9464[Gene ID] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 59508	GRCh38/hg38 4q34.1-34.3(chr4:171851295-178772816)x1	ADAM29, AGA +85 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 2703085	NM_021973.3(HAND2):c.650A>C (p.Gln217Pro)	HAND2 (Q217P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3017582	NM_021973.3(HAND2):c.648G>C (p.Lys216Asn)	HAND2 (K216N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074534	NM_021973.3(HAND2):c.647A>G (p.Lys216Arg)	HAND2 (K216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981834	NM_021973.3(HAND2):c.594G>C (p.Lys198Asn)	HAND2 (K198N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981696	NM_021973.3(HAND2):c.585C>A (p.Ser195Arg)	HAND2 (S195R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3283444	NM_021973.3(HAND2):c.574A>C (p.Thr192Pro)	HAND2 (T192P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331143	NM_021973.3(HAND2):c.556-18C>G	HAND2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1418624	NM_021973.3(HAND2):c.503A>G (p.Lys168Arg)	HAND2, HAND2-AS1 (K168R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1553754	NM_021973.3(HAND2):c.492G>A (p.Ala164=)	HAND2-AS1, HAND2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2509177	NM_021973.3(HAND2):c.484G>A (p.Gly162Ser)	HAND2, HAND2-AS1 (G162S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1990379	NM_021973.3(HAND2):c.459C>T (p.Asp153=)	HAND2, HAND2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2135351	NM_021973.3(HAND2):c.406_407del (p.Ser136fs)	HAND2, HAND2-AS1 (S136fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 139597	NM_021973.3(HAND2):c.390C>A (p.Pro130=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 2633648	NM_021973.3(HAND2):c.385G>A (p.Val129Ile)	HAND2, HAND2-AS1 (V129I)	Single nucleotide variant (missense variant)	HAND2-related disorder	GUncertain significance
Select item 2530712	NM_021973.3(HAND2):c.383A>G (p.Asn128Ser)	HAND2, HAND2-AS1 (N128S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1516684	NM_021973.3(HAND2):c.365T>C (p.Leu122Pro)	HAND2, HAND2-AS1 (L122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3036281	NM_021973.3(HAND2):c.324G>A (p.Glu108=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	HAND2-related disorder	GLikely benign
Select item 1599353	NM_021973.3(HAND2):c.291G>A (p.Pro97=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2629477	NM_021973.3(HAND2):c.290C>G (p.Pro97Arg)	HAND2, HAND2-AS1 (P97R)	Single nucleotide variant (missense variant)	HAND2-related disorder	GUncertain significance
Select item 1975490	NM_021973.3(HAND2):c.283C>G (p.Pro95Ala)	HAND2, HAND2-AS1 (P95A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353539	NM_021973.3(HAND2):c.282del (p.Pro95fs)	HAND2, HAND2-AS1 (P95fs)	Deletion (frameshift variant)	HAND2-related disorder	GUncertain significance
Select item 2655189	NM_021973.3(HAND2):c.277G>T (p.Gly93Trp)	HAND2, HAND2-AS1 (G93W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2387603	NM_021973.3(HAND2):c.277G>C (p.Gly93Arg)	HAND2, HAND2-AS1 (G93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074317	NM_021973.3(HAND2):c.269C>G (p.Pro90Arg)	HAND2, HAND2-AS1 (P90R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3283442	NM_021973.3(HAND2):c.259G>T (p.Ala87Ser)	HAND2, HAND2-AS1 (A87S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3049302	NM_021973.3(HAND2):c.252G>A (p.Pro84=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	HAND2-related disorder	GLikely benign
Select item 2634821	NM_021973.3(HAND2):c.247G>T (p.Val83Leu)	HAND2, HAND2-AS1 (V83L)	Single nucleotide variant (missense variant)	HAND2-related disorder	GUncertain significance
Select item 2542944	NM_021973.3(HAND2):c.215C>T (p.Ala72Val)	HAND2, HAND2-AS1 (A72V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3104175	NM_021973.3(HAND2):c.214G>A (p.Ala72Thr)	HAND2, HAND2-AS1 (A72T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183129	NM_021973.3(HAND2):c.213C>T (p.Gly71=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355016	NM_021973.3(HAND2):c.206C>A (p.Ala69Asp)	HAND2, HAND2-AS1 (A69D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545687	NM_021973.3(HAND2):c.199G>T (p.Glu67Ter)	HAND2, HAND2-AS1 (E67*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1A	GPathogenic
Select item 1263762	NM_021973.3(HAND2):c.153C>G (p.Pro51=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2815840	NM_021973.3(HAND2):c.138G>A (p.Trp46Ter)	HAND2, HAND2-AS1 (W46*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 750314	NM_021973.3(HAND2):c.114G>A (p.Glu38=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529427	NM_021973.3(HAND2):c.112G>C (p.Glu38Gln)	HAND2, HAND2-AS1 (E38Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177944	NM_021973.3(HAND2):c.107G>A (p.Ser36Asn)	HAND2, HAND2-AS1 (S36N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1914639	NM_021973.3(HAND2):c.82GCC[6] (p.Ala32_Ser33insAla)	HAND2, HAND2-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2066193	NM_021973.3(HAND2):c.76_96del (p.Ala26_Ala32del)	HAND2, HAND2-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2046134	NM_021973.3(HAND2):c.73_96del (p.Ala25_Ala32del)	HAND2, HAND2-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1374338	NM_021973.3(HAND2):c.70_96del (p.Ala24_Ala32del)	HAND2, HAND2-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2973129	NM_021973.3(HAND2):c.78_92del (p.Ala28_Ala32del)	HAND2, HAND2-AS1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2075933	NM_021973.3(HAND2):c.63CGC[7] (p.Ala32_Ser33insAlaAla)	HAND2, HAND2-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1988236	NM_021973.3(HAND2):c.63CGC[6] (p.Ala32_Ser33insAla)	HAND2, HAND2-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2895777	NM_021973.3(HAND2):c.75C>A (p.Ala25=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3104177	NM_021973.3(HAND2):c.68C>T (p.Ala23Val)	HAND2, HAND2-AS1 (A23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2980456	NM_021973.3(HAND2):c.64G>A (p.Ala22Thr)	HAND2, HAND2-AS1 (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2558996	NM_021973.3(HAND2):c.62C>G (p.Ala21Gly)	HAND2, HAND2-AS1 (A21G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2883715	NM_021973.3(HAND2):c.61G>A (p.Ala21Thr)	HAND2, HAND2-AS1 (A21T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3283443	NM_021973.3(HAND2):c.44A>G (p.His15Arg)	HAND2, HAND2-AS1 (H15R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1673213	NM_021973.3(HAND2):c.24C>T (p.Pro8=)	HAND2, HAND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104176	NM_021973.3(HAND2):c.23C>T (p.Pro8Leu)	HAND2, HAND2-AS1 (P8L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629263	NM_021973.3(HAND2):c.22C>T (p.Pro8Ser)	HAND2, HAND2-AS1 (P8S)	Single nucleotide variant (missense variant)	HAND2-related disorder	GUncertain significance
Select item 2251041	NM_021973.3(HAND2):c.13G>A (p.Gly5Ser)	HAND2, HAND2-AS1 (G5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1241341	NC_000004.12:g.173530415G>A	HAND2, HAND2-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 3246756	NC_000004.11:g.(?_171788098)_(175916898_?)del	ADAM29, CEP44 +9 more	Deletion	not provided	GUncertain significance
Select item 3148912	GRCh37/hg19 4q34.1-34.3(chr4:172781617-182798652)x3	ADAM29, AGA +17 more	Copy number gain	not provided	GPathogenic
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	F11, FAM149A +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SEC24D, CLDN22 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685134	GRCh37/hg19 4q33-35.1(chr4:171476330-184998011)x1	GLRA3, GPM6A +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 2423427	NC_000004.11:g.(?_174448428)_(175443602_?)del	CEP44, FBXO8 +2 more	Deletion	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 686652	GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3	AADAT, ACSL1 +65 more	Copy number gain	not provided	GPathogenic
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	CPE, DDX60 +36 more	Copy number gain	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic

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