ClinVar for Gene (Select 145645) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 2425892	NC_000015.9:g.(?_45152372)_(45390276_?)dup	DUOX2, SORD +1 more	Duplication	not provided	GUncertain significance
Select item 2424189	NC_000015.9:g.(?_45152372)_(45670651_?)dup	DUOX1, DUOX2 +7 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2343941	NM_152448.3(TERB2):c.74G>T (p.Gly25Val)	TERB2 (G25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251408	NM_152448.3(TERB2):c.343G>A (p.Glu115Lys)	TERB2 (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247248	NM_152448.3(TERB2):c.275G>T (p.Cys92Phe)	TERB2 (C92F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526450	GRCh37/hg19 15q21.1(chr15:45056077-45772114)	C15orf48, DUOX1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526447	GRCh37/hg19 15q15.2-21.2(chr15:42850434-49592633)	BLOC1S6, C15orf48 +61 more	Copy number loss	not specified	GPathogenic
Select item 1340659	GRCh37/hg19 15q21.1(chr15:45082548-45289755)x3	TERB2	Copy number gain	not provided	GUncertain significance
Select item 1326958	NM_152448.3(TERB2):c.544dup (p.Met182fs)	TERB2 (M182fs)	Duplication (frameshift variant)	Spermatogenic failure 59	GPathogenic
Select item 1326957	NM_152448.3(TERB2):c.457_458del (p.Thr153fs)	TERB2 (T153fs)	Deletion (frameshift variant)	Spermatogenic failure 59	GPathogenic
Select item 1244236	NM_152448.3(TERB2):c.434G>A (p.Ser145Asn)	TERB2 (S145N)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia	GLikely pathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 1007236	NC_000015.9:g.(?_44855319)_(45898712_?)dup	AFG2B, DUOX2 +15 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 980034	GRCh37/hg19 15q21.1(chr15:45056077-45772378)x3	SORD, TERB2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 685684	GRCh37/hg19 15q21.1(chr15:45063803-45772378)x3	C15orf48, DUOX1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	LOC130056982, LOC121847946 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 564199	GRCh37/hg19 15q21.1(chr15:45087756-45289755)x3	TERB2	Copy number gain	not provided	GUncertain significance
Select item 564198	GRCh37/hg19 15q21.1(chr15:44890130-45381998)x3	TERB2, SPG11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 564197	GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1	AP4E1, ARPP19 +76 more	Copy number loss	not provided	GPathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 442681	GRCh37/hg19 15q21.1(chr15:45056077-45772114)x3	AFG2B, C15orf48 +10 more	Copy number gain	See cases	GUncertain significance
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 253933	GRCh37/hg19 15q21.1(chr15:45059827-45725363)x3	C15orf48, TERB2 +10 more	Copy number gain	See cases	GUncertain significance
Select item 253923	GRCh37/hg19 15q15.3-21.1(chr15:44484701-47475522)x1	DUOXA2, SHF +20 more	Copy number loss	See cases	GUncertain significance
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 31