Table 2 Variant summary.

Individual	Variant	Inheritance	Type	Position (Hg19)	Size (Mb)	Exon/intron
1	arr[GRCh37] 6p22.3(15374392_15405436)x1	De novo	Deletion	15374392–15405436	0.03	Exon 2
2	arr[GRCh37] 6p22.3(15330889_15419256)x1	De novo	Deletion	15330889–15419256	0.09	Exons 2–3
3	arr[GRCh37] 6p22.3(15291644_15388348)x1	De novo	Deletion	15291644–15388348	0.1	Exon 2
4	arr[GRCh37] 6p22.3(15298601_15417235)x1	De novo	Deletion	15298601–15417235	0.12	Exons 2–3
5	arr[GRCh37] 6p22.3(15334789_15479224)x1	Paternal (individual 6 is father)	Deletion	15334789–15479224	0.14	Exons 2–5
6	arr[GRCh37] 6p22.3(15346717_15481262)x1	Unknown	Deletion	15346717–15481262	0.14	Exons 2–5
7^a	arr[GRCh37] 6p23p22.3(15177338_15382780)x1	Unknown	Deletion	15177338–15382780	0.205	Exons 1–2
8	arr[GRCh37] 6p22.3(15222515_15547476)x1	De novo	Deletion	15222515–15547476	0.32	All (exons 1–18)
9^b	c.2866dupG, p.(Glu956GlyfsTer72)	De novo	Frameshift	15511547		Exon 13
10^c	c.2341C>T, p.(Gln781Ter)	Unknown	Nonsense	15501533		Exon 8
11	c.3344dupG, p.(Ser1116GlnfsTer71)	De novo	Frameshift	15513546		Exon 16
12^d	c.3379C>T, p.(Arg1127Ter)	De novo	Nonsense	15513582		Exon 16
13	c.2731+1G>C	De novo	Splice site	15507648		Intron 11
14	c.351T>G, p.(Phe117Leu)	De novo	Missense	15452264		Exon 4
15^e	c.2363G>A, p.(Arg788Gln)	De novo	Missense	15501555		Exon 8
16	c.1930G>A, p.(Glu644Lys)	De novo	Missense	15497386		Exon 7

All variants based on NM_004973.4.
^aIndividual also has a maternally inherited pathogenic PKP2 variant (associated with arrhythmogenic right ventricular cardiomyopathy [ARVC]).
^bIndividual also has a likely benign duplication of chromosome 15q13.3 (0.432 Mb).
^cIndividual also has a c.5046 G>C, p.(Leu1682Phe) variant in ZNF292.
^dIndividual also has compound heterozygous likely pathogenic variants in MRFP and a maternally inherited variant of unknown significance in ZNF711 (c.1199G>A, p.[Arg400Lys]).
^eIndividual also has two de novo TNRC18 variants: c.2291A>T, p.(His764Leu) and del(7)(p22.1p22.1).

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