ABCA9[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 114

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	ABCA10, ABCA5 +59 more	Copy number loss	See cases	GPathogenic
Select item 3117584	NM_080283.4(ABCA9):c.4845G>T (p.Lys1615Asn)	ABCA9 (K1615N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406881	NM_080283.4(ABCA9):c.4826A>G (p.Asp1609Gly)	ABCA9 (D1609G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340404	NM_080283.4(ABCA9):c.4730G>A (p.Ser1577Asn)	ABCA9 (S1577N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117520	NM_080283.4(ABCA9):c.4700C>A (p.Ala1567Asp)	ABCA9 (A1567D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559169	NM_080283.4(ABCA9):c.4685G>A (p.Arg1562Gln)	ABCA9 (R1562Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648156	NM_080283.4(ABCA9):c.4665G>A (p.Lys1555=)	ABCA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3117459	NM_080283.4(ABCA9):c.4588C>G (p.Pro1530Ala)	ABCA9 (P1530A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117432	NM_080283.4(ABCA9):c.4584G>T (p.Met1528Ile)	ABCA9 (M1528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383382	NM_080283.4(ABCA9):c.4552C>A (p.Leu1518Met)	ABCA9 (L1518M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268225	NM_080283.4(ABCA9):c.4529G>C (p.Ser1510Thr)	ABCA9 (S1510T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280893	NM_080283.4(ABCA9):c.4474G>C (p.Ala1492Pro)	ABCA9 (A1492P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342304	NM_080283.4(ABCA9):c.4469G>A (p.Arg1490Gln)	ABCA9 (R1490Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117347	NM_080283.4(ABCA9):c.4433C>T (p.Thr1478Ile)	ABCA9 (T1478I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491892	NM_080283.4(ABCA9):c.4390C>T (p.Arg1464Trp)	ABCA9 (R1464W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370355	NM_080283.4(ABCA9):c.4373A>C (p.Gln1458Pro)	ABCA9 (Q1458P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348415	NM_080283.4(ABCA9):c.4244A>G (p.Lys1415Arg)	ABCA9 (K1415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508922	NM_080283.4(ABCA9):c.4171G>A (p.Gly1391Ser)	ABCA9 (G1391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519201	NM_080283.4(ABCA9):c.4027A>G (p.Thr1343Ala)	ABCA9 (T1343A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117098	NM_080283.4(ABCA9):c.3853G>A (p.Ala1285Thr)	ABCA9 (A1285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243142	NM_080283.4(ABCA9):c.3847A>G (p.Ile1283Val)	ABCA9 (I1283V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546024	NM_080283.4(ABCA9):c.3827A>G (p.Asp1276Gly)	ABCA9 (D1276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648157	NM_080283.4(ABCA9):c.3822G>A (p.Val1274=)	ABCA9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2490642	NM_080283.4(ABCA9):c.3820G>A (p.Val1274Met)	ABCA9 (V1274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325315	NM_080283.4(ABCA9):c.3683G>A (p.Arg1228Lys)	ABCA9 (R1228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116915	NM_080283.4(ABCA9):c.3665G>A (p.Cys1222Tyr)	ABCA9 (C1222Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459351	NM_080283.4(ABCA9):c.3601A>G (p.Ile1201Val)	ABCA9 (I1201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615079	NM_080283.4(ABCA9):c.3567T>A (p.Asp1189Glu)	ABCA9 (D1189E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312491	NM_080283.4(ABCA9):c.3533G>A (p.Gly1178Asp)	ABCA9 (G1178D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317957	NM_080283.4(ABCA9):c.3457G>A (p.Ala1153Thr)	ABCA9 (A1153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205779	NM_080283.4(ABCA9):c.3414T>G (p.Ile1138Met)	ABCA9, ABCA9-AS1 (I1138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648158	NM_080283.4(ABCA9):c.3369T>C (p.Tyr1123=)	ABCA9, ABCA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648159	NM_080283.4(ABCA9):c.3324C>T (p.Ile1108=)	ABCA9, ABCA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617459	NM_080283.4(ABCA9):c.3289A>T (p.Ile1097Phe)	ABCA9, ABCA9-AS1 (I1097F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648160	NM_080283.4(ABCA9):c.3214C>T (p.Leu1072=)	ABCA9, ABCA9-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595211	NM_080283.4(ABCA9):c.3079T>G (p.Phe1027Val)	ABCA9, ABCA9-AS1 (F1027V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246414	NM_080283.4(ABCA9):c.3068G>A (p.Arg1023Gln)	ABCA9-AS1, ABCA9 (R1023Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116604	NM_080283.4(ABCA9):c.3007C>T (p.His1003Tyr)	ABCA9, ABCA9-AS1 (H1003Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116579	NM_080283.4(ABCA9):c.2956C>G (p.Leu986Val)	ABCA9, ABCA9-AS1 (L986V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340560	NM_080283.4(ABCA9):c.2813T>C (p.Ile938Thr)	ABCA9, ABCA9-AS1 (I938T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116525	NM_080283.4(ABCA9):c.2779G>A (p.Asp927Asn)	ABCA9, ABCA9-AS1 (D927N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247526	NM_080283.4(ABCA9):c.2723A>C (p.Gln908Pro)	ABCA9 (Q908P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326939	NM_080283.4(ABCA9):c.2678C>T (p.Pro893Leu)	ABCA9 (P893L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240862	NM_080283.4(ABCA9):c.2633A>C (p.Gln878Pro)	ABCA9 (Q878P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278101	NM_080283.4(ABCA9):c.2585A>G (p.Lys862Arg)	ABCA9 (K862R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217429	NM_080283.4(ABCA9):c.2558G>A (p.Arg853His)	ABCA9 (R853H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376814	NM_080283.4(ABCA9):c.2557C>T (p.Arg853Cys)	ABCA9 (R853C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376590	NM_080283.4(ABCA9):c.2515G>A (p.Val839Met)	ABCA9 (V839M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223992	NM_080283.4(ABCA9):c.2321T>C (p.Ile774Thr)	ABCA9 (I774T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315850	NM_080283.4(ABCA9):c.2302A>G (p.Arg768Gly)	ABCA9 (R768G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251565	NM_080283.4(ABCA9):c.2294A>C (p.Asp765Ala)	ABCA9 (D765A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614777	NM_080283.4(ABCA9):c.2203T>C (p.Ser735Pro)	ABCA9 (S735P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3116157	NM_080283.4(ABCA9):c.2168C>T (p.Pro723Leu)	ABCA9 (P723L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300601	NM_080283.4(ABCA9):c.2164G>T (p.Asp722Tyr)	ABCA9 (D722Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385230	NM_080283.4(ABCA9):c.1889T>C (p.Ile630Thr)	ABCA9 (I630T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323856	NM_080283.4(ABCA9):c.1874A>G (p.Lys625Arg)	ABCA9 (K625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301916	NM_080283.4(ABCA9):c.1856G>A (p.Ser619Asn)	ABCA9 (S619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619763	NM_080283.4(ABCA9):c.1811A>T (p.Glu604Val)	ABCA9 (E604V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589228	NM_080283.4(ABCA9):c.1795C>A (p.Gln599Lys)	ABCA9 (Q599K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115979	NM_080283.4(ABCA9):c.1777G>A (p.Glu593Lys)	ABCA9 (E593K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115944	NM_080283.4(ABCA9):c.1703A>G (p.Asn568Ser)	ABCA9 (N568S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342193	NM_080283.4(ABCA9):c.1630T>A (p.Tyr544Asn)	ABCA9 (Y544N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254575	NM_080283.4(ABCA9):c.1606C>T (p.Pro536Ser)	ABCA9 (P536S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540721	NM_080283.4(ABCA9):c.1529G>T (p.Gly510Val)	ABCA9 (G510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540188	NM_080283.4(ABCA9):c.1442T>C (p.Ile481Thr)	ABCA9 (I481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621107	NM_080283.4(ABCA9):c.1399T>A (p.Cys467Ser)	ABCA9 (C467S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2528560	NM_080283.4(ABCA9):c.1387A>G (p.Thr463Ala)	ABCA9 (T463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304683	NM_080283.4(ABCA9):c.1343G>A (p.Arg448Lys)	ABCA9 (R448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115679	NM_080283.4(ABCA9):c.1199T>C (p.Ile400Thr)	ABCA9 (I400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295958	NM_080283.4(ABCA9):c.1133T>C (p.Ile378Thr)	ABCA9 (I378T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283313	NM_080283.4(ABCA9):c.1114G>A (p.Val372Ile)	ABCA9 (V372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115588	NM_080283.4(ABCA9):c.1090C>A (p.Leu364Ile)	ABCA9 (L364I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604989	NM_080283.4(ABCA9):c.1055C>G (p.Thr352Arg)	ABCA9 (T352R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2476755	NM_080283.4(ABCA9):c.1052A>G (p.Tyr351Cys)	ABCA9 (Y351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522524	NM_080283.4(ABCA9):c.1000G>A (p.Val334Ile)	ABCA9 (V334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310696	NM_080283.4(ABCA9):c.964A>G (p.Ser322Gly)	ABCA9 (S322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313416	NM_080283.4(ABCA9):c.916C>T (p.Leu306Phe)	ABCA9 (L306F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458130	NM_080283.4(ABCA9):c.914C>T (p.Thr305Ile)	ABCA9 (T305I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361865	NM_080283.4(ABCA9):c.844G>A (p.Ala282Thr)	ABCA9 (A282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518359	NM_080283.4(ABCA9):c.818T>C (p.Met273Thr)	ABCA9 (M273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607501	NM_080283.4(ABCA9):c.788A>G (p.Glu263Gly)	ABCA9 (E263G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611397	NM_080283.4(ABCA9):c.730A>G (p.Asn244Asp)	ABCA9 (N244D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117727	NM_080283.4(ABCA9):c.728T>G (p.Val243Gly)	ABCA9 (V243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530920	NM_080283.4(ABCA9):c.676T>G (p.Phe226Val)	ABCA9 (F226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557466	NM_080283.4(ABCA9):c.597G>A (p.Met199Ile)	ABCA9 (M199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595744	NM_080283.4(ABCA9):c.596T>G (p.Met199Arg)	ABCA9 (M199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215088	NM_080283.4(ABCA9):c.559G>A (p.Ala187Thr)	ABCA9 (A187T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558797	NM_080283.4(ABCA9):c.466T>C (p.Ser156Pro)	ABCA9 (S156P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600536	NM_080283.4(ABCA9):c.434G>A (p.Arg145Lys)	ABCA9 (R145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209747	NM_080283.4(ABCA9):c.373G>A (p.Ala125Thr)	ABCA9 (A125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384446	NM_080283.4(ABCA9):c.330T>G (p.Asp110Glu)	ABCA9 (D110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214981	NM_080283.4(ABCA9):c.233T>C (p.Ile78Thr)	ABCA9 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485581	NM_080283.4(ABCA9):c.202G>T (p.Val68Leu)	ABCA9 (V68L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405120	NM_080283.4(ABCA9):c.199C>G (p.Arg67Gly)	ABCA9 (R67G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3116068	NM_080283.4(ABCA9):c.189G>A (p.Met63Ile)	ABCA9 (M63I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610951	NM_080283.4(ABCA9):c.170C>T (p.Thr57Ile)	ABCA9 (T57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495969	NM_080283.4(ABCA9):c.160G>A (p.Val54Ile)	ABCA9 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117691	NM_080283.4(ABCA9):c.59G>C (p.Cys20Ser)	ABCA9 (C20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 2