ClinVar for Gene (Select 283742) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277578	NM_173611.4(FAM98B):c.1051G>A (p.Gly351Arg)	FAM98B (G351R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277577	NM_173611.4(FAM98B):c.1057G>T (p.Gly353Trp)	FAM98B (G353W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277576	NM_173611.4(FAM98B):c.308T>C (p.Ile103Thr)	FAM98B (I103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243876	NC_000015.9:g.(?_38545387)_(40293445_?)dup	EIF2AK4, FAM98B +7 more	Duplication	not provided	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3092743	NM_173611.4(FAM98B):c.949C>T (p.Pro317Ser)	FAM98B (P317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092742	NM_173611.4(FAM98B):c.832C>G (p.Leu278Val)	FAM98B (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092740	NM_173611.4(FAM98B):c.827A>T (p.Glu276Val)	FAM98B (E276V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092739	NM_173611.4(FAM98B):c.661C>T (p.Arg221Cys)	FAM98B (R221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092738	NM_173611.4(FAM98B):c.224A>T (p.Asp75Val)	FAM98B (D75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092737	NM_173611.4(FAM98B):c.187T>C (p.Cys63Arg)	FAM98B (C63R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092736	NM_173611.4(FAM98B):c.175A>T (p.Ile59Leu)	FAM98B (I59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092735	NM_173611.4(FAM98B):c.1261G>A (p.Gly421Ser)	FAM98B (G421S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092734	NM_173611.4(FAM98B):c.1128G>C (p.Trp376Cys)	FAM98B (W376C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092733	NM_173611.4(FAM98B):c.1112G>A (p.Gly371Glu)	FAM98B (G371E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092732	NM_173611.4(FAM98B):c.1077G>C (p.Trp359Cys)	FAM98B (W359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092731	NM_173611.4(FAM98B):c.1057G>A (p.Gly353Arg)	FAM98B (G353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 2645157	NM_173611.4(FAM98B):c.1251T>A (p.Gly417=)	FAM98B	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2558099	NM_173611.4(FAM98B):c.1296A>T (p.Arg432Ser)	FAM98B (R432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540538	NM_173611.4(FAM98B):c.691G>A (p.Val231Met)	FAM98B (V231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532779	NM_173611.4(FAM98B):c.1129G>T (p.Gly377Trp)	FAM98B (G377W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494120	NM_173611.4(FAM98B):c.782C>T (p.Ser261Leu)	FAM98B (S261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465849	NM_173611.4(FAM98B):c.662G>A (p.Arg221His)	FAM98B (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460505	NM_173611.4(FAM98B):c.209C>T (p.Thr70Met)	FAM98B (T70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314209	NM_173611.4(FAM98B):c.1103G>A (p.Gly368Asp)	FAM98B (G368D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294241	NM_173611.4(FAM98B):c.731T>G (p.Val244Gly)	FAM98B (V244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281832	NM_173611.4(FAM98B):c.316C>T (p.Arg106Cys)	FAM98B (R106C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271897	NM_173611.4(FAM98B):c.1256G>A (p.Gly419Asp)	FAM98B (G419D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256262	NM_173611.4(FAM98B):c.115G>A (p.Ala39Thr)	FAM98B (A39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526443	GRCh37/hg19 15q14(chr15:37711704-38993669)	FAM98B, LINC02694 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980029	GRCh37/hg19 15q14(chr15:38632117-39790989)x3	SPRED1, LINC02694 +3 more	Copy number gain	not provided	GUncertain significance
Select item 688522	GRCh37/hg19 15q14(chr15:37865227-38932551)x3	FAM98B, RASGRP1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 583432	NC_000015.10:g.(?_38253166)_(39021201_?)del	FAM98B, LINC02694 +24 more	Deletion	Legius syndrome	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395223	GRCh37/hg19 15q14(chr15:36905047-40037396)x4	CDIN1, FAM98B +8 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 151932	GRCh38/hg38 15q14(chr15:38154297-38507355)x3	FAM98B, LOC125078059 +11 more	Copy number gain	See cases	GUncertain significance
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51