SLTM[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 57220	GRCh38/hg38 15q21.3-22.2(chr15:57456076-61907285)x1	LOC126862145, LOC126862146 +140 more	Copy number loss	See cases	GPathogenic
Select item 57882	GRCh38/hg38 15q21.3-22.2(chr15:57567950-63019415)x1	ADAM10, ALDH1A2 +163 more	Copy number loss	See cases	GPathogenic
Select item 3320598	NM_024755.4(SLTM):c.2980A>T (p.Ile994Leu)	SLTM (I976L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592240	NM_024755.4(SLTM):c.2948G>A (p.Arg983Gln)	SLTM (R965Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468187	NM_024755.4(SLTM):c.2930G>C (p.Ser977Thr)	SLTM (S977T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166176	NM_024755.4(SLTM):c.2863G>C (p.Glu955Gln)	SLTM (E937Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313376	NM_024755.4(SLTM):c.2770G>A (p.Ala924Thr)	SLTM (A906T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355437	NM_024755.4(SLTM):c.2749C>G (p.Pro917Ala)	SLTM (P899A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471459	NM_024755.4(SLTM):c.2747C>T (p.Ala916Val)	SLTM (A916V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526881	NM_024755.4(SLTM):c.2680C>T (p.Arg894Trp)	SLTM (R876W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166175	NM_024755.4(SLTM):c.2666T>C (p.Met889Thr)	SLTM (M871T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237455	NM_024755.4(SLTM):c.2638C>A (p.Pro880Thr)	SLTM (P862T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324694	NM_024755.4(SLTM):c.2627A>G (p.Asn876Ser)	SLTM (N858S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 617857	NM_024755.4(SLTM):c.2600C>A (p.Pro867His)	SLTM (P867H +1 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 3166174	NM_024755.4(SLTM):c.2593A>C (p.Thr865Pro)	SLTM (T847P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166173	NM_024755.4(SLTM):c.2578G>C (p.Asp860His)	SLTM (D842H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233262	NM_024755.4(SLTM):c.2558G>A (p.Arg853Lys)	SLTM (R835K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166172	NM_024755.4(SLTM):c.2540G>A (p.Arg847Gln)	SLTM (R829Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320586	NM_024755.4(SLTM):c.2531G>A (p.Arg844Gln)	SLTM (R826Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166171	NM_024755.4(SLTM):c.2438A>G (p.Asp813Gly)	SLTM (D795G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320597	NM_024755.4(SLTM):c.2417G>A (p.Arg806Gln)	SLTM (R788Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166169	NM_024755.4(SLTM):c.2306A>G (p.Asn769Ser)	SLTM (N751S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551452	NM_024755.4(SLTM):c.2270A>G (p.His757Arg)	SLTM (H757R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607328	NM_024755.4(SLTM):c.2240T>C (p.Leu747Ser)	SLTM (L729S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166168	NM_024755.4(SLTM):c.2123A>C (p.Glu708Ala)	SLTM (E708A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166167	NM_024755.4(SLTM):c.1997G>T (p.Arg666Leu)	SLTM (R648L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557588	NM_024755.4(SLTM):c.1994A>C (p.Glu665Ala)	SLTM (E665A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166166	NM_024755.4(SLTM):c.1975C>T (p.Arg659Cys)	SLTM (R659C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269972	NM_024755.4(SLTM):c.1957G>A (p.Glu653Lys)	SLTM (E635K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282490	NM_024755.4(SLTM):c.1628G>T (p.Ser543Ile)	SLTM (S525I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320599	NM_024755.4(SLTM):c.1616C>T (p.Ser539Leu)	SLTM (S539L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303952	NM_024755.4(SLTM):c.1490C>T (p.Ala497Val)	SLTM (A497V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310459	NM_024755.4(SLTM):c.1461T>A (p.Asn487Lys)	SLTM (N469K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871065	NM_024755.4(SLTM):c.1040C>A (p.Ala347Asp)	SLTM (A329D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2390943	NM_024755.4(SLTM):c.1013T>C (p.Leu338Ser)	SLTM (L338S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320587	NM_024755.4(SLTM):c.970A>G (p.Ser324Gly)	SLTM (S324G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300489	NM_024755.4(SLTM):c.952G>A (p.Glu318Lys)	SLTM (E318K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349562	NM_024755.4(SLTM):c.941G>T (p.Gly314Val)	SLTM (G296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320593	NM_024755.4(SLTM):c.902C>A (p.Ala301Glu)	SLTM (A301E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320592	NM_024755.4(SLTM):c.899A>C (p.Asn300Thr)	SLTM (N300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320585	NM_024755.4(SLTM):c.869C>T (p.Pro290Leu)	SLTM (P272L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320591	NM_024755.4(SLTM):c.859G>T (p.Ala287Ser)	SLTM (A269S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247851	NM_024755.4(SLTM):c.857T>C (p.Ile286Thr)	SLTM (I268T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366132	NM_024755.4(SLTM):c.703G>C (p.Val235Leu)	SLTM (V217L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320590	NM_024755.4(SLTM):c.700A>T (p.Thr234Ser)	SLTM (T216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350175	NM_024755.4(SLTM):c.679G>A (p.Glu227Lys)	SLTM (E209K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320589	NM_024755.4(SLTM):c.647G>A (p.Gly216Glu)	SLTM (G216E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166180	NM_024755.4(SLTM):c.632C>T (p.Pro211Leu)	SLTM (P211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320588	NM_024755.4(SLTM):c.593T>A (p.Ile198Lys)	SLTM (I198K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383583	NM_024755.4(SLTM):c.544A>G (p.Thr182Ala)	SLTM (T182A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166179	NM_024755.4(SLTM):c.454C>T (p.His152Tyr)	SLTM (H152Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517429	NM_024755.4(SLTM):c.422A>T (p.Glu141Val)	SLTM (E141V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409492	NM_024755.4(SLTM):c.389G>A (p.Gly130Asp)	SLTM (G130D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320594	NM_024755.4(SLTM):c.386T>C (p.Phe129Ser)	SLTM (F129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166177	NM_024755.4(SLTM):c.364G>A (p.Glu122Lys)	SLTM (E122K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613923	NM_024755.4(SLTM):c.259C>A (p.His87Asn)	SLTM (H87N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297963	NM_024755.4(SLTM):c.167T>C (p.Ile56Thr)	SLTM (I56T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320596	NM_024755.4(SLTM):c.37G>A (p.Ala13Thr)	LOC130057162, SLTM (A13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403905	NM_024755.4(SLTM):c.28G>C (p.Ala10Pro)	LOC130057162, SLTM (A10P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685517	GRCh37/hg19 15q21.3-22.2(chr15:54020810-62086530)x1	ADAM10, ALDH1A2 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +81 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980524	GRCh37/hg19 15q21.3-22.1(chr15:58997072-59218740)x3	SLTM, ADAM10 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685183	GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3	ADAM10, ALDH1A2 +76 more	Copy number gain	not provided	GPathogenic
Select item 564210	GRCh37/hg19 15q21.3-22.2(chr15:58441151-60270526)x3	ADAM10, AQP9 +11 more	Copy number gain	not provided	GUncertain significance
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 442636	GRCh37/hg19 15q21.3-22.2(chr15:58088503-62221756)x1	ADAM10, ALDH1A2 +17 more	Copy number loss	See cases	GPathogenic
Select item 395193	GRCh37/hg19 15q21.3-22.2(chr15:54713558-62769295)x1	ADAM10, ALDH1A2 +37 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

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Items: 73