11428[HGNC] - ClinVar

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Items: 49

	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 59113	GRCh38/hg38 19p13.13(chr19:12850595-13290954)x3	CACNA1A, CALR +96 more	Copy number gain	See cases	GPathogenic
Select item 149139	GRCh38/hg38 19p13.13(chr19:12974394-13408586)x1	CACNA1A, DAND5 +58 more	Copy number loss	See cases	GPathogenic
Select item 147360	GRCh38/hg38 19p13.13(chr19:12978943-13236134)x3	CACNA1A, IER2 +50 more	Copy number gain	See cases	GUncertain significance
Select item 146026	GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1	CACNA1A, IER2 +52 more	Copy number loss	See cases	GPathogenic
Select item 2223374	NM_003765.3(STX10):c.680G>A (p.Arg227Gln)	STX10 (R227Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3171720	NM_003765.3(STX10):c.671G>A (p.Ser224Asn)	STX10 (S175N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2597772	NM_003765.3(STX10):c.631G>A (p.Gly211Arg)	STX10 (G162R +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2519109	NM_003765.3(STX10):c.605T>G (p.Met202Arg)	STX10 (W201G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171719	NM_003765.3(STX10):c.584T>C (p.Leu195Pro)	STX10 (L146P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546568	NM_003765.3(STX10):c.547C>T (p.Arg183Cys)	STX10 (R183C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487061	NM_003765.3(STX10):c.428C>T (p.Ser143Leu)	STX10 (S143L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385583	NM_003765.3(STX10):c.421G>A (p.Ala141Thr)	STX10 (A141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331812	NM_003765.3(STX10):c.368T>C (p.Leu123Pro)	STX10 (L123P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323453	NM_003765.3(STX10):c.351G>T (p.Arg117Ser)	STX10 (R117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214620	NM_003765.3(STX10):c.334G>A (p.Val112Ile)	STX10 (V112I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3323452	NM_003765.3(STX10):c.259G>A (p.Glu87Lys)	STX10 (E87K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272885	NM_003765.3(STX10):c.199A>G (p.Thr67Ala)	STX10 (T67A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171718	NM_003765.3(STX10):c.174G>C (p.Glu58Asp)	STX10 (E58D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171717	NM_003765.3(STX10):c.171C>G (p.Ile57Met)	STX10 (I57M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485509	NM_003765.3(STX10):c.152G>A (p.Arg51Gln)	STX10 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403392	NM_003765.3(STX10):c.133T>C (p.Trp45Arg)	STX10 (W45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298911	NM_003765.3(STX10):c.4T>G (p.Ser2Ala)	STX10 (S2A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248504	NC_000019.9:g.(?_13249921)_(13318882_?)dup	CACNA1A, IER2 +2 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3242727	NC_000019.9:g.(?_13183841)_(13617038_?)del	CACNA1A, IER2 +5 more	Deletion	not provided	GUncertain significance
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2423756	NC_000019.9:g.(?_13135448)_(13419362_?)dup	CACNA1A, IER2 +5 more	Duplication	Developmental and epileptic encephalopathy, 42 +3 more	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 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 1003316	NC_000019.9:g.(?_13135448)_(13574132_?)dup	NACC1, CACNA1A +5 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 473244	NC_000019.9:g.(?_13106632)_(13428155_?)del	CACNA1A, IER2 +5 more	Deletion	Marshall-Smith syndrome +1 more	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 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
Select item 394960	GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3	CACNA1A, IER2 +5 more	Copy number gain	See cases	GLikely pathogenic

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Items: 49