Lys161Arg)	CTTN (K161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221792	NM_005231.4(CTTN):c.490G>A (p.Val164Met)	CTTN (V164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537515	NM_005231.4(CTTN):c.578A>G (p.Lys193Arg)	CTTN, LOC126861253 (K193R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474258	NM_005231.4(CTTN):c.589G>A (p.Gly197Ser)	CTTN, LOC126861253 (G197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619454	NM_005231.4(CTTN):c.646C>A (p.Gln216Lys)	CTTN, LOC126861253 (Q216K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332493	NM_005231.4(CTTN):c.762G>T (p.Glu254Asp)	CTTN, LOC126861253 (E254D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525221	NM_005231.4(CTTN):c.908C>G (p.Ser303Cys)	CTTN (S266C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078821	NM_005231.4(CTTN):c.916T>G (p.Phe306Val)	CTTN (F306V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406288	NM_005231.4(CTTN):c.919G>A (p.Gly307Ser)	CTTN (G307S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411616	NM_005231.4(CTTN):c.922G>A (p.Gly308Arg)	CTTN (G271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335815	NM_005231.4(CTTN):c.947G>A (p.Arg316Gln)	CTTN (R279Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544070	NM_005231.4(CTTN):c.1048A>G (p.Ile350Val)	CTTN (I313V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204816	NM_005231.4(CTTN):c.1095C>G (p.Asp365Glu)	CTTN (D328E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386522	NM_005231.4(CTTN):c.1142G>A (p.Arg381Gln)	CTTN (R344Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597965	NM_005231.4(CTTN):c.1153G>C (p.Glu385Gln)	CTTN (E385Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351387	NM_005231.4(CTTN):c.1172T>A (p.Leu391Gln)	CTTN (L391Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078813	NM_005231.4(CTTN):c.1184C>G (p.Ala395Gly)	CTTN (A358G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221428	NM_005231.4(CTTN):c.1196C>T (p.Thr399Met)	CTTN (T362M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306989	NM_005231.4(CTTN):c.1254C>A (p.Ser418Arg)	CTTN (S418R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257367	NM_005231.4(CTTN):c.1329G>T (p.Glu443Asp)	CTTN (E406D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605909	NM_005231.4(CTTN):c.1334T>C (p.Val445Ala)	CTTN (V408A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078814	NM_005231.4(CTTN):c.1376A>G (p.Gln459Arg)	CTTN (Q422R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593581	NM_005231.4(CTTN):c.1433A>G (p.His478Arg)	CTTN (H478R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078815	NM_005231.4(CTTN):c.1438C>A (p.Pro480Thr)	CTTN (P480T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527445	NM_005231.4(CTTN):c.1438C>T (p.Pro480Ser)	CTTN (P443S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078816	NM_005231.4(CTTN):c.1441G>A (p.Ala481Thr)	CTTN (A444T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3078817	NM_005231.4(CTTN):c.1459G>A (p.Asp487Asn)	CTTN (D450N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078818	NM_005231.4(CTTN):c.1597G>C (p.Val533Leu)	CTTN (V496L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603655	NM_005231.4(CTTN):c.*309G>A	CTTN (R502K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387974	NM_005231.4(CTTN):c.*317G>A	CTTN (A505T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309029	NM_005231.4(CTTN):c.*335G>C	CTTN (V511L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530043	NM_005231.4(CTTN):c.*357G>T	CTTN (C518F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245546	NM_005231.4(CTTN):c.*362C>T	CTTN (R520W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234912	NM_005231.4(CTTN):c.*375G>C	CTTN (G524A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375447	NM_005231.4(CTTN):c.*402T>G	CTTN (L533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2274434	NM_005231.4(CTTN):c.*446T>G	CTTN (S548A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270252	NM_005231.4(CTTN):c.*468G>T	CTTN (R555M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280910	NM_005231.4(CTTN):c.*520C>G	CTTN (H572Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351783	NM_005231.4(CTTN):c.*563G>A	CTTN (V587M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406885	NM_005231.4(CTTN):c.*572C>T	CTTN (R590C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361040	NM_005231.4(CTTN):c.*1145C>T	CTTN (R602W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270251	NM_005231.4(CTTN):c.*1161T>C	CTTN (V607A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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Items: 48