11299[HGNC] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 2215500	NM_003134.6(SRP14):c.383C>T (p.Ala128Val)	SRP14 (A80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645164	NM_003134.6(SRP14):c.370_381del (p.Pro124_Ala127del)	SRP14	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 3322656	NM_003134.6(SRP14):c.373A>C (p.Thr125Pro)	SRP14 (T125P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402822	NC_000015.10:g.40036374G>C	EIF2AK4, SRP14 (P124A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2237023	NM_003134.6(SRP14):c.364A>G (p.Thr122Ala)	SRP14 (T122A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517943	NM_003134.6(SRP14):c.332C>T (p.Ala111Val)	SRP14 (A111V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402823	NC_000015.10:g.40036464G>A	EIF2AK4, SRP14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2354839	NM_003134.6(SRP14):c.146T>G (p.Phe49Cys)	SRP14 (F49C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3322655	NM_003134.6(SRP14):c.54G>C (p.Gln18His)	SRP14 (Q18H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 1526444	GRCh37/hg19 15q15.1(chr15:40132892-40511958)	BMF, BUB1B +4 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 564194	GRCh37/hg19 15q14-15.1(chr15:38170429-40775075)x1	THBS1, EIF2AK4 +22 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 221498	GRCh37/hg19 15q14-15.1(chr15:39874092-40492503)x3	BUB1B, EIF2AK4 +5 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 22