18803[HGNC] - ClinVar - NCBI

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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 3024987	NM_001394565.1(ATPAF1):c.879C>G (p.Thr293=)	ATPAF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2472785	NM_001394565.1(ATPAF1):c.847G>A (p.Asp283Asn)	ATPAF1 (D132N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132088	NM_001394565.1(ATPAF1):c.614A>T (p.Glu205Val)	ATPAF1 (E117V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306270	NM_001394565.1(ATPAF1):c.166C>T (p.Pro56Ser)	ATPAF1 (P79S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397884	NM_001394565.1(ATPAF1):c.93C>A (p.Ser31Arg)	ATPAF1 (S54R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397883	NM_001394565.1(ATPAF1):c.92G>A (p.Ser31Asn)	ATPAF1 (S54N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550625	NM_001394565.1(ATPAF1):c.64C>T (p.Leu22Phe)	ATPAF1 (L45F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606128	NM_001394565.1(ATPAF1):c.-8G>C	ATPAF1 (G21A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385988	NM_022745.6(ATPAF1):c.16G>T (p.Gly6Trp)	ATPAF1 (G6W)	Single nucleotide variant (missense variant)	not specified	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 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 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