ClinVar for Gene (Select 149041) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248010	NC_000001.10:g.(?_171604992)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	not provided	GUncertain significance
Select item 3247682	NC_000001.10:g.(?_173873027)_(173962123_?)del	RC3H1, SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 3152660	NM_172071.4(RC3H1):c.85A>G (p.Ile29Val)	RC3H1 (I29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152659	NM_172071.4(RC3H1):c.713C>T (p.Ser238Phe)	RC3H1 (S238F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152658	NM_172071.4(RC3H1):c.3133A>G (p.Met1045Val)	RC3H1 (M1036V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152657	NM_172071.4(RC3H1):c.3056T>C (p.Met1019Thr)	RC3H1 (M1010T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152656	NM_172071.4(RC3H1):c.2986C>G (p.Gln996Glu)	RC3H1 (Q996E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152655	NM_172071.4(RC3H1):c.2861A>G (p.His954Arg)	RC3H1 (H954R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152654	NM_172071.4(RC3H1):c.27G>A (p.Thr9=)	RC3H1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3152653	NM_172071.4(RC3H1):c.2524A>G (p.Asn842Asp)	LOC126805924, RC3H1 (N842D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152652	NM_172071.4(RC3H1):c.2493T>A (p.Asp831Glu)	RC3H1 (D831E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152651	NM_172071.4(RC3H1):c.1915T>A (p.Leu639Met)	RC3H1 (L639M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152650	NM_172071.4(RC3H1):c.1913A>G (p.Tyr638Cys)	RC3H1 (Y638C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152649	NM_172071.4(RC3H1):c.1721T>C (p.Leu574Pro)	RC3H1 (L574P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152648	NM_172071.4(RC3H1):c.1601G>T (p.Gly534Val)	RC3H1 (G534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152647	NM_172071.4(RC3H1):c.1588A>C (p.Ser530Arg)	RC3H1 (S530R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152646	NM_172071.4(RC3H1):c.1535C>T (p.Thr512Ile)	RC3H1 (T512I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152644	NM_172071.4(RC3H1):c.1430T>G (p.Leu477Arg)	RC3H1 (L477R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152643	NM_172071.4(RC3H1):c.1231C>T (p.His411Tyr)	RC3H1 (H411Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152642	NM_172071.4(RC3H1):c.1117A>G (p.Thr373Ala)	RC3H1 (T373A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062855	GRCh37/hg19 1q25.1(chr1:173701568-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 3024391	NM_172071.4(RC3H1):c.71C>T (p.Thr24Ile)	RC3H1 (T24I)	Single nucleotide variant (missense variant)	Hemophagocytic lymphohistiocytosis, familial, 6	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 2639568	NM_172071.4(RC3H1):c.2555G>A (p.Arg852Gln)	LOC126805924, RC3H1 (R852Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2600277	NM_172071.4(RC3H1):c.2714C>A (p.Pro905His)	LOC126805924, RC3H1 (P905H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556102	NM_172071.4(RC3H1):c.2911C>G (p.Gln971Glu)	RC3H1 (Q971E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549574	NM_172071.4(RC3H1):c.1349A>T (p.Asn450Ile)	RC3H1 (N450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538309	NM_172071.4(RC3H1):c.1759C>A (p.Gln587Lys)	RC3H1 (Q587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530996	NM_172071.4(RC3H1):c.1220A>C (p.Gln407Pro)	RC3H1 (Q407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500075	NM_172071.4(RC3H1):c.437T>C (p.Val146Ala)	RC3H1 (V146A)	Single nucleotide variant (missense variant)	Hemophagocytic lymphohistiocytosis, familial, 6	GUncertain significance
Select item 2498439	NM_172071.4(RC3H1):c.2081T>C (p.Ile694Thr)	RC3H1 (I694T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473214	NM_172071.4(RC3H1):c.2695A>G (p.Met899Val)	LOC126805924, RC3H1 (M899V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468171	NM_172071.4(RC3H1):c.1354C>T (p.Arg452Cys)	RC3H1 (R452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464767	NM_172071.4(RC3H1):c.1639A>G (p.Ile547Val)	RC3H1 (I547V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392334	NM_172071.4(RC3H1):c.3203C>G (p.Pro1068Arg)	RC3H1 (P1068R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371814	NM_172071.4(RC3H1):c.3202C>T (p.Pro1068Ser)	RC3H1 (P1059S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368691	NM_172071.4(RC3H1):c.2414A>G (p.Asn805Ser)	RC3H1 (N805S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354727	NM_172071.4(RC3H1):c.1802C>T (p.Pro601Leu)	RC3H1 (P601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347014	NM_172071.4(RC3H1):c.3310A>T (p.Thr1104Ser)	RC3H1 (T1104S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317691	NM_172071.4(RC3H1):c.169A>G (p.Ile57Val)	RC3H1 (I57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301424	NM_172071.4(RC3H1):c.3032C>T (p.Pro1011Leu)	RC3H1 (P1011L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299788	NM_172071.4(RC3H1):c.2716A>G (p.Thr906Ala)	LOC126805924, RC3H1 (T906A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295167	NM_172071.4(RC3H1):c.1471C>A (p.Pro491Thr)	RC3H1 (P491T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264514	NM_172071.4(RC3H1):c.3072G>T (p.Gln1024His)	RC3H1 (Q1024H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241648	NM_172071.4(RC3H1):c.2720A>C (p.Lys907Thr)	LOC126805924, RC3H1 (K907T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237441	NM_172071.4(RC3H1):c.3255T>G (p.Asp1085Glu)	RC3H1 (D1085E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233556	NM_172071.4(RC3H1):c.2527G>A (p.Val843Met)	LOC126805924, RC3H1 (V843M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224351	NM_172071.4(RC3H1):c.3224C>T (p.Pro1075Leu)	RC3H1 (P1075L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224058	NM_172071.4(RC3H1):c.1877G>T (p.Arg626Leu)	RC3H1 (R626L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216131	NM_172071.4(RC3H1):c.1601G>C (p.Gly534Ala)	RC3H1 (G534A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527415	GRCh37/hg19 1q25.1(chr1:173750496-174538509)	DARS2, GAS5 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	GAS5, KLHL20 +22 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 1321915	NC_000001.11:g.173884504_174418717del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321914	NC_000001.11:g.173878539_174421154del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321913	NC_000001.11:g.173787361_174223422del	LOC129931951, RABGAP1L +39 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321912	NC_000001.11:g.173850996_173950174del	DARS2, GAS5 +20 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321910	NC_000001.11:g.173881395_174342043del	LOC122149309, LOC126805923 +21 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321908	NC_000001.11:g.173848142_174816147del	SNORD75, SNORD79 +43 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321901	NC_000001.11:g.173912160_174154195del	LOC122149309, LOC126805924 +11 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321900	NC_000001.11:g.173916704_173935703del	RC3H1, SERPINC1	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321899	NC_000001.11:g.173908511_174102900del	LOC129388636, LOC129388637 +7 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	ANKRD45, SNORD80 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321891	NC_000001.11:g.173888460_174138926del	LOC122149309, LOC126805923 +12 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	LOC129388640, LOC129931948 +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321888	NC_000001.11:g.173888461_173971254del	LOC126805923, LOC126805924 +3 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321887	NC_000001.11:g.173896668_173942868del	RC3H1, SERPINC1 +1 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	RABGAP1L-DT, SNORD78 +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1184348	NM_172071.4(RC3H1):c.2146G>A (p.Glu716Lys)	RC3H1 (E716K)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 977475	NM_172071.4(RC3H1):c.2062C>T (p.Arg688Ter)	RC3H1 (R688*)	Single nucleotide variant (nonsense)	Hemophagocytic lymphohistiocytosis, familial, 6	GPathogenic
Select item 814141	GRCh37/hg19 1q25.1(chr1:173705375-173961992)x3	CENPL, DARS2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 789260	NM_172071.4(RC3H1):c.2116C>T (p.Pro706Ser)	RC3H1 (P706S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780004	NM_172071.4(RC3H1):c.2137C>G (p.Gln713Glu)	RC3H1 (Q713E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 687913	GRCh37/hg19 1q25.1(chr1:173880477-174052900)x3	RC3H1, SERPINC1	Copy number gain	not provided	GUncertain significance
Select item 635908	Single allele	GAS5, RC3H1 +8 more	Deletion	Growth abnormality	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic
Select item 221783	GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3	CENPL, DARS2 +5 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 150672	GRCh38/hg38 1q25.1(chr1:173938666-174111110)x1	LOC126805924, LOC129388636 +6 more	Copy number loss	See cases	GLikely benign
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic

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