MINAR2[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 146646	GRCh38/hg38 5q23.3(chr5:129434947-129762848)x3	ADAMTS19, ADAMTS19-AS1 +1 more	Copy number gain	See cases	GBenign
Select item 147728	GRCh38/hg38 5q23.3(chr5:129444185-129973967)x3	ADAMTS19, ADAMTS19-AS1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3347059	NM_001257308.2(MINAR2):c.84C>G (p.Ala28=)	MINAR2	Single nucleotide variant (synonymous variant)	MINAR2-related condition	GLikely benign
Select item 2443700	NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)	MINAR2 (W48*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 120	GPathogenic
Select item 2673026	NM_001257308.2(MINAR2):c.238C>T (p.Pro80Ser)	MINAR2 (P80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356684	NM_001257308.2(MINAR2):c.310G>A (p.Glu104Lys)	MINAR2 (E104K)	Single nucleotide variant (missense variant)	MINAR2-related condition	GLikely benign
Select item 2443702	NM_001257308.2(MINAR2):c.393G>T (p.Lys131Asn)	MINAR2 (K131N)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive 120	GPathogenic
Select item 2443701	NM_001257308.2(MINAR2):c.412_419del (p.Arg138fs)	MINAR2 (R138fs)	Deletion (frameshift variant)	Hearing loss, autosomal recessive 120	GPathogenic
Select item 3355390	NM_001257308.2(MINAR2):c.412C>T (p.Arg138Trp)	MINAR2 (R138W)	Single nucleotide variant (missense variant)	MINAR2-related condition	GLikely benign
Select item 3025031	NM_001257308.2(MINAR2):c.522C>T (p.Val174=)	MINAR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684429	GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3	ADAMTS19, CHSY3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1809208	GRCh37/hg19 5q23.3(chr5:128717761-129797845)x4	ADAMTS19, CHSY3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814745	GRCh37/hg19 5q23.3(chr5:128748553-129357269)x4	ADAMTS19, CHSY3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 29