NECAB2[gene] and "single gene"[properties] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190136	NM_019065.3(NECAB2):c.11G>C (p.Arg4Pro)	NECAB2 (R4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351167	NM_019065.3(NECAB2):c.32C>T (p.Ala11Val)	NECAB2 (A11V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615963	NM_019065.3(NECAB2):c.59C>A (p.Pro20Gln)	NECAB2 (P20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534321	NM_019065.3(NECAB2):c.65A>C (p.Gln22Pro)	NECAB2 (Q22P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299127	NM_019065.3(NECAB2):c.120G>T (p.Glu40Asp)	NECAB2 (E40D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534318	NM_019065.3(NECAB2):c.128A>C (p.Glu43Ala)	NECAB2 (E43A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534320	NM_019065.3(NECAB2):c.130T>C (p.Ser44Pro)	NECAB2 (S44P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2249624	NM_019065.3(NECAB2):c.151G>C (p.Ala51Pro)	NECAB2 (A51P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378507	NM_019065.3(NECAB2):c.155A>C (p.Asp52Ala)	NECAB2 (D52A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229643	NM_019065.3(NECAB2):c.184A>C (p.Thr62Pro)	NECAB2 (T62P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190151	NM_019065.3(NECAB2):c.211C>A (p.Arg71Ser)	NECAB2 (R71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236000	NM_019065.3(NECAB2):c.211C>T (p.Arg71Cys)	NECAB2 (R71C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362073	NM_019065.3(NECAB2):c.310C>G (p.His104Asp)	NECAB2 (H104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398772	NM_019065.3(NECAB2):c.314C>T (p.Thr105Met)	NECAB2 (R31* +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243222	NM_019065.3(NECAB2):c.403G>C (p.Ala135Pro)	NECAB2 (A135P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190162	NM_019065.3(NECAB2):c.409C>G (p.Leu137Val)	NECAB2 (L54V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299128	NM_019065.3(NECAB2):c.416C>A (p.Thr139Asn)	NECAB2 (T139N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190164	NM_019065.3(NECAB2):c.488A>G (p.Gln163Arg)	NECAB2 (Q163R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190165	NM_019065.3(NECAB2):c.497C>T (p.Thr166Ile)	NECAB2 (T166I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190167	NM_019065.3(NECAB2):c.518C>A (p.Thr173Lys)	NECAB2 (T173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402071	NM_019065.3(NECAB2):c.518C>T (p.Thr173Met)	NECAB2 (T90M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260407	NM_019065.3(NECAB2):c.524A>G (p.Asn175Ser)	NECAB2 (N175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190173	NM_019065.3(NECAB2):c.526C>G (p.Gln176Glu)	NECAB2 (Q176E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377520	NM_019065.3(NECAB2):c.557G>A (p.Ser186Asn)	NECAB2 (S103N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190177	NM_019065.3(NECAB2):c.581A>T (p.Gln194Leu)	NECAB2 (Q111L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358699	NM_019065.3(NECAB2):c.598C>G (p.Gln200Glu)	NECAB2 (Q117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512605	NM_019065.3(NECAB2):c.609C>G (p.Ile203Met)	NECAB2 (I120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268704	NM_019065.3(NECAB2):c.629C>T (p.Ala210Val)	NECAB2 (A127V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208090	NM_019065.3(NECAB2):c.649C>A (p.Pro217Thr)	NECAB2 (P134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547379	NM_019065.3(NECAB2):c.653C>T (p.Thr218Ile)	NECAB2 (T135I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299129	NM_019065.3(NECAB2):c.673C>G (p.His225Asp)	NECAB2 (H142D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406473	NM_019065.3(NECAB2):c.674A>G (p.His225Arg)	NECAB2 (H142R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343707	NM_019065.3(NECAB2):c.675C>G (p.His225Gln)	NECAB2 (H142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621178	NM_019065.3(NECAB2):c.716C>A (p.Ala239Asp)	NECAB2 (A156D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396556	NM_019065.3(NECAB2):c.719C>T (p.Thr240Met)	NECAB2 (T157M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351368	NM_019065.3(NECAB2):c.766G>A (p.Ala256Thr)	NECAB2 (A173T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356667	NM_019065.3(NECAB2):c.821G>A (p.Arg274His)	NECAB2 (R191H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3299126	NM_019065.3(NECAB2):c.824T>C (p.Leu275Pro)	NECAB2 (L192P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291895	NM_019065.3(NECAB2):c.842C>G (p.Thr281Ser)	NECAB2 (T281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388787	NM_019065.3(NECAB2):c.848T>A (p.Met283Lys)	NECAB2 (M283K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209465	NM_019065.3(NECAB2):c.859C>G (p.Leu287Val)	NECAB2 (L204V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367444	NM_019065.3(NECAB2):c.865C>T (p.Arg289Trp)	NECAB2 (R206W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610151	NM_019065.3(NECAB2):c.876G>A (p.Met292Ile)	NECAB2 (M274I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312998	NM_019065.3(NECAB2):c.878C>A (p.Ala293Asp)	NECAB2 (A210D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590994	NM_019065.3(NECAB2):c.889G>A (p.Glu297Lys)	NECAB2 (E214K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190225	NM_019065.3(NECAB2):c.931C>T (p.Arg311Trp)	NECAB2 (R293W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390490	NM_019065.3(NECAB2):c.932G>A (p.Arg311Gln)	NECAB2 (R228Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292088	NM_019065.3(NECAB2):c.946G>A (p.Val316Met)	NECAB2 (V233M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190229	NM_019065.3(NECAB2):c.982T>A (p.Ser328Thr)	NECAB2 (S310T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520895	NM_019065.3(NECAB2):c.989G>C (p.Gly330Ala)	NECAB2 (G312A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299125	NM_019065.3(NECAB2):c.1018G>C (p.Glu340Gln)	NECAB2 (E322Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190114	NM_019065.3(NECAB2):c.1020G>C (p.Glu340Asp)	NECAB2 (E340D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477528	NM_019065.3(NECAB2):c.1054C>T (p.Pro352Ser)	NECAB2 (P269S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235264	NM_019065.3(NECAB2):c.1070T>G (p.Phe357Cys)	NECAB2 (F357C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456859	NM_019065.3(NECAB2):c.1072C>T (p.Arg358Trp)	NECAB2 (R275W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464203	NM_019065.3(NECAB2):c.1073G>A (p.Arg358Gln)	NECAB2 (R340Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240107	NM_019065.3(NECAB2):c.1078G>A (p.Val360Ile)	NECAB2 (V342I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309918	NM_019065.3(NECAB2):c.1109C>A (p.Ala370Asp)	NECAB2 (A370D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238225	NM_019065.3(NECAB2):c.1115C>G (p.Ser372Cys)	NECAB2 (S289C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403225	NM_019065.3(NECAB2):c.1132+8dup	NECAB2	Duplication (intron variant)	not specified	GBenign
Select item 2393595	NM_019065.3(NECAB2):c.1154G>A (p.Arg385Gln)	NECAB2 (R302Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 61