54927[Gene ID] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	COPG2, COPG2IT1 +342 more	Copy number loss	See cases	GPathogenic
Select item 57379	GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3	AHCYL2, ATP6V1F +233 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 3266814	NM_017812.4(CHCHD3):c.677G>A (p.Gly226Glu)	CHCHD3 (G226E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532420	NM_017812.4(CHCHD3):c.602C>A (p.Thr201Asn)	CHCHD3 (T201N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515806	NM_017812.4(CHCHD3):c.583C>T (p.Arg195Cys)	CHCHD3 (R200C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 2494429	NM_017812.4(CHCHD3):c.448G>A (p.Glu150Lys)	CHCHD3 (E155K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490847	NM_017812.4(CHCHD3):c.395G>A (p.Arg132Gln)	CHCHD3 (R132Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266809	NM_017812.4(CHCHD3):c.370G>T (p.Ala124Ser)	CHCHD3 (A129S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329853	NM_017812.4(CHCHD3):c.358G>A (p.Ala120Thr)	CHCHD3 (A120T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144063	NM_017812.4(CHCHD3):c.350G>A (p.Arg117His)	CHCHD3 (R117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266812	NM_017812.4(CHCHD3):c.325G>A (p.Glu109Lys)	CHCHD3 (E109K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214201	NM_017812.4(CHCHD3):c.259C>G (p.Gln87Glu)	CHCHD3 (Q87E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389203	NM_017812.4(CHCHD3):c.238G>A (p.Glu80Lys)	CHCHD3 (E80K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266813	NM_017812.4(CHCHD3):c.155C>T (p.Ala52Val)	CHCHD3 (A52V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144062	NM_017812.4(CHCHD3):c.119C>T (p.Ser40Phe)	CHCHD3 (S40F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621679	NM_017812.4(CHCHD3):c.104G>A (p.Arg35Gln)	CHCHD3 (R35Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1808208	GRCh37/hg19 7q32.1-33(chr7:129147455-132777678)x1	CEP41, CHCHD3 +25 more	Copy number loss	not provided	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1527394	GRCh37/hg19 7q31.33-33(chr7:124103982-134693590)	BPGM, CALD1 +65 more	Copy number loss	not specified	GPathogenic
Select item 1527391	GRCh37/hg19 7q31.33-33(chr7:123967475-132729981)	ZC3HC1, ZNF800 +55 more	Copy number loss	not specified	GPathogenic
Select item 979795	GRCh37/hg19 7q32.2-33(chr7:129605827-133093756)x3	CPA5, MEST +20 more	Copy number gain	not provided	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815036	GRCh37/hg19 7q32.3-33(chr7:131443245-133276729)x3	PLXNA4, EXOC4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815035	GRCh37/hg19 7q32.3-33(chr7:130604326-133333388)x3	PLXNA4, CHCHD3 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815034	GRCh37/hg19 7q32.2-33(chr7:129997717-133355098)x3	MIR29A, MIR335 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686705	GRCh37/hg19 7q33(chr7:132665541-133087547)x3	CHCHD3, EXOC4	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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Items: 52