ClinVar for Gene (Select 152877) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277467	NM_001174070.3(FAM53A):c.986G>T (p.Gly329Val)	FAM53A (G329V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277466	NM_001174070.3(FAM53A):c.568G>T (p.Ala190Ser)	FAM53A (A190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277465	NM_001174070.3(FAM53A):c.1073C>T (p.Ser358Leu)	FAM53A (S358L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277464	NM_001174070.3(FAM53A):c.659G>T (p.Arg220Leu)	FAM53A (R220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277463	NM_001174070.3(FAM53A):c.743C>T (p.Ala248Val)	FAM53A (A248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277462	NM_001174070.3(FAM53A):c.374C>T (p.Ser125Leu)	FAM53A (S125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277461	NM_001174070.3(FAM53A):c.653C>T (p.Thr218Met)	FAM53A (T218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092492	NM_001174070.3(FAM53A):c.850C>T (p.Arg284Cys)	FAM53A (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092491	NM_001174070.3(FAM53A):c.826C>T (p.Arg276Cys)	FAM53A (R276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092490	NM_001174070.3(FAM53A):c.662G>A (p.Arg221His)	FAM53A (R221H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092489	NM_001174070.3(FAM53A):c.463A>G (p.Ser155Gly)	FAM53A (S155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092488	NM_001174070.3(FAM53A):c.230C>T (p.Ala77Val)	FAM53A (A77V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092487	NM_001174070.3(FAM53A):c.206T>G (p.Phe69Cys)	FAM53A (F69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092486	NM_001174070.3(FAM53A):c.199C>T (p.Pro67Ser)	FAM53A (P67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092485	NM_001174070.3(FAM53A):c.1159C>T (p.Arg387Cys)	FAM53A (R387C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092484	NM_001174070.3(FAM53A):c.1102A>G (p.Ser368Gly)	FAM53A (S368G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092483	NM_001174070.3(FAM53A):c.1093C>T (p.Arg365Cys)	FAM53A (R365C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092482	NM_001174070.3(FAM53A):c.1051A>C (p.Asn351His)	FAM53A (N351H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092481	NM_001174070.3(FAM53A):c.1025G>T (p.Gly342Val)	FAM53A (G342V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092480	NM_001174070.3(FAM53A):c.1004T>C (p.Met335Thr)	FAM53A (M335T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2685036	GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	FAM53A, FGFR3 +13 more	Copy number gain	not provided	GUncertain significance
Select item 2595601	NM_001174070.3(FAM53A):c.200C>T (p.Pro67Leu)	FAM53A (P67L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592626	NM_001174070.3(FAM53A):c.547G>A (p.Ala183Thr)	FAM53A (A183T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591068	NM_001174070.3(FAM53A):c.1132G>A (p.Gly378Arg)	FAM53A (G378R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2568839	NM_001174070.3(FAM53A):c.496G>A (p.Gly166Ser)	FAM53A (G166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526915	NM_001174070.3(FAM53A):c.595G>A (p.Glu199Lys)	FAM53A (E199K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466527	NM_001174070.3(FAM53A):c.1171G>A (p.Asp391Asn)	FAM53A (D391N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463721	NM_001174070.3(FAM53A):c.112C>T (p.Arg38Cys)	FAM53A (R38C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463088	NM_001174070.3(FAM53A):c.814C>T (p.Arg272Cys)	FAM53A (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2411954	NM_001174070.3(FAM53A):c.81G>T (p.Gln27His)	FAM53A (Q27H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407099	NM_001174070.3(FAM53A):c.499G>A (p.Ala167Thr)	FAM53A (A167T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403297	NM_001174070.3(FAM53A):c.364C>T (p.Arg122Trp)	FAM53A (R122W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386298	NM_001174070.3(FAM53A):c.839C>T (p.Ala280Val)	FAM53A (A280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381543	NM_001174070.3(FAM53A):c.460G>A (p.Asp154Asn)	FAM53A (D154N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366921	NM_001174070.3(FAM53A):c.1094G>A (p.Arg365His)	FAM53A (R365H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365210	NM_001174070.3(FAM53A):c.395G>A (p.Arg132His)	FAM53A (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334285	NM_001174070.3(FAM53A):c.806G>A (p.Arg269Lys)	FAM53A (R269K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327086	NM_001174070.3(FAM53A):c.946C>T (p.Pro316Ser)	FAM53A (P316S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324269	NM_001174070.3(FAM53A):c.332C>T (p.Ser111Leu)	FAM53A (S111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306110	NM_001174070.3(FAM53A):c.379C>T (p.Pro127Ser)	FAM53A (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302741	NM_001174070.3(FAM53A):c.1027C>T (p.Leu343Phe)	FAM53A (L343F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299973	NM_001174070.3(FAM53A):c.751G>T (p.Gly251Trp)	FAM53A (G251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294938	NM_001174070.3(FAM53A):c.889A>C (p.Lys297Gln)	FAM53A (K348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270968	NM_001174070.3(FAM53A):c.1144G>A (p.Val382Ile)	FAM53A (V382I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2260091	NM_001174070.3(FAM53A):c.790G>T (p.Val264Leu)	FAM53A (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228410	NM_001174070.3(FAM53A):c.401G>C (p.Arg134Pro)	FAM53A (R134P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808173	GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3	CRIPAK, CTBP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1703575	Single allele	FAM53A, PIGG +29 more	Complex	Heart, malformation of	GPathogenic
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	DOK7, FAM193A +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341163	GRCh37/hg19 4p16.3(chr4:68345-1675143)x1	ATP5ME, CPLX1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1340420	GRCh37/hg19 4p16.3(chr4:1537623-1740152)x3	FAM53A, SLBP +2 more	Copy number gain	not provided	GLikely benign
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1075075	NC_000004.11:g.(?_1619775)_(2181192_?)del	FAM53A, FGFR3 +9 more	Deletion	not provided	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 983182	GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3	FAM53A, SLBP +4 more	Copy number gain	See cases	GLikely pathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979464	GRCh37/hg19 4p16.3(chr4:1377513-1725206)x3	NKX1-1, FAM53A +5 more	Copy number gain	not provided	GUncertain significance
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979458	GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	POLN, CPLX1 +34 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 788405	NM_001174070.3(FAM53A):c.384G>A (p.Glu128=)	FAM53A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788404	NM_001174070.3(FAM53A):c.630C>T (p.Ser210=)	FAM53A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788403	NM_001174070.3(FAM53A):c.827G>A (p.Arg276His)	FAM53A (R276H)	Single nucleotide variant (missense variant)	not provided	GBenign

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