CHCHD4[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 155699	GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3	ARPC4, ARPC4-TTLL3 +307 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 152460	GRCh38/hg38 3p25.1(chr3:14107045-14118741)x3	CHCHD4	Copy number gain	See cases	GLikely benign
Select item 2271503	NM_001098502.2(CHCHD4):c.358C>G (p.Pro120Ala)	CHCHD4 (P120A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613805	NM_001098502.2(CHCHD4):c.292A>C (p.Met98Leu)	CHCHD4 (M98L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351911	NM_001098502.2(CHCHD4):c.275G>A (p.Arg92Gln)	CHCHD4 (R105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389757	NM_001098502.2(CHCHD4):c.274C>T (p.Arg92Trp)	CHCHD4 (R92W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144066	NM_001098502.2(CHCHD4):c.236C>T (p.Thr79Met)	CHCHD4 (T79M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611354	NM_001098502.2(CHCHD4):c.184G>A (p.Gly62Ser)	CHCHD4 (G62S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775847	NM_001098502.2(CHCHD4):c.122-7G>A	CHCHD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2476818	NM_001098502.2(CHCHD4):c.50A>C (p.Lys17Thr)	CHCHD4 (K17T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464823	NM_001098502.2(CHCHD4):c.22+2729G>A	CHCHD4 (A18T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144065	NM_001098502.2(CHCHD4):c.22+2693T>C	CHCHD4 (S6P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266815	NM_001098502.2(CHCHD4):c.22+2688C>T	CHCHD4 (S4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 684005	NM_024334.2(TMEM43):c.-414C>T	CHCHD4, TMEM43	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 34