26913[HGNC] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 2589993	NM_182513.4(SPC24):c.530G>T (p.Ser177Ile)	SPC24 (S177I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3322029	NM_182513.4(SPC24):c.499C>G (p.Pro167Ala)	SPC24 (P167A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2303086	NM_182513.4(SPC24):c.424C>G (p.Leu142Val)	SPC24 (L142V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3168695	NM_182513.4(SPC24):c.415G>A (p.Val139Met)	SPC24 (V82M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3037662	NM_182513.4(SPC24):c.411-17_411-15del	SPC24	Deletion (intron variant)	SPC24-related disorder	GLikely benign
Select item 2313712	NM_182513.4(SPC24):c.386C>T (p.Thr129Met)	SPC24 (T72M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304502	NM_182513.4(SPC24):c.299G>C (p.Ser100Thr)	SPC24 (S43T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322031	NM_182513.4(SPC24):c.286C>T (p.Arg96Cys)	SPC24 (R96C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322030	NM_182513.4(SPC24):c.272G>C (p.Gly91Ala)	SPC24 (G91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614940	NM_182513.4(SPC24):c.225G>C (p.Gln75His)	SPC24 (Q18H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376742	NM_182513.4(SPC24):c.77A>G (p.Gln26Arg)	SPC24 (Q26R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168697	NM_182513.4(SPC24):c.67G>T (p.Ala23Ser)	SPC24 (A23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168696	NM_182513.4(SPC24):c.44T>G (p.Leu15Arg)	SPC24 (L15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3248481	NC_000019.9:g.(?_11094828)_(11373116_?)dup	ANGPTL8, DOCK6 +4 more	Duplication	Rhabdoid tumor predisposition syndrome 2	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Deficiency of alpha-mannosidase +4 more	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395544	GRCh37/hg19 19p13.2(chr19:11258504-11317331)x3	DOCK6, KANK2 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 29