ClinVar for Gene (Select 101928861) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062967	GRCh37/hg19 7q33(chr7:133106198-133629966)x1	EXOC4, LOC101928861	Copy number loss	not specified	GUncertain significance
Select item 2673130	NM_021807.4(EXOC4):c.1613A>G (p.Asn538Ser)	EXOC4, LOC101928861 (N538S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 1809080	GRCh37/hg19 7q33(chr7:133362367-133523045)x1	EXOC4, LOC101928861	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 1527401	GRCh37/hg19 7q33(chr7:133074434-133508763)	EXOC4, LOC101928861	Copy number loss	not specified	GUncertain significance
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 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
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 720425	NM_021807.4(EXOC4):c.1648G>A (p.Gly550Arg)	EXOC4, LOC101928861 (G550R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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	MIR183, PARP12 +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 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 563388	GRCh37/hg19 7q33(chr7:133064191-134008520)x3	EXOC4, LOC101928861 +2 more	Copy number gain	not provided	GLikely benign
Select item 563367	GRCh37/hg19 7q33(chr7:132996959-133586089)x1	LOC101928861, EXOC4	Copy number loss	not provided	GUncertain significance
Select item 442889	GRCh37/hg19 7q33(chr7:133302761-133830628)x1	EXOC4, LOC101928861 +1 more	Copy number loss	See cases	GLikely benign
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +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
Select item 183330	NM_021807.4(EXOC4):c.1733A>G (p.Gln578Arg)	LOC101928861, EXOC4 (Q578R)	Single nucleotide variant (missense variant)	Meckel-Gruber syndrome	GLikely pathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 151558	GRCh38/hg38 7q33(chr7:133798485-133889223)x1	EXOC4, LOC101928861	Copy number loss	See cases	GUncertain significance
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150834	GRCh38/hg38 7q33(chr7:133709960-133963963)x1	EXOC4, LOC101928861 +1 more	Copy number loss	See cases	GUncertain significance
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144252	GRCh38/hg38 7q33(chr7:133427347-133930321)x1	EXOC4, LOC101928861 +3 more	Copy number loss	See cases	GUncertain significance
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	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 57331	GRCh38/hg38 7q33(chr7:133385456-134378422)x3	EXOC4, LOC101928861 +15 more	Copy number gain	See cases	GUncertain significance
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47