1837[HGNC] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 2396040	NM_001806.4(CEBPG):c.31C>G (p.Pro11Ala)	CEBPG (P11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365827	NM_001806.4(CEBPG):c.94C>T (p.Pro32Ser)	CEBPG (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532832	NM_001806.4(CEBPG):c.110C>T (p.Ala37Val)	CEBPG (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551638	NM_001806.4(CEBPG):c.119G>C (p.Gly40Ala)	CEBPG (G40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478985	NM_001806.4(CEBPG):c.142C>G (p.Pro48Ala)	CEBPG (P48A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141871	NM_001806.4(CEBPG):c.169C>T (p.Pro57Ser)	CEBPG (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265697	NM_001806.4(CEBPG):c.230A>G (p.Lys77Arg)	CEBPG (K77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607514	NM_001806.4(CEBPG):c.353T>G (p.Leu118Arg)	CEBPG (L118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141872	NM_001806.4(CEBPG):c.434G>A (p.Gly145Asp)	CEBPG (G145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 687053	GRCh37/hg19 19q13.11(chr19:33842279-33986911)x3	CEBPG, PEPD	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
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 442995	GRCh37/hg19 19q13.11(chr19:33762256-34353184)x1	CEBPA, CEBPG +3 more	Copy number loss	See cases	GLikely benign
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 27