CHD9[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 59487	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 221522	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1	ADCY7, AKTIP +171 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 148654	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1	ADCY7, BRD7 +136 more	Copy number loss	See cases	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 59490	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1	AKTIP, CAPNS2 +104 more	Copy number loss	See cases	GPathogenic
Select item 148728	GRCh38/hg38 16q12.1-12.2(chr16:51749870-53547882)x1	AKTIP, CASC16 +42 more	Copy number loss	See cases	GUncertain significance
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 2315505	NM_001308319.2(CHD9):c.13A>T (p.Met5Leu)	CHD9 (M5L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406258	NM_001308319.2(CHD9):c.26T>C (p.Phe9Ser)	CHD9 (F9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144269	NM_001308319.2(CHD9):c.95C>T (p.Pro32Leu)	CHD9 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287104	NM_001308319.2(CHD9):c.259G>A (p.Gly87Ser)	CHD9 (G87S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358266	NM_001308319.2(CHD9):c.331C>T (p.Pro111Ser)	CHD9 (P111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144231	NM_001308319.2(CHD9):c.335A>G (p.Asn112Ser)	CHD9 (N112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144232	NM_001308319.2(CHD9):c.364A>C (p.Ser122Arg)	CHD9 (S122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280229	NM_001308319.2(CHD9):c.442C>T (p.His148Tyr)	CHD9 (H148Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144242	NM_001308319.2(CHD9):c.500C>T (p.Ala167Val)	CHD9 (A167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286279	NM_001308319.2(CHD9):c.511C>A (p.Gln171Lys)	CHD9 (Q171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251349	NM_001308319.2(CHD9):c.536C>T (p.Ser179Leu)	CHD9 (S179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556592	NM_001308319.2(CHD9):c.658T>C (p.Ser220Pro)	CHD9 (S220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144253	NM_001308319.2(CHD9):c.701C>T (p.Thr234Met)	CHD9 (T234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242049	NM_001308319.2(CHD9):c.706A>G (p.Asn236Asp)	CHD9 (N236D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144267	NM_001308319.2(CHD9):c.871G>T (p.Ala291Ser)	CHD9 (A291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144268	NM_001308319.2(CHD9):c.895A>G (p.Asn299Asp)	CHD9 (N299D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518098	NM_001308319.2(CHD9):c.980A>G (p.Asn327Ser)	CHD9 (N327S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144221	NM_001308319.2(CHD9):c.1049G>A (p.Ser350Asn)	CHD9 (S350N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622019	NM_001308319.2(CHD9):c.1100C>T (p.Ser367Leu)	CHD9 (S367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204775	NM_001308319.2(CHD9):c.1112T>C (p.Met371Thr)	CHD9 (M371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144222	NM_001308319.2(CHD9):c.1124A>G (p.Asn375Ser)	CHD9 (N375S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529855	NM_001308319.2(CHD9):c.1204A>C (p.Thr402Pro)	CHD9 (T402P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598978	NM_001308319.2(CHD9):c.1244T>G (p.Leu415Arg)	CHD9 (L415R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646531	NM_001308319.2(CHD9):c.1326G>A (p.Ser442=)	CHD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2475266	NM_001308319.2(CHD9):c.1351A>G (p.Met451Val)	CHD9 (M451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144223	NM_001308319.2(CHD9):c.1379C>T (p.Ala460Val)	CHD9 (A460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278143	NM_001308319.2(CHD9):c.1438T>C (p.Cys480Arg)	CHD9 (C480R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615789	NM_001308319.2(CHD9):c.1454C>T (p.Pro485Leu)	CHD9 (P11L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546198	NM_001308319.2(CHD9):c.1467G>T (p.Lys489Asn)	CHD9 (K489N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311035	NM_001308319.2(CHD9):c.1501C>A (p.Gln501Lys)	CHD9 (Q27K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144225	NM_001308319.2(CHD9):c.1582C>T (p.Arg528Cys)	CHD9 (R54C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326007	NM_001308319.2(CHD9):c.1618C>T (p.Arg540Cys)	CHD9 (R540C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370901	NM_001308319.2(CHD9):c.1627C>T (p.Arg543Cys)	CHD9 (R36C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646532	NM_001308319.2(CHD9):c.1722A>G (p.Pro574=)	CHD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399661	NM_001308319.2(CHD9):c.1766A>G (p.Lys589Arg)	CHD9 (K589R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464703	NM_001308319.2(CHD9):c.1808A>G (p.Lys603Arg)	CHD9 (K603R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265756	NM_001308319.2(CHD9):c.1892C>T (p.Ser631Phe)	CHD9 (S631F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371808	NM_001308319.2(CHD9):c.1943A>G (p.Asp648Gly)	CHD9 (D141G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316667	NM_001308319.2(CHD9):c.2041G>C (p.Val681Leu)	CHD9 (V681L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293768	NM_001308319.2(CHD9):c.2150T>A (p.Phe717Tyr)	CHD9 (F243Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216448	NM_001308319.2(CHD9):c.2374C>A (p.Pro792Thr)	CHD9 (P285T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315506	NM_001308319.2(CHD9):c.2503A>G (p.Arg835Gly)	CHD9 (R835G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144227	NM_001308319.2(CHD9):c.2515C>T (p.Arg839Cys)	CHD9 (R365C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274943	NM_001308319.2(CHD9):c.2516G>A (p.Arg839His)	CHD9 (R365H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384567	NM_001308319.2(CHD9):c.2573A>G (p.Asn858Ser)	CHD9 (N858S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538349	NM_001308319.2(CHD9):c.2750T>C (p.Leu917Pro)	CHD9 (L443P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144229	NM_001308319.2(CHD9):c.2761G>A (p.Ala921Thr)	CHD9 (A447T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515969	NM_001308319.2(CHD9):c.2786C>T (p.Thr929Met)	CHD9 (T455M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262399	NM_001308319.2(CHD9):c.2840T>C (p.Met947Thr)	CHD9 (M947T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352864	NM_001308319.2(CHD9):c.2882G>A (p.Arg961His)	CHD9 (R961H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314656	NM_001308319.2(CHD9):c.2938C>T (p.Leu980Phe)	CHD9 (L506F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407376	NM_001308319.2(CHD9):c.2975G>A (p.Arg992Gln)	CHD9 (R518Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281474	NM_001308319.2(CHD9):c.2978G>C (p.Cys993Ser)	CHD9 (C486S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319917	NM_001308319.2(CHD9):c.3143T>G (p.Phe1048Cys)	CHD9 (F574C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278929	NM_001308319.2(CHD9):c.3367A>G (p.Lys1123Glu)	CHD9 (K1123E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604580	NM_001308319.2(CHD9):c.3406A>G (p.Thr1136Ala)	CHD9 (T1136A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541873	NM_001308319.2(CHD9):c.3466_3472del (p.Lys1156fs)	CHD9 (K682fs +2 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2266049	NM_001308319.2(CHD9):c.3625C>T (p.Arg1209Cys)	CHD9 (R1209C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493726	NM_001308319.2(CHD9):c.3671T>C (p.Leu1224Ser)	CHD9 (L1224S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281966	NM_001308319.2(CHD9):c.3830A>G (p.Asp1277Gly)	CHD9 (D1277G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262291	NM_001308319.2(CHD9):c.3865C>G (p.Gln1289Glu)	CHD9 (Q782E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560280	NM_001308319.2(CHD9):c.3925C>T (p.Arg1309Cys)	CHD9 (R1309C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333071	NM_001308319.2(CHD9):c.3952G>A (p.Asp1318Asn)	CHD9 (D1318N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530935	NM_001308319.2(CHD9):c.4087G>A (p.Ala1363Thr)	CHD9 (A1363T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144233	NM_001308319.2(CHD9):c.4090A>G (p.Ile1364Val)	CHD9 (I857V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144234	NM_001308319.2(CHD9):c.4094T>C (p.Met1365Thr)	CHD9 (M1365T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144235	NM_001308319.2(CHD9):c.4154G>A (p.Arg1385His)	CHD9 (R1385H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 932549	NM_001308319.2(CHD9):c.4167T>A (p.Thr1389=)	CHD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144236	NM_001308319.2(CHD9):c.4301T>C (p.Ile1434Thr)	CHD9 (I927T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214379	NM_001308319.2(CHD9):c.4381A>G (p.Lys1461Glu)	CHD9 (K954E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144237	NM_001308319.2(CHD9):c.4442G>A (p.Arg1481Gln)	CHD9 (R1481Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248566	NM_001308319.2(CHD9):c.4456C>T (p.Arg1486Cys)	CHD9 (R1012C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144239	NM_001308319.2(CHD9):c.4463A>G (p.Asn1488Ser)	CHD9 (N981S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646533	NM_001308319.2(CHD9):c.4695A>T (p.Thr1565=)	CHD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2495221	NM_001308319.2(CHD9):c.4697G>T (p.Arg1566Leu)	CHD9 (R1059L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144240	NM_001308319.2(CHD9):c.4811A>G (p.Lys1604Arg)	CHD9 (K1097R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144241	NM_001308319.2(CHD9):c.4991A>G (p.Glu1664Gly)	CHD9 (E1157G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211878	NM_001308319.2(CHD9):c.4999C>T (p.His1667Tyr)	CHD9 (H1193Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303023	NM_001308319.2(CHD9):c.5210A>T (p.Tyr1737Phe)	CHD9 (Y1230F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234128	NM_001308319.2(CHD9):c.5213A>G (p.Lys1738Arg)	CHD9 (K1231R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2509991	NM_001308319.2(CHD9):c.5368A>G (p.Thr1790Ala)	CHD9 (T1316A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261870	NM_001308319.2(CHD9):c.5393A>G (p.Asn1798Ser)	CHD9 (N1291S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324834	NM_001308319.2(CHD9):c.5642A>G (p.Asp1881Gly)	CHD9 (D1374G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622960	NM_001308319.2(CHD9):c.5683C>T (p.Arg1895Trp)	CHD9 (R1388W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495351	NM_001308319.2(CHD9):c.5810A>G (p.Gln1937Arg)	CHD9 (Q1937R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144244	NM_001308319.2(CHD9):c.5812G>A (p.Ala1938Thr)	CHD9 (A1464T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144245	NM_001308319.2(CHD9):c.5918G>A (p.Gly1973Asp)	CHD9 (G1499D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144246	NM_001308319.2(CHD9):c.5932G>A (p.Gly1978Arg)	CHD9 (G1504R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144247	NM_001308319.2(CHD9):c.5942G>A (p.Arg1981Gln)	CHD9 (R1474Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144248	NM_001308319.2(CHD9):c.6080C>A (p.Pro2027His)	CHD9 (P2027H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537704	NM_001308319.2(CHD9):c.6196T>G (p.Ser2066Ala)	CHD9 (S1559A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471912	NM_001308319.2(CHD9):c.6206C>T (p.Thr2069Ile)	CHD9 (T1595I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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