LOC126862861[gene] - ClinVar

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Items: 26

	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 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 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 1707162	NM_004343.4(CALR):c.398-157C>G	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 741199	NM_004343.4(CALR):c.507A>T (p.Thr169=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2248994	NM_004343.4(CALR):c.536A>G (p.Asp179Gly)	CALR, LOC126862861 (D179G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046043	NM_004343.4(CALR):c.566G>C (p.Ser189Thr)	CALR, LOC126862861 (S189T)	Single nucleotide variant (missense variant)	CALR-related disorder	GLikely benign
Select item 2311966	NM_004343.4(CALR):c.586T>G (p.Leu196Val)	CALR, LOC126862861 (L196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708616	NM_004343.4(CALR):c.606C>T (p.Phe202=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2381152	NM_004343.4(CALR):c.647C>T (p.Pro216Leu)	CALR, LOC126862861 (P216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649360	NM_004343.4(CALR):c.682C>T (p.Pro228Ser)	CALR, LOC126862861 (P228S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3036651	NM_004343.4(CALR):c.703-3del	CALR, LOC126862861 +1 more	Deletion (non-coding transcript variant +1 more)	CALR-related disorder	GLikely benign
Select item 785826	NM_004343.4(CALR):c.750C>G (p.Pro250=)	CALR, LOC126862861	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 784388	NM_004343.4(CALR):c.817-9C>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3051119	NM_004343.4(CALR):c.817-4G>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	CALR-related disorder	GLikely benign
Select item 2233331	NM_004343.4(CALR):c.817G>C (p.Gly273Arg)	CALR, LOC126862861 (G273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401105	NM_004343.4(CALR):c.836A>G (p.Gln279Arg)	CALR, LOC126862861 (Q279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136756	NM_004343.4(CALR):c.890C>A (p.Pro297His)	CALR, LOC126862861 (P297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1268130	NM_004343.4(CALR):c.960+128C>T	CALR, LOC126862861	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 26