LOC130058210[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 152270	GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1	LOC130058209, LOC130058210 +3 more	Copy number loss	See cases	GPathogenic
Select item 663405	NC_000016.9:g.(?_2089915)_(2110824_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 642056	NC_000016.9:g.(?_2089915)_(2138621_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 57089	GRCh38/hg38 16p13.3(chr16:2046988-2060016)x3	LOC130058209, LOC130058210 +2 more	Copy number gain	See cases	GUncertain significance
Select item 1696837	NC_000016.10:g.2047157_2220112del	BRICD5, CASKIN1 +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 885579	NM_000548.5(TSC2):c.-72T>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 318303	NM_000548.5(TSC2):c.-65G>C	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 420608	NM_000548.5(TSC2):c.-50_-43dup	LOC130058210, TSC2	Duplication (5 prime UTR variant)	not specified	GLikely benign
Select item 420318	NM_000548.5(TSC2):c.-51_-36delinsCGCGCTC	LOC130058210, TSC2	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 1243273	NM_000548.5(TSC2):c.-48C>G	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2707744	NM_000548.5(TSC2):c.-47_-30+2del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GUncertain significance
Select item 506728	NM_000548.5(TSC2):c.-45G>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383242	NM_000548.5(TSC2):c.-40C>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 207701	NM_000548.5(TSC2):c.-38C>T	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2202570	NM_000548.5(TSC2):c.-33_-30+10del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis syndrome +1 more	GUncertain significance
Select item 507556	NM_000548.5(TSC2):c.-36G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 3070132	NM_000548.5(TSC2):c.-30_-30+11del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis syndrome	GUncertain significance
Select item 378770	NM_000548.5(TSC2):c.-34G>A	LOC130058210, TSC2	Single nucleotide variant (5 prime UTR variant)	Tuberous sclerosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2730611	NM_000548.5(TSC2):c.-30+2_-30+22del	LOC130058210, TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GUncertain significance
Select item 207767	NM_000548.5(TSC2):c.-30+1G>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	Lymphangiomyomatosis +3 more	GUncertain significance
Select item 133423	NM_000548.5(TSC2):c.-30+1G>T	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 207788	NM_000548.5(TSC2):c.-30+2T>C	LOC130058210, TSC2	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 670053	NM_000548.5(TSC2):c.-30+25_-30+45del	LOC130058210, TSC2	Microsatellite (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 373780	NM_000548.5(TSC2):c.-30+5G>T	LOC130058210, TSC2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 677387	NM_000548.5(TSC2):c.-30+134C>T	LOC130058210, TSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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Items: 36