FAM170B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	LOC130003758, LOC130003759 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	FAM170B, FAM170B-AS1 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	RBP3, SLC18A3 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3235900	GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)	AGAP4, AGAP6 +122 more	Copy number loss	Pulmonary arterial hypertension	GLikely pathogenic
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147898	GRCh38/hg38 10q11.23(chr10:49109413-49618870)x1	C10orf71, C10orf71-AS1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3277244	NM_001164484.2(FAM170B):c.841G>A (p.Glu281Lys)	FAM170B, FAM170B-AS1 (E281K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375588	NM_001164484.2(FAM170B):c.819G>C (p.Glu273Asp)	FAM170B, FAM170B-AS1 (E273D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3511819	NM_001164484.2(FAM170B):c.818A>C (p.Glu273Ala)	FAM170B, FAM170B-AS1 (E273A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390676	NM_001164484.2(FAM170B):c.817G>A (p.Glu273Lys)	FAM170B, FAM170B-AS1 (E273K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092001	NM_001164484.2(FAM170B):c.803C>T (p.Ser268Phe)	FAM170B, FAM170B-AS1 (S268F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277240	NM_001164484.2(FAM170B):c.800G>A (p.Cys267Tyr)	FAM170B, FAM170B-AS1 (C267Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462587	NM_001164484.2(FAM170B):c.794G>A (p.Ser265Asn)	FAM170B, FAM170B-AS1 (S265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219895	NM_001164484.2(FAM170B):c.781C>A (p.Pro261Thr)	FAM170B, FAM170B-AS1 (P261T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219653	NM_001164484.2(FAM170B):c.749C>T (p.Ala250Val)	FAM170B, FAM170B-AS1 (A250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354740	NM_001164484.2(FAM170B):c.734G>A (p.Arg245Gln)	FAM170B, FAM170B-AS1 (R245Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221273	NM_001164484.2(FAM170B):c.679A>T (p.Ile227Phe)	FAM170B, FAM170B-AS1 (I227F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481032	NM_001164484.2(FAM170B):c.619G>A (p.Val207Met)	FAM170B, FAM170B-AS1 (V207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277243	NM_001164484.2(FAM170B):c.587G>C (p.Trp196Ser)	FAM170B, FAM170B-AS1 (W196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277242	NM_001164484.2(FAM170B):c.569T>C (p.Leu190Pro)	FAM170B, FAM170B-AS1 (L190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605997	NM_001164484.2(FAM170B):c.560T>G (p.Leu187Arg)	FAM170B, FAM170B-AS1 (L187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460136	NM_001164484.2(FAM170B):c.556T>C (p.Cys186Arg)	FAM170B, FAM170B-AS1 (C186R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092000	NM_001164484.2(FAM170B):c.521G>A (p.Ser174Asn)	FAM170B, FAM170B-AS1 (S174N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621748	NM_001164484.2(FAM170B):c.516C>G (p.Asn172Lys)	FAM170B, FAM170B-AS1 (N172K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249830	NM_001164484.2(FAM170B):c.499G>A (p.Glu167Lys)	FAM170B, FAM170B-AS1 (E167K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276574	NM_001164484.2(FAM170B):c.434A>T (p.Lys145Met)	FAM170B, FAM170B-AS1 (K145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091999	NM_001164484.2(FAM170B):c.392C>T (p.Pro131Leu)	FAM170B, FAM170B-AS1 (P131L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590857	NM_001164484.2(FAM170B):c.337G>A (p.Val113Met)	FAM170B, FAM170B-AS1 (V113M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3511818	NM_001164484.2(FAM170B):c.332C>T (p.Thr111Met)	FAM170B, FAM170B-AS1 (T111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264921	NM_001164484.2(FAM170B):c.323C>T (p.Ala108Val)	FAM170B, FAM170B-AS1 (A108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482826	NM_001164484.2(FAM170B):c.289G>A (p.Asp97Asn)	FAM170B, FAM170B-AS1 (D97N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277241	NM_001164484.2(FAM170B):c.214A>G (p.Ser72Gly)	FAM170B, FAM170B-AS1 (S72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091997	NM_001164484.2(FAM170B):c.210C>A (p.Asp70Glu)	FAM170B, FAM170B-AS1 (D70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402607	NM_001164484.2(FAM170B):c.209A>G (p.Asp70Gly)	FAM170B, FAM170B-AS1 (D70G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3277239	NM_001164484.2(FAM170B):c.193G>A (p.Asp65Asn)	FAM170B, FAM170B-AS1 (D65N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468618	NM_001164484.2(FAM170B):c.173G>A (p.Gly58Asp)	FAM170B, FAM170B-AS1 (G58D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374767	NM_001164484.2(FAM170B):c.168G>C (p.Glu56Asp)	FAM170B, FAM170B-AS1 (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3511821	NM_001164484.2(FAM170B):c.145C>T (p.Pro49Ser)	FAM170B, FAM170B-AS1 (P49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091996	NM_001164484.2(FAM170B):c.137C>T (p.Ser46Phe)	FAM170B, FAM170B-AS1 (S46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527049	NM_001164484.2(FAM170B):c.124A>G (p.Arg42Gly)	FAM170B, FAM170B-AS1 (R42G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3511822	NM_001164484.2(FAM170B):c.119T>C (p.Ile40Thr)	FAM170B, FAM170B-AS1 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3511820	NM_001164484.2(FAM170B):c.73C>T (p.Pro25Ser)	FAM170B, FAM170B-AS1 (P25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091998	NM_001164484.2(FAM170B):c.29G>A (p.Gly10Glu)	FAM170B, FAM170B-AS1 (G10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595798	NM_001164484.2(FAM170B):c.19G>T (p.Asp7Tyr)	FAM170B, FAM170B-AS1 (D7Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392371	GRCh37/hg19 10q11.22-11.23(chr10:48301644-51717529)x1	ARHGAP22, C10orf53 +24 more	Copy number loss	not provided	GUncertain significance
Select item 3392370	GRCh37/hg19 10q11.22-11.23(chr10:48117190-51365069)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GUncertain significance
Select item 3392101	GRCh37/hg19 10q11.22-11.23(chr10:46287822-51821987)x3	AGAP10, AGAP4 +36 more	Copy number gain	not provided	GUncertain significance
Select item 3148882	GRCh37/hg19 10q11.22-11.23(chr10:46975077-51089085)x3	AGAP10, AGAP9 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2684603	GRCh37/hg19 10q11.22-11.23(chr10:48349961-51817663)x3	AGAP6, ARHGAP22 +25 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2663790	NC_000010.10:g.(?_49383876)_(52383915_?)del	C10orf71, CHAT +22 more	Deletion	Cockayne syndrome type 2	GPathogenic
Select item 2580332	GRCh37/hg19 10q11.22-11.23(chr10:46284269-51870080)x1	AGAP10, AGAP4 +37 more	Copy number loss	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1879150	GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3	AGAP10, AGAP6 +35 more	Copy number gain	not provided	GUncertain significance
Select item 1808699	GRCh37/hg19 10q11.22-11.23(chr10:46269493-51874356)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808685	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51700837)x1	AGAP10, AGAP9 +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807813	GRCh37/hg19 10q11.22-11.23(chr10:48252675-51861565)x1	PGBD3, PTPN20 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1807739	GRCh37/hg19 10q11.22-11.23(chr10:46966534-51903756)x3	PGBD3, PTPN20 +34 more	Copy number gain	not provided	GUncertain significance
Select item 1711870	GRCh37/hg19 10q11.22-11.23(chr10:46287821-51627470)x1	AGAP10, AGAP4 +35 more	Copy number loss	See cases	GPathogenic
Select item 1707432	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1	ASAH2, AGAP6 +22 more	Copy number loss	See cases	GPathogenic
Select item 1703569	GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)	AGAP10, AGAP9 +32 more	Copy number loss	Telangiectasia, hereditary hemorrhagic, type 5	GPathogenic
Select item 1340263	GRCh37/hg19 10q11.22-11.23(chr10:49378357-51134640)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GUncertain significance
Select item 1180522	GRCh37/hg19 10q11.22-11.23(chr10:48301535-51807296)x3	FAM170B, FAM25C +25 more	Copy number gain	not provided	GPathogenic
Select item 992645	GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GLikely pathogenic
Select item 988905	GRCh37/hg19 10q11.22-11.23(chr10:49391938-51053159)x3	C10orf71, CHAT +15 more	Copy number gain	not provided	GUncertain significance
Select item 980916	GRCh37/hg19 10q11.22-11.23(chr10:48750425-51386904)x1	ARHGAP22, C10orf53 +17 more	Copy number loss	not provided	GUncertain significance
Select item 980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	ARHGAP22, C10orf53 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 980914	GRCh37/hg19 10q11.22-11.23(chr10:47132305-51627470)x1	AGAP10, AGAP9 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 977791	GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)	SLC18A3, SYT15 +33 more	Copy number loss	10q11.22q11.23 microdeletion including CHAT and SLC18A3	GPathogenic
Select item 974738	NC_000010.10:g.49033586_52417694del	CHAT, DRGX +23 more	Deletion	Megacolon	GLikely pathogenic
Select item 973065	GRCh37/hg19 10q11.22-11.23(chr10:46321318-51595050)x1	AGAP10, AGAP4 +33 more	Copy number loss	not provided	Gnot provided
Select item 815342	GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1	TIMM23, C10orf71 +50 more	Copy number loss	not provided	GPathogenic
Select item 815341	GRCh37/hg19 10q11.22-11.23(chr10:49389565-51122608)x1	VSTM4, CHAT +15 more	Copy number loss	not provided	GUncertain significance
Select item 689042	GRCh37/hg19 10q11.22-11.23(chr10:48106368-51250418)x1	AGAP9, ANXA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 688266	GRCh37/hg19 10q11.22-11.23(chr10:46287086-51830366)x3	AGAP10, AGAP4 +37 more	Copy number gain	not provided	GUncertain significance
Select item 687599	GRCh37/hg19 10q11.22-11.23(chr10:48252674-51830366)x3	AGAP6, ANXA8 +27 more	Copy number gain	not provided	GUncertain significance
Select item 687117	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51850064)x3	AGAP10, AGAP6 +34 more	Copy number gain	not provided	GUncertain significance
Select item 686422	GRCh37/hg19 10q11.22-11.23(chr10:46235357-51874163)x1	AGAP10, AGAP4 +37 more	Copy number loss	not provided	GPathogenic
Select item 686364	GRCh37/hg19 10q11.22-11.23(chr10:46966533-51903755)x1	AGAP10, AGAP6 +34 more	Copy number loss	not provided	GPathogenic
Select item 686014	GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3	AGAP6, ARHGAP22 +22 more	Copy number gain	not provided	GUncertain significance
Select item 685237	GRCh37/hg19 10q11.22-11.23(chr10:47148813-51626260)x3	AGAP10, AGAP9 +29 more	Copy number gain	not provided	GPathogenic
Select item 684951	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51250418)x1	ARHGAP22, C10orf53 +15 more	Copy number loss	not provided	GPathogenic

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