"GeneDx"[submitter] AND "CHCHD2"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 1288844	NM_016139.4(CHCHD2):c.*125G>A	CHCHD2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1278162	NM_016139.4(CHCHD2):c.*45dup	CHCHD2	Duplication (frameshift variant +2 more)	not provided	GBenign
Select item 1300703	NM_016139.4(CHCHD2):c.446-120dup	CHCHD2	Duplication (intron variant)	not provided	GLikely benign
Select item 1288912	NM_016139.4(CHCHD2):c.445+113T>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180406	NM_016139.4(CHCHD2):c.300+159T>G	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1310950	NM_016139.4(CHCHD2):c.293C>T (p.Thr98Ile)	CHCHD2 (T98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303535	NM_016139.4(CHCHD2):c.238A>G (p.Ile80Val)	CHCHD2 (I80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368412	NM_016139.4(CHCHD2):c.167T>C (p.Met56Thr)	CHCHD2 (M56T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497838	NM_016139.4(CHCHD2):c.145_147delinsTCC (p.Ala49Ser)	CHCHD2 (A49S)	Indel (missense variant)	not provided	GUncertain significance
Select item 1273678	NM_016139.4(CHCHD2):c.51-193A>G	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244868	NM_016139.4(CHCHD2):c.51-210C>T	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178952	NM_016139.4(CHCHD2):c.50+241T>C	CHCHD2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326121	NM_016139.4(CHCHD2):c.50+104C>A	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249350	NM_016139.4(CHCHD2):c.50+87T>C	CHCHD2, LOC129998502	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275589	NM_016139.4(CHCHD2):c.-9T>G	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271682	NM_016139.4(CHCHD2):c.-34C>A	CHCHD2, LOC129998502	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1326031	NC_000007.14:g.56106478A>C	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign
Select item 1706796	NM_016139.3(CHCHD2):c.-93C>A	CHCHD2, LOC129998502	Single nucleotide variant	not provided	GLikely benign
Select item 1294577	NC_000007.14:g.56106658C>G	CHCHD2	Single nucleotide variant	not provided	GBenign
Select item 1294576	NC_000007.14:g.56106662del	CHCHD2	Deletion	not provided	GBenign
Select item 1269275	NC_000007.14:g.56106697_56106698dup	CHCHD2	Duplication	not provided	GBenign
Select item 1272336	NC_000007.14:g.56106859_56106860del	CHCHD2	Deletion	not provided	GBenign
Select item 1261268	NC_000007.14:g.56106932C>T	CHCHD2	Single nucleotide variant	not provided	GBenign
Select item 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance
Select item 3361066	NM_016139.4(CHCHD2):c.300G>C (p.Gln100His)	CHCHD2 (Q100H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 27