FAM13C[gene] - ClinVar

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Items: 55

	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 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 152646	GRCh38/hg38 10q21.1-21.3(chr10:55287177-67558442)x3	ADO, ANK3 +227 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 3091865	NM_198215.4(FAM13C):c.1671T>G (p.Asp557Glu)	FAM13C, PHYHIPL (D473E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282907	NM_198215.4(FAM13C):c.1586G>A (p.Arg529Gln)	FAM13C (R528Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524894	NM_198215.4(FAM13C):c.1556G>A (p.Arg519Gln)	FAM13C (R329Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277183	NM_198215.4(FAM13C):c.1447G>A (p.Glu483Lys)	FAM13C (E293K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161530	NM_198215.4(FAM13C):c.1427T>A (p.Leu476His)	FAM13C (L393H +7 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2265020	NM_198215.4(FAM13C):c.1312C>T (p.Pro438Ser)	FAM13C (P340S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481118	NM_198215.4(FAM13C):c.1276G>A (p.Asp426Asn)	FAM13C (D245N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540558	NM_198215.4(FAM13C):c.1187C>T (p.Thr396Ile)	FAM13C (T313I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091863	NM_198215.4(FAM13C):c.1177G>A (p.Ala393Thr)	FAM13C (A310T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527994	NM_198215.4(FAM13C):c.1163A>G (p.Glu388Gly)	FAM13C (E305G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593869	NM_198215.4(FAM13C):c.1142C>T (p.Pro381Leu)	FAM13C (P289L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299420	NM_198215.4(FAM13C):c.1136C>T (p.Ala379Val)	FAM13C (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3277182	NM_198215.4(FAM13C):c.1089G>T (p.Leu363Phe)	FAM13C (L271F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479713	NM_198215.4(FAM13C):c.1057A>C (p.Ser353Arg)	FAM13C (S261R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309334	NM_198215.4(FAM13C):c.1009C>T (p.Arg337Cys)	FAM13C (R245C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259200	NM_198215.4(FAM13C):c.949C>T (p.His317Tyr)	FAM13C (H225Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543998	NM_198215.4(FAM13C):c.946T>G (p.Ser316Ala)	FAM13C (S233A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523426	NM_198215.4(FAM13C):c.862C>G (p.Gln288Glu)	FAM13C (Q288E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091866	NM_198215.4(FAM13C):c.839G>A (p.Gly280Asp)	FAM13C (G188D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277184	NM_198215.4(FAM13C):c.594C>A (p.Asp198Glu)	FAM13C (D106E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407961	NM_198215.4(FAM13C):c.565G>A (p.Val189Met)	FAM13C (V106M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359350	NM_198215.4(FAM13C):c.463A>C (p.Ile155Leu)	FAM13C (I63L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337124	NM_198215.4(FAM13C):c.448G>C (p.Asp150His)	FAM13C (D150H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554909	NM_198215.4(FAM13C):c.301G>A (p.Gly101Arg)	FAM13C (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275200	NM_198215.4(FAM13C):c.204G>C (p.Gln68His)	FAM13C (Q68H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2212134	NM_198215.4(FAM13C):c.193C>T (p.Pro65Ser)	FAM13C (P65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548853	NM_198215.4(FAM13C):c.182C>T (p.Pro61Leu)	FAM13C (P61L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091864	NM_198215.4(FAM13C):c.157G>T (p.Ala53Ser)	FAM13C (A53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493135	NM_198215.4(FAM13C):c.148G>A (p.Asp50Asn)	FAM13C (D50N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612876	NM_198215.4(FAM13C):c.73G>T (p.Asp25Tyr)	FAM13C (D25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063161	GRCh37/hg19 10q21.1-21.2(chr10:59447320-64201694)x1	ANK3, ARID5B +15 more	Copy number loss	not specified	GUncertain significance
Select item 2685375	GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1	A1CF, ADO +51 more	Copy number loss	not provided	GPathogenic
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 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 1808430	GRCh37/hg19 10q21.1-21.2(chr10:60870153-63790451)x1	ANK3, ARID5B +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808195	GRCh37/hg19 10q21.1-21.3(chr10:57941252-64846332)x1	ADO, ANK3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1527587	GRCh37/hg19 10q21.1(chr10:60251706-61029303)	BICC1, FAM13C +1 more	Copy number gain	not specified	GUncertain significance
Select item 980923	GRCh37/hg19 10q21.1(chr10:61110523-61179023)x1	FAM13C	Copy number loss	not provided	GLikely benign
Select item 815352	GRCh37/hg19 10q21.1-21.2(chr10:61110523-61203315)x1	FAM13C	Copy number loss	not provided	GLikely benign
Select item 815349	GRCh37/hg19 10q21.1-21.3(chr10:56031210-65660398)x1	MTRNR2L5, TMEM26 +23 more	Copy number loss	not provided	GPathogenic
Select item 815348	GRCh37/hg19 10q21.1-21.2(chr10:55589950-63990649)x1	ANK3, PCDH15 +17 more	Copy number loss	not provided	GPathogenic
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 688024	GRCh37/hg19 10q21.1-21.2(chr10:59199424-62981900)x3	ANK3, BICC1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442208	GRCh37/hg19 10q21.1-21.2(chr10:57587928-64212007)x1	ANK3, ARID5B +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 55