1455[HGNC] - ClinVar

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Items: 68

	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 3048325	NC_000019.10:g.12938397C>A	CALR, LOC117125596	Single nucleotide variant	CALR-related disorder	GLikely benign
Select item 1239846	NC_000019.10:g.12938466A>C	CALR, LOC117125596	Single nucleotide variant	not provided	GBenign
Select item 2501571	NM_004343.3(CALR):c.-79C>T	CALR, LOC117125596	Single nucleotide variant	not provided	GLikely benign
Select item 1290353	NM_004343.4(CALR):c.-21T>C	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1269519	NM_004343.4(CALR):c.-4C>T	CALR, LOC117125596	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2549201	NM_004343.4(CALR):c.50C>G (p.Ala17Gly)	CALR, LOC117125596 (A17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525549	NM_004343.4(CALR):c.50C>T (p.Ala17Val)	CALR, LOC117125596 (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302004	NM_004343.4(CALR):c.88G>C (p.Gly30Arg)	CALR, LOC117125596 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309782	NM_004343.4(CALR):c.101C>T (p.Thr34Ile)	CALR (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136755	NM_004343.4(CALR):c.114C>G (p.Ile38Met)	CALR (I38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359346	NM_004343.4(CALR):c.148G>C (p.Val50Leu)	CALR (V50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764942	NM_004343.4(CALR):c.170A>G (p.Tyr57Cys)	CALR (Y57C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1257047	NM_004343.4(CALR):c.193+41C>G	CALR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283203	NM_004343.4(CALR):c.194-41A>G	CALR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 761698	NM_004343.4(CALR):c.231G>T (p.Leu77=)	CALR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2399432	NM_004343.4(CALR):c.277G>A (p.Val93Met)	CALR (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	CALR-related disorder +1 more	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
Select item 1290413	NM_004343.4(CALR):c.960+290A>G	CALR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281606	NM_004343.4(CALR):c.961-239G>A	CALR	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 790753	NM_004343.4(CALR):c.1011A>G (p.Ala337=)	CALR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281371	NM_004343.4(CALR):c.1031A>G (p.Asn344Ser)	CALR (N344S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 97006	NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs)	CALR (L367fs)	Deletion (frameshift variant)	Thrombocythemia 1 +3 more	GPathogenic STier I - Strong OUncertain significance
Select item 771513	NM_004343.4(CALR):c.1142A>C (p.Glu381Ala)	CALR (E381A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3065752	NM_004343.4(CALR):c.1154_1155insTGTCG (p.Lys385fs)	CALR (K385fs)	Insertion (frameshift variant)	Primary myelofibrosis	GUncertain significance
Select item 1028735	NM_004343.4(CALR):c.1154_1155insTTGTC (p.Lys385fs)	CALR (K385fs)	Insertion (frameshift variant)	Thrombocythemia 1	GPathogenic
Select item 1049876	NM_004343.4(CALR):c.1182TGAGGAGGA[3] (p.395EED[3])	CALR	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2305786	NM_004343.4(CALR):c.1186G>A (p.Glu396Lys)	CALR (E396K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032277	NM_004343.4(CALR):c.1194GGA[1] (p.Glu399del)	CALR (E399del)	Microsatellite (inframe_indel +1 more)	CALR-related disorder	GUncertain significance
Select item 1224554	NM_004343.4(CALR):c.*54G>T	CALR	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
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 1511662	NC_000019.9:g.(?_12917488)_(13205463_?)del	KLF1, MAST1 +11 more	Deletion	not provided	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	DHPS, DNASE2 +29 more	Deletion	Episodic ataxia type 2 +2 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	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 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 68