ClinVar for Gene (Select 7027) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3176496	NM_007111.5(TFDP1):c.868A>G (p.Thr290Ala)	TFDP1 (T290A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176495	NM_007111.5(TFDP1):c.790G>A (p.Val264Ile)	TFDP1 (V264I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176494	NM_007111.5(TFDP1):c.766G>C (p.Val256Leu)	TFDP1 (V256L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176493	NM_007111.5(TFDP1):c.744C>G (p.Ser248Arg)	TFDP1 (S248R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176492	NM_007111.5(TFDP1):c.727G>A (p.Ala243Thr)	TFDP1 (A243T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176491	NM_007111.5(TFDP1):c.411A>C (p.Glu137Asp)	TFDP1 (E137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3176490	NM_007111.5(TFDP1):c.1228G>A (p.Asp410Asn)	TFDP1 (D410N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	MCF2L, TFDP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684711	GRCh37/hg19 13q34(chr13:114282014-114568288)x3	ATP4B, GAS6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2588825	NM_007111.5(TFDP1):c.175G>A (p.Ala59Thr)	TFDP1 (A59T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010152, LOC130010153 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2554932	NM_007111.5(TFDP1):c.1191C>G (p.Asp397Glu)	TFDP1 (D397E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520049	NM_007111.5(TFDP1):c.127G>A (p.Gly43Arg)	TFDP1 (G43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472417	NM_007111.5(TFDP1):c.455A>T (p.His152Leu)	TFDP1 (H152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409713	NM_007111.5(TFDP1):c.34G>A (p.Gly12Arg)	TFDP1 (G12R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396200	NM_007111.5(TFDP1):c.1043C>T (p.Thr348Met)	TFDP1 (T348M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389432	NM_007111.5(TFDP1):c.949G>A (p.Glu317Lys)	TFDP1 (E317K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384432	NM_007111.5(TFDP1):c.922G>A (p.Gly308Arg)	TFDP1 (G308R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322193	NM_007111.5(TFDP1):c.704A>G (p.Asn235Ser)	TFDP1 (N235S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316831	NM_007111.5(TFDP1):c.1066G>A (p.Gly356Ser)	TFDP1 (G356S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216132	NM_007111.5(TFDP1):c.1194G>C (p.Glu398Asp)	TFDP1 (E398D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707446	GRCh37/hg19 13q34(chr13:114086431-114753211)x3	ADPRHL1, ATP4B +7 more	Copy number gain	See cases	GUncertain significance
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340607	GRCh37/hg19 13q34(chr13:114263719-114861495)x3	ATP4B, GAS6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979996	GRCh37/hg19 13q34(chr13:112069981-115107733)x3	ATP11AUN, UPF3A +23 more	Copy number gain	not provided	GLikely pathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815627	GRCh37/hg19 13q34(chr13:113990475-114264517)x3	GRTP1, TMCO3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 778731	NM_007111.5(TFDP1):c.33C>T (p.Asn11=)	TFDP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 716180	NM_007111.5(TFDP1):c.729G>A (p.Ala243=)	TFDP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687981	GRCh37/hg19 13q33.3-34(chr13:109203109-115107733)x3	ADPRHL1, ANKRD10 +36 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 686178	GRCh37/hg19 13q34(chr13:111568865-115107733)x1	ADPRHL1, ARHGEF7 +25 more	Copy number loss	not provided	GPathogenic
Select item 685672	GRCh37/hg19 13q34(chr13:114271714-114591051)x3	ATP4B, GAS6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685597	GRCh37/hg19 13q34(chr13:114270620-114808264)x3	ATP4B, GAS6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564074	GRCh37/hg19 13q33.3-34(chr13:109771548-115107733)x1	CDC16, MCF2L +36 more	Copy number loss	not provided	GPathogenic
Select item 564069	GRCh37/hg19 13q34(chr13:112530842-115107733)x1	CHAMP1, F7 +23 more	Copy number loss	not provided	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABHD13, ADPRHL1 +98 more	Copy number gain	See cases	GPathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 442271	GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	See cases	GPathogenic
Select item 442100	GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441710	GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1	ADPRHL1, ANKRD10 +36 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ERCC5, F10 +125 more	Copy number gain	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394630	GRCh37/hg19 13q34(chr13:112091743-115092510)x1	ADPRHL1, ATP11A +23 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	LINC03082, LOC100506016 +325 more	Copy number gain	See cases	GUncertain significance

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