GET3[gene] - ClinVar

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Items: 44

	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 153423	GRCh38/hg38 19p13.2-13.13(chr19:12357905-12768046)x1	BEST2, DHPS +57 more	Copy number loss	See cases	GUncertain significance
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 3099418	NM_004317.4(GET3):c.23G>C (p.Trp8Ser)	GET3, LOC117038786 (W8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464719	NM_004317.4(GET3):c.28G>T (p.Val10Phe)	GET3, LOC117038786 (V10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551594	NM_004317.4(GET3):c.193C>T (p.Arg65Cys)	GET3 (R65C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281226	NM_004317.4(GET3):c.194G>A (p.Arg65His)	GET3 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219340	NM_004317.4(GET3):c.224C>G (p.Pro75Arg)	GET3 (P75R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2609797	NM_004317.4(GET3):c.280G>A (p.Val94Ile)	GET3 (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099419	NM_004317.4(GET3):c.335C>T (p.Ala112Val)	GET3 (A112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099420	NM_004317.4(GET3):c.472A>G (p.Met158Val)	GET3 (M158V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2443825	NM_004317.4(GET3):c.488T>C (p.Val163Ala)	GET3 (V163A)	Single nucleotide variant (missense variant)	Cardiomyopathy, dilated, 2H	GPathogenic
Select item 2493720	NM_004317.4(GET3):c.619A>T (p.Met207Leu)	GET3 (M207L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099421	NM_004317.4(GET3):c.682G>A (p.Val228Ile)	GET3 (V228I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522239	NM_004317.4(GET3):c.689G>A (p.Arg230His)	GET3 (R230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525367	NM_004317.4(GET3):c.850G>A (p.Asp284Asn)	GET3 (D284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099423	NM_004317.4(GET3):c.856G>A (p.Glu286Lys)	GET3 (E286K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626795	NM_004317.4(GET3):c.867C>G (p.Cys289Trp)	GET3	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 3281224	NM_004317.4(GET3):c.910G>C (p.Asp304His)	GET3 (D304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626794	NM_004317.4(GET3):c.913C>T (p.Gln305Ter)	GET3	Single nucleotide variant (nonsense)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 2443824	NM_004317.4(GET3):c.[867C>G;913C>T]	GET3	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy, dilated, 2H	GPathogenic
Select item 3281223	NM_004317.4(GET3):c.943A>G (p.Ile315Val)	GET3 (I315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542218	NM_004317.4(GET3):c.968A>G (p.His323Arg)	GET3 (H323R)	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 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
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	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 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)	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

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Items: 44