MIR96[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	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 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	LOC129999653, LOC129999654 +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 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999356, LOC129999357 +284 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	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 1279599	NC_000007.14:g.129774400G>A	MIR96	Single nucleotide variant	not provided	GBenign
Select item 1307012	NC_000007.14:g.129774566C>T	MIR96	Single nucleotide variant	not provided	GLikely benign
Select item 1303734	NC_000007.14:g.129774674G>A	MIR96	Single nucleotide variant	not provided	GLikely benign
Select item 2965048	NR_029512.1(MIR96):n.69A>G	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 1065110	NR_029512.1(MIR96):n.68A>G	MIR96	Single nucleotide variant (non-coding transcript variant)	Hearing impairment	GUncertain significance
Select item 163976	NR_029512.1(MIR96):n.42C>T	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 1504423	NR_029512.1(MIR96):n.39C>T	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 163977	NR_029512.1(MIR96):n.36T>C	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided +1 more	GBenign/Likely benign
Select item 1363077	NR_029512.1(MIR96):n.14C>T	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 866	NR_029512.1(MIR96):n.14C>A	MIR96	Single nucleotide variant (non-coding transcript variant)	Autosomal dominant nonsyndromic hearing loss 50	GPathogenic
Select item 865	NR_029512.1(MIR96):n.13G>A	MIR96	Single nucleotide variant (non-coding transcript variant)	Autosomal dominant nonsyndromic hearing loss 50	GPathogenic
Select item 1989176	NR_029512.1(MIR96):n.5C>T	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1466272	NR_029512.1(MIR96):n.4C>T	MIR96	Single nucleotide variant (non-coding transcript variant)	not provided	GUncertain significance
Select item 667262	NC_000007.14:g.129774774G>A	MIR96	Single nucleotide variant	not specified	GUncertain significance
Select item 163973	NR_029615.1(MIR183):n.51G>T	MIR183, MIR96	Single nucleotide variant (non-coding transcript variant)	not specified +1 more	GLikely benign
Select item 1308225	NC_000007.14:g.129775020C>A	MIR96	Single nucleotide variant	not provided	GLikely benign
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	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 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 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 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 667263	Single allele	MIR96	Deletion	not specified	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	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 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

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Items: 41