ClinVar for Gene (Select 100127206) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025031	NM_001257308.2(MINAR2):c.522C>T (p.Val174=)	MINAR2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684429	GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3	ADAMTS19, CHSY3 +5 more	Copy number gain	not provided	GUncertain significance
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 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
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 2443700	NM_001257308.2(MINAR2):c.144G>A (p.Trp48Ter)	MINAR2 (W48*)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive 120	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	ARAP3, CCDC69 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +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	ABLIM3, CBY3 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	ADAMTS19, ADAMTS19-AS1 +688 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	ADAMTS19, ADAMTS19-AS1 +377 more	Copy number loss	See cases	GPathogenic
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 146646	GRCh38/hg38 5q23.3(chr5:129434947-129762848)x3	ADAMTS19, ADAMTS19-AS1 +1 more	Copy number gain	See cases	GBenign
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 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	ACSL6, ACSL6-AS1 +200 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 27