25230[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 150249	GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1	AHDC1, FGR +32 more	Copy number loss	See cases	GUncertain significance
Select item 1327125	NC_000001.11:g.27491184_27584566del	AHDC1, LOC105376892 +6 more	Deletion	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 1232053	NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign/Likely benign
Select item 2572889	NM_001371928.1(AHDC1):c.4790C>G (p.Thr1597Arg)	AHDC1 (T1597R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3277058	NM_001371928.1(AHDC1):c.4789A>G (p.Thr1597Ala)	AHDC1 (T1597A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783928	NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GBenign
Select item 3011652	NM_001371928.1(AHDC1):c.4769C>T (p.Ala1590Val)	AHDC1 (A242V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986611	NM_001371928.1(AHDC1):c.4765A>G (p.Met1589Val)	AHDC1 (M1589V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980549	NM_001371928.1(AHDC1):c.4761G>T (p.Gly1587=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767822	NM_001371928.1(AHDC1):c.4750_4753dup (p.Phe1585fs)	AHDC1 (F1585fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1909037	NM_001371928.1(AHDC1):c.4752C>T (p.Gly1584=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2718480	NM_001371928.1(AHDC1):c.4750G>A (p.Gly1584Ser)	AHDC1 (G236S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1545147	NM_001371928.1(AHDC1):c.4749C>T (p.Ser1583=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2504529	NM_001371928.1(AHDC1):c.4739G>T (p.Gly1580Val)	AHDC1 (G1580V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193373	NM_001371928.1(AHDC1):c.4732G>A (p.Gly1578Ser)	AHDC1 (G1578S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173017	NM_001371928.1(AHDC1):c.4718C>T (p.Ala1573Val)	AHDC1 (A1573V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1464161	NM_001371928.1(AHDC1):c.4717G>T (p.Ala1573Ser)	AHDC1 (A1573S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1463597	NM_001371928.1(AHDC1):c.4687G>A (p.Ala1563Thr)	AHDC1 (A1563T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903997	NM_001371928.1(AHDC1):c.4686C>T (p.Thr1562=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 801463	NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu)	AHDC1 (Q1560L)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2125705	NM_001371928.1(AHDC1):c.4674C>T (p.Pro1558=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336165	NM_001371928.1(AHDC1):c.4673C>T (p.Pro1558Leu)	AHDC1 (P1558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468957	NM_001371928.1(AHDC1):c.4667T>A (p.Leu1556Gln)	AHDC1 (L1556Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1027535	NM_001371928.1(AHDC1):c.4664C>T (p.Ser1555Leu)	AHDC1 (S1555L)	Single nucleotide variant (missense variant)	Spastic ataxia +2 more	GBenign/Likely benign
Select item 2717794	NM_001371928.1(AHDC1):c.4655C>T (p.Pro1552Leu)	AHDC1 (P1552L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1420809	NM_001371928.1(AHDC1):c.4651G>T (p.Val1551Leu)	AHDC1 (V1551L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723291	NM_001371928.1(AHDC1):c.4650C>T (p.Pro1550=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186011	NM_001371928.1(AHDC1):c.4646C>A (p.Ser1549Tyr)	AHDC1 (S1549Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957671	NM_001371928.1(AHDC1):c.4642C>T (p.Leu1548=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 985027	NM_001371928.1(AHDC1):c.4621C>T (p.Pro1541Ser)	AHDC1 (P1541S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048836	NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr)	AHDC1 (A1535T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1911977	NM_001371928.1(AHDC1):c.4595C>T (p.Ala1532Val)	AHDC1 (A1532V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406263	NM_001371928.1(AHDC1):c.4586G>A (p.Arg1529His)	AHDC1 (R1529H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 801464	NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys)	AHDC1 (R1529C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1333753	NM_001371928.1(AHDC1):c.4583C>T (p.Pro1528Leu)	AHDC1 (P1528L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1712775	NM_001371928.1(AHDC1):c.4519_4575del (p.Ser1507_Pro1525del)	AHDC1	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2126115	NM_001371928.1(AHDC1):c.4573C>G (p.Pro1525Ala)	AHDC1 (P1525A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234852	NM_001371928.1(AHDC1):c.4571C>A (p.Pro1524His)	AHDC1 (P1524H +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2183244	NM_001371928.1(AHDC1):c.4569G>A (p.Arg1523=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447825	NM_001371928.1(AHDC1):c.4568G>A (p.Arg1523Gln)	AHDC1 (R1523Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3098355	NM_001371928.1(AHDC1):c.4567C>T (p.Arg1523Trp)	AHDC1 (R1523W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2442681	NM_001371928.1(AHDC1):c.4567del (p.Arg1523fs)	AHDC1 (R1523fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1030033	NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr)	AHDC1 (M1521T)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome +1 more	GUncertain significance
Select item 1991363	NM_001371928.1(AHDC1):c.4561A>G (p.Met1521Val)	AHDC1 (M1521V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985035	NM_001371928.1(AHDC1):c.4547del (p.Lys1516fs)	AHDC1 (K1516fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2902084	NM_001371928.1(AHDC1):c.4546A>C (p.Lys1516Gln)	AHDC1 (K168Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438942	NM_001371928.1(AHDC1):c.4546A>G (p.Lys1516Glu)	AHDC1 (K1516E +1 more)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 2420158	NM_001371928.1(AHDC1):c.4543G>A (p.Asp1515Asn)	AHDC1 (D1515N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3237162	NM_001371928.1(AHDC1):c.4540del (p.Ala1514fs)	AHDC1 (A1514fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 760719	NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2725146	NM_001371928.1(AHDC1):c.4523C>T (p.Pro1508Leu)	AHDC1 (P1508L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182056	NM_001371928.1(AHDC1):c.4520G>A (p.Ser1507Asn)	AHDC1 (S1507N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2881232	NM_001371928.1(AHDC1):c.4512C>T (p.His1504=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801919	NM_001371928.1(AHDC1):c.4508C>T (p.Pro1503Leu)	AHDC1 (P1503L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2282769	NM_001371928.1(AHDC1):c.4505C>T (p.Ala1502Val)	AHDC1 (A154V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3098343	NM_001371928.1(AHDC1):c.4502G>T (p.Ser1501Ile)	AHDC1 (S153I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2982654	NM_001371928.1(AHDC1):c.4497C>T (p.Cys1499=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175362	NM_001371928.1(AHDC1):c.4494G>A (p.Ala1498=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1419914	NM_001371928.1(AHDC1):c.4493C>T (p.Ala1498Val)	AHDC1 (A1498V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1191374	NM_001371928.1(AHDC1):c.4492G>A (p.Ala1498Thr)	AHDC1 (A1498T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1454991	NM_001371928.1(AHDC1):c.4491C>T (p.Ala1497=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984880	NM_001371928.1(AHDC1):c.4484C>T (p.Thr1495Met)	AHDC1 (T1495M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 419512	NM_001371928.1(AHDC1):c.4482del (p.Thr1495fs)	AHDC1 (T1495fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1033214	NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=)	AHDC1	Single nucleotide variant (synonymous variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 736672	NM_001371928.1(AHDC1):c.4474C>T (p.Leu1492=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868699	NM_001371928.1(AHDC1):c.4473C>T (p.Phe1491=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3336863	NM_001371928.1(AHDC1):c.4454_4455del (p.Thr1485fs)	AHDC1 (T1485fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2981953	NM_001371928.1(AHDC1):c.4449G>A (p.Val1483=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1215530	NM_001371928.1(AHDC1):c.4443_4447del (p.Lys1482fs)	AHDC1 (K1482fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1456392	NM_001371928.1(AHDC1):c.4442del (p.Gly1481fs)	AHDC1 (G1481fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 996933	NM_001371928.1(AHDC1):c.4438del (p.Glu1480fs)	AHDC1 (E1480fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 985003	NM_001371928.1(AHDC1):c.4432C>T (p.Pro1478Ser)	AHDC1 (P1478S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2997659	NM_001371928.1(AHDC1):c.4431G>T (p.Pro1477=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529717	NM_001371928.1(AHDC1):c.4431G>A (p.Pro1477=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888044	NM_001371928.1(AHDC1):c.4430C>T (p.Pro1477Leu)	AHDC1 (P1477L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 503934	NM_001371928.1(AHDC1):c.4429_4430delinsT (p.Pro1477fs)	AHDC1 (P1477fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 2069381	NM_001371928.1(AHDC1):c.4429C>T (p.Pro1477Ser)	AHDC1 (P129S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006976	NM_001371928.1(AHDC1):c.4424G>A (p.Arg1475His)	AHDC1 (R1475H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1927989	NM_001371928.1(AHDC1):c.4423C>T (p.Arg1475Cys)	AHDC1 (R1475C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975330	NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs)	AHDC1 (R1475fs)	Deletion (frameshift variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GPathogenic
Select item 2499886	NM_001371928.1(AHDC1):c.4418C>T (p.Ala1473Val)	AHDC1 (A125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067115	NM_001371928.1(AHDC1):c.4404C>A (p.Tyr1468Ter)	AHDC1 (Y120* +1 more)	Single nucleotide variant (nonsense)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GLikely pathogenic
Select item 2638561	NM_001371928.1(AHDC1):c.4392A>T (p.Thr1464=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 986932	NM_001371928.1(AHDC1):c.4388del (p.Gly1463fs)	AHDC1 (G1463fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 737243	NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln)	AHDC1 (K1462Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3350011	NM_001371928.1(AHDC1):c.4378A>C (p.Ser1460Arg)	AHDC1 (S1460R)	Single nucleotide variant (missense variant)	AHDC1-related disorder	GUncertain significance
Select item 757016	NM_001371928.1(AHDC1):c.4377C>T (p.Pro1459=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747467	NM_001371928.1(AHDC1):c.4376C>G (p.Pro1459Arg)	AHDC1 (P111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638562	NM_001371928.1(AHDC1):c.4374C>T (p.Ser1458=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585204	NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)	AHDC1 (D1457G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3254701	NM_001371928.1(AHDC1):c.4369G>T (p.Asp1457Tyr)	AHDC1 (D1457Y)	Single nucleotide variant (missense variant)	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	GUncertain significance
Select item 387526	NM_001371928.1(AHDC1):c.4369G>A (p.Asp1457Asn)	AHDC1 (D1457N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717259	NM_001371928.1(AHDC1):c.4368C>T (p.Tyr1456=)	AHDC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1952087	NM_001371928.1(AHDC1):c.4363C>T (p.His1455Tyr)	AHDC1 (H1455Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1721767	NM_001371928.1(AHDC1):c.4357C>A (p.Gln1453Lys)	AHDC1 (H105N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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