ClinVar for Gene (Select 158056) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 199

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122383	NM_206920.3(MAMDC4):c.958G>A (p.Glu320Lys)	MAMDC4 (E320K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122382	NM_206920.3(MAMDC4):c.874G>C (p.Ala292Pro)	MAMDC4 (A292P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122381	NM_206920.3(MAMDC4):c.824C>T (p.Thr275Ile)	MAMDC4 (T275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122380	NM_206920.3(MAMDC4):c.763G>A (p.Gly255Arg)	MAMDC4 (G255R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122379	NM_206920.3(MAMDC4):c.688C>T (p.Pro230Ser)	MAMDC4 (P230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122378	NM_206920.3(MAMDC4):c.671C>T (p.Thr224Ile)	MAMDC4 (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122377	NM_206920.3(MAMDC4):c.65C>G (p.Ala22Gly)	MAMDC4 (A22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122376	NM_206920.3(MAMDC4):c.611C>T (p.Ala204Val)	MAMDC4 (A204V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122375	NM_206920.3(MAMDC4):c.599C>T (p.Ala200Val)	MAMDC4 (A200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122374	NM_206920.3(MAMDC4):c.3371C>T (p.Ala1124Val)	MAMDC4 (A1124V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122373	NM_206920.3(MAMDC4):c.3354C>G (p.Asp1118Glu)	MAMDC4 (D1118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122372	NM_206920.3(MAMDC4):c.3274C>A (p.Leu1092Ile)	MAMDC4 (L1092I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122371	NM_206920.3(MAMDC4):c.3205G>A (p.Ala1069Thr)	MAMDC4 (A1069T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122370	NM_206920.3(MAMDC4):c.3104T>C (p.Leu1035Pro)	MAMDC4 (L1035P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122369	NM_206920.3(MAMDC4):c.3028C>T (p.Arg1010Trp)	MAMDC4 (R1010W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122368	NM_206920.3(MAMDC4):c.3004G>A (p.Ala1002Thr)	MAMDC4 (A1002T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122367	NM_206920.3(MAMDC4):c.2978T>C (p.Leu993Pro)	MAMDC4 (L993P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122366	NM_206920.3(MAMDC4):c.2950C>T (p.His984Tyr)	MAMDC4 (H984Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122365	NM_206920.3(MAMDC4):c.2846G>A (p.Gly949Asp)	MAMDC4 (G949D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122364	NM_206920.3(MAMDC4):c.2626G>A (p.Val876Met)	MAMDC4 (V876M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122363	NM_206920.3(MAMDC4):c.2585T>C (p.Val862Ala)	MAMDC4 (V862A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122362	NM_206920.3(MAMDC4):c.2494G>A (p.Gly832Arg)	MAMDC4 (G832R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122361	NM_206920.3(MAMDC4):c.2491C>T (p.Arg831Cys)	MAMDC4 (R831C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122360	NM_206920.3(MAMDC4):c.2465G>A (p.Gly822Asp)	MAMDC4 (G822D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122359	NM_206920.3(MAMDC4):c.2245G>A (p.Gly749Ser)	MAMDC4 (G749S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122358	NM_206920.3(MAMDC4):c.2134T>C (p.Tyr712His)	MAMDC4 (Y712H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122357	NM_206920.3(MAMDC4):c.2047C>T (p.Arg683Cys)	MAMDC4 (R683C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122356	NM_206920.3(MAMDC4):c.1862C>G (p.Thr621Arg)	MAMDC4 (T621R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122354	NM_206920.3(MAMDC4):c.1804C>T (p.Arg602Cys)	MAMDC4 (R602C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122353	NM_206920.3(MAMDC4):c.1609C>T (p.Arg537Trp)	MAMDC4 (R537W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122351	NM_206920.3(MAMDC4):c.1559A>G (p.Glu520Gly)	MAMDC4 (E520G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122350	NM_206920.3(MAMDC4):c.1537T>C (p.Trp513Arg)	MAMDC4 (W513R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122349	NM_206920.3(MAMDC4):c.1441T>C (p.Cys481Arg)	MAMDC4 (C481R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122347	NM_206920.3(MAMDC4):c.1378G>A (p.Gly460Arg)	MAMDC4 (G460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122346	NM_206920.3(MAMDC4):c.1342C>A (p.Pro448Thr)	MAMDC4 (P448T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122345	NM_206920.3(MAMDC4):c.1245C>A (p.Asp415Glu)	MAMDC4 (D415E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122344	NM_206920.3(MAMDC4):c.1129C>T (p.Arg377Cys)	MAMDC4 (R377C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122343	NM_206920.3(MAMDC4):c.1102C>A (p.Pro368Thr)	MAMDC4 (P368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2673208	NM_206920.3(MAMDC4):c.756C>T (p.Asp252=)	MAMDC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659760	NM_206920.3(MAMDC4):c.3021C>T (p.Gly1007=)	MAMDC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659759	NM_206920.3(MAMDC4):c.2910C>T (p.Ala970=)	MAMDC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659758	NM_206920.3(MAMDC4):c.1280C>T (p.Ser427Leu)	MAMDC4 (S427L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659757	NM_206920.3(MAMDC4):c.1173C>T (p.Asp391=)	MAMDC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659756	NM_206920.3(MAMDC4):c.920G>A (p.Arg307Gln)	MAMDC4 (R307Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621656	NM_206920.3(MAMDC4):c.2369G>A (p.Arg790Gln)	MAMDC4 (R790Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619092	NM_206920.3(MAMDC4):c.469C>T (p.Arg157Trp)	MAMDC4 (R157W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613314	NM_206920.3(MAMDC4):c.2024C>T (p.Ser675Leu)	MAMDC4 (S675L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612315	NM_206920.3(MAMDC4):c.3197A>C (p.Asn1066Thr)	MAMDC4 (N1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608983	NM_206920.3(MAMDC4):c.3256C>T (p.Leu1086Phe)	MAMDC4 (L1086F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601269	NM_206920.3(MAMDC4):c.1528C>T (p.Arg510Trp)	MAMDC4 (R510W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600096	NM_206920.3(MAMDC4):c.1741C>T (p.Arg581Trp)	MAMDC4 (R581W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597604	NM_206920.3(MAMDC4):c.2359G>A (p.Ala787Thr)	MAMDC4 (A787T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595111	NM_206920.3(MAMDC4):c.2530G>A (p.Gly844Arg)	MAMDC4 (G844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590234	NM_206920.3(MAMDC4):c.1052C>G (p.Ser351Cys)	MAMDC4 (S351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588476	NM_206920.3(MAMDC4):c.352C>G (p.His118Asp)	MAMDC4 (H118D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2560216	NM_206920.3(MAMDC4):c.1790G>A (p.Arg597His)	MAMDC4 (R597H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2559589	NM_206920.3(MAMDC4):c.401G>A (p.Arg134Gln)	MAMDC4 (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556170	NM_206920.3(MAMDC4):c.1522G>A (p.Val508Met)	MAMDC4 (V508M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555974	NM_206920.3(MAMDC4):c.3408T>G (p.Asp1136Glu)	MAMDC4 (D1136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553256	NM_206920.3(MAMDC4):c.3155T>C (p.Leu1052Pro)	MAMDC4 (L1052P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543745	NM_206920.3(MAMDC4):c.2783C>G (p.Pro928Arg)	MAMDC4 (P928R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529907	NM_206920.3(MAMDC4):c.194C>T (p.Ala65Val)	MAMDC4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527352	NM_206920.3(MAMDC4):c.1981C>T (p.Arg661Cys)	MAMDC4 (R661C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523750	NM_206920.3(MAMDC4):c.889C>T (p.Arg297Cys)	MAMDC4 (R297C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520469	NM_206920.3(MAMDC4):c.1805G>A (p.Arg602His)	MAMDC4 (R602H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510848	NM_206920.3(MAMDC4):c.413C>T (p.Ser138Phe)	MAMDC4 (S138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510371	NM_206920.3(MAMDC4):c.1333C>A (p.Gln445Lys)	MAMDC4 (Q445K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507663	NM_206920.3(MAMDC4):c.1099G>A (p.Ala367Thr)	MAMDC4 (A367T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483306	NM_206920.3(MAMDC4):c.1451G>A (p.Gly484Asp)	MAMDC4 (G484D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473592	NM_206920.3(MAMDC4):c.2566G>A (p.Ala856Thr)	MAMDC4 (A856T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473462	NM_206920.3(MAMDC4):c.1586C>G (p.Ala529Gly)	MAMDC4 (A529G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467285	NM_206920.3(MAMDC4):c.2560G>A (p.Val854Met)	MAMDC4 (V854M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466298	NM_206920.3(MAMDC4):c.58G>C (p.Gly20Arg)	MAMDC4 (G20R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459526	NM_206920.3(MAMDC4):c.205G>A (p.Glu69Lys)	MAMDC4 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456001	NM_206920.3(MAMDC4):c.103G>A (p.Val35Met)	MAMDC4 (V35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	ENTPD8, INPP5E +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426327	NC_000009.11:g.(?_138392557)_(141016451_?)del	ABCA2, AGPAT2 +85 more	Deletion	Familial aplasia of the vermis +3 more	GConflicting classifications of pathogenicity
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2423367	NC_000009.11:g.(?_139089171)_(141016451_?)del	EGFL7, PAXX +73 more	Deletion	Rafiq syndrome	GPathogenic
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	ABCA2, ABO +100 more	Duplication	Rafiq syndrome +4 more	GUncertain significance
Select item 2405576	NM_206920.3(MAMDC4):c.2717T>G (p.Leu906Arg)	MAMDC4 (L906R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405240	NM_206920.3(MAMDC4):c.3128C>A (p.Pro1043His)	MAMDC4 (P1043H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404907	NM_206920.3(MAMDC4):c.220G>A (p.Gly74Ser)	MAMDC4 (G74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402842	NM_206920.3(MAMDC4):c.3284G>A (p.Arg1095Gln)	MAMDC4 (R1095Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400588	NM_206920.3(MAMDC4):c.302C>T (p.Ser101Leu)	MAMDC4 (S101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398869	NM_206920.3(MAMDC4):c.1210G>A (p.Gly404Arg)	MAMDC4 (G404R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394210	NM_206920.3(MAMDC4):c.1234G>A (p.Val412Met)	MAMDC4 (V412M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391217	NM_206920.3(MAMDC4):c.305A>T (p.Asp102Val)	MAMDC4 (D102V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385927	NM_206920.3(MAMDC4):c.1246G>A (p.Asp416Asn)	MAMDC4 (D416N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384051	NM_206920.3(MAMDC4):c.3106G>C (p.Gly1036Arg)	MAMDC4 (G1036R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382404	NM_206920.3(MAMDC4):c.1619G>C (p.Gly540Ala)	MAMDC4 (G540A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377936	NM_206920.3(MAMDC4):c.1536G>C (p.Gln512His)	MAMDC4 (Q512H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375884	NM_206920.3(MAMDC4):c.3220C>G (p.Pro1074Ala)	MAMDC4 (P1074A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374774	NM_206920.3(MAMDC4):c.727G>A (p.Glu243Lys)	MAMDC4 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373680	NM_206920.3(MAMDC4):c.2728G>A (p.Gly910Ser)	MAMDC4 (G910S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372517	NM_206920.3(MAMDC4):c.1783C>T (p.His595Tyr)	MAMDC4 (H595Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372201	NM_206920.3(MAMDC4):c.1927A>C (p.Thr643Pro)	MAMDC4 (T643P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2