FAM53C[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 146377	GRCh38/hg38 5q31.2(chr5:138179894-139039890)x3	CDC23, CDC25C +49 more	Copy number gain	See cases	GUncertain significance
Select item 2285294	NM_016605.3(FAM53C):c.181T>C (p.Phe61Leu)	FAM53C (F51L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491114	NM_016605.3(FAM53C):c.229C>T (p.His77Tyr)	FAM53C (H67Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462967	NM_016605.3(FAM53C):c.244A>G (p.Ser82Gly)	FAM53C (S82G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361237	NM_016605.3(FAM53C):c.247C>T (p.Arg83Trp)	FAM53C (R83W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092502	NM_016605.3(FAM53C):c.248G>A (p.Arg83Gln)	FAM53C (R83Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491672	NM_016605.3(FAM53C):c.260C>A (p.Pro87His)	FAM53C (P87H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395845	NM_016605.3(FAM53C):c.355C>T (p.Arg119Cys)	FAM53C (R109C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257518	NM_016605.3(FAM53C):c.361C>T (p.Leu121Phe)	FAM53C (L111F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383574	NM_016605.3(FAM53C):c.385C>T (p.Arg129Cys)	FAM53C (R129C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 91932	NM_016605.3(FAM53C):c.490C>T (p.Pro164Ser)	FAM53C (P164S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2208994	NM_016605.3(FAM53C):c.497G>A (p.Arg166Gln)	FAM53C (R156Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092503	NM_016605.3(FAM53C):c.566A>G (p.Tyr189Cys)	FAM53C (Y179C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517195	NM_016605.3(FAM53C):c.716C>T (p.Pro239Leu)	FAM53C (P229L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495077	NM_016605.3(FAM53C):c.731T>C (p.Phe244Ser)	FAM53C (F234S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612021	NM_016605.3(FAM53C):c.737C>T (p.Pro246Leu)	FAM53C (P246L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092504	NM_016605.3(FAM53C):c.796C>T (p.Arg266Cys)	FAM53C (R266C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397094	NM_016605.3(FAM53C):c.881G>A (p.Arg294Gln)	FAM53C (R284Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359439	NM_016605.3(FAM53C):c.884G>A (p.Arg295His)	FAM53C (R295H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269348	NM_016605.3(FAM53C):c.962G>A (p.Arg321Gln)	FAM53C (R110Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480477	NM_016605.3(FAM53C):c.1025C>T (p.Ser342Phe)	FAM53C (S131F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092500	NM_016605.3(FAM53C):c.1064A>T (p.Glu355Val)	FAM53C (E345V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092501	NM_016605.3(FAM53C):c.1103G>A (p.Arg368Gln)	FAM53C (R368Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 40