7388[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 3186887	NM_006004.4(UQCRH):c.16G>A (p.Glu6Lys)	UQCRH (E6K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2525925	NM_006004.4(UQCRH):c.40G>C (p.Gly14Arg)	UQCRH (G14R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1801224	NM_006004.4(UQCRH):c.55-527_243+48del	UQCRH	Deletion (splice acceptor variant +2 more)	Mitochondrial complex 3 deficiency, nuclear type 11	GPathogenic
Select item 2477480	NM_006004.4(UQCRH):c.149T>C (p.Leu50Pro)	UQCRH (L44P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473265	NM_006004.4(UQCRH):c.155T>G (p.Leu52Arg)	UQCRH (L43R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495299	NM_006004.4(UQCRH):c.252C>G (p.His84Gln)	UQCRH (H78Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638798	NM_006004.4(UQCRH):c.256C>A (p.Leu86Ile)	UQCRH (L77I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 816515	GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3	UQCRH, DMBX1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 814072	GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3	LURAP1, TSPAN1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 443026	GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3	DMBX1, FAAH +11 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395564	GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3	ATPAF1, CYP4B1 +10 more	Copy number gain	See cases	GUncertain significance