COMETT[gene] - ClinVar

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Items: 22

	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 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	ASZ1, CAPZA2 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 155346	GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1	CAPZA2, CAV1 +98 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 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 1166750	NM_000245.4(MET):c.-207C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Renal cell carcinoma +1 more	GBenign
Select item 13891	NM_000245.4(MET):c.-207=	COMETT, MET	Single nucleotide variant (no sequence alteration)	Autism, susceptibility to, 9	GUncertain significance
Select item 911964	NM_000245.4(MET):c.-182C>A	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GBenign
Select item 358677	NM_000245.4(MET):c.-180C>A	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358678	NM_000245.4(MET):c.-165C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358679	NM_000245.4(MET):c.-157T>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 911965	NM_000245.4(MET):c.-109C>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 1213443	NM_000245.4(MET):c.-81G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 358680	NM_000245.4(MET):c.-66G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 358681	NM_000245.4(MET):c.-64G>T	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 909032	NM_000245.4(MET):c.-35C>G	COMETT, MET	Single nucleotide variant (5 prime UTR variant)	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 676958	NM_000245.4(MET):c.-15+237del	COMETT, MET	Deletion (intron variant)	not provided	GLikely benign

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Items: 22