SPINT1[gene] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169171	NM_003710.4(SPINT1):c.17C>G (p.Thr6Arg)	SPINT1, LOC130056873 (T6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169176	NM_003710.4(SPINT1):c.70C>T (p.Leu24Phe)	LOC130056873, SPINT1 (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299069	NM_003710.4(SPINT1):c.110C>T (p.Pro37Leu)	LOC130056873, SPINT1 (P37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365504	NM_003710.4(SPINT1):c.124C>T (p.Pro42Ser)	LOC130056873, SPINT1 (P42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169169	NM_003710.4(SPINT1):c.166G>T (p.Ala56Ser)	LOC130056873, SPINT1 (A56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282283	NM_003710.4(SPINT1):c.188T>C (p.Leu63Pro)	SPINT1 (L63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323277	NM_003710.4(SPINT1):c.199G>T (p.Ala67Ser)	SPINT1 (A67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347649	NM_003710.4(SPINT1):c.266G>A (p.Arg89His)	SPINT1 (R89H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364888	NM_003710.4(SPINT1):c.268G>A (p.Ala90Thr)	SPINT1 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267102	NM_003710.4(SPINT1):c.281C>T (p.Thr94Ile)	SPINT1 (T94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351075	NM_003710.4(SPINT1):c.307G>A (p.Glu103Lys)	SPINT1 (E103K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169172	NM_003710.4(SPINT1):c.361T>A (p.Cys121Ser)	SPINT1 (C121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169173	NM_003710.4(SPINT1):c.415A>G (p.Asn139Asp)	SPINT1 (N139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322257	NM_003710.4(SPINT1):c.437A>T (p.Tyr146Phe)	SPINT1 (Y146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322258	NM_003710.4(SPINT1):c.446A>G (p.Tyr149Cys)	SPINT1 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322259	NM_003710.4(SPINT1):c.453G>T (p.Gln151His)	SPINT1 (Q151H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375720	NM_003710.4(SPINT1):c.493G>T (p.Ala165Ser)	SPINT1 (A165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488217	NM_003710.4(SPINT1):c.494C>T (p.Ala165Val)	SPINT1 (A165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169175	NM_003710.4(SPINT1):c.569G>A (p.Arg190His)	SPINT1 (R190H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2594974	NM_003710.4(SPINT1):c.577C>T (p.Arg193Trp)	SPINT1 (R193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483539	NM_003710.4(SPINT1):c.587C>T (p.Thr196Met)	SPINT1 (T196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397857	NM_003710.4(SPINT1):c.683A>G (p.Asp228Gly)	SPINT1 (D228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322260	NM_003710.4(SPINT1):c.731A>G (p.Lys244Arg)	SPINT1 (K244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169177	NM_003710.4(SPINT1):c.731A>C (p.Lys244Thr)	SPINT1 (K244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468910	NM_003710.4(SPINT1):c.734A>G (p.Gln245Arg)	SPINT1 (Q245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356954	NM_003710.4(SPINT1):c.755C>T (p.Ala252Val)	SPINT1 (A252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249105	NM_003710.4(SPINT1):c.812C>T (p.Thr271Met)	SPINT1 (T271M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593639	NM_003710.4(SPINT1):c.835G>A (p.Val279Ile)	SPINT1 (V279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493795	NM_003710.4(SPINT1):c.905G>A (p.Gly302Asp)	SPINT1 (G302D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3169178	NM_003710.4(SPINT1):c.917C>T (p.Pro306Leu)	SPINT1 (P306L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169179	NM_003710.4(SPINT1):c.946T>C (p.Ser316Pro)	SPINT1 (S332P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787116	NM_003710.4(SPINT1):c.962C>T (p.Pro321Leu)	SPINT1 (P337L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3322256	NM_003710.4(SPINT1):c.1039G>A (p.Ala347Thr)	SPINT1 (A363T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488920	NM_003710.4(SPINT1):c.1084G>A (p.Glu362Lys)	SPINT1 (E320K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714591	NM_003710.4(SPINT1):c.1094G>A (p.Arg365His)	SPINT1 (R381H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2291657	NM_003710.4(SPINT1):c.1151G>T (p.Cys384Phe)	SPINT1 (C342F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555294	NM_003710.4(SPINT1):c.1189A>G (p.Ser397Gly)	SPINT1 (S355G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169163	NM_003710.4(SPINT1):c.1259A>G (p.Gln420Arg)	SPINT1 (Q378R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555366	NM_003710.4(SPINT1):c.1261T>A (p.Cys421Ser)	SPINT1 (C395S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555367	NM_003710.4(SPINT1):c.1267G>C (p.Glu423Gln)	SPINT1 (E381Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361053	NM_003710.4(SPINT1):c.1276C>T (p.Arg426Cys)	SPINT1 (R442C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226603	NM_003710.4(SPINT1):c.1312C>T (p.Arg438Trp)	SPINT1 (R438W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169165	NM_003710.4(SPINT1):c.1352C>T (p.Ala451Val)	SPINT1 (A425V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325672	NM_003710.4(SPINT1):c.1352C>A (p.Ala451Asp)	SPINT1 (A409D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266210	NM_003710.4(SPINT1):c.1354G>A (p.Val452Ile)	SPINT1 (V426I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 774335	NM_003710.4(SPINT1):c.1357G>A (p.Ala453Thr)	SPINT1 (A453T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169166	NM_003710.4(SPINT1):c.1387G>A (p.Val463Met)	SPINT1 (V421M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373960	NM_003710.4(SPINT1):c.1483G>A (p.Val495Ile)	SPINT1 (V511I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169167	NM_003710.4(SPINT1):c.1502C>T (p.Thr501Met)	SPINT1 (T517M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479269	NM_003710.4(SPINT1):c.1531C>T (p.Arg511Trp)	SPINT1 (R469W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169168	NM_003710.4(SPINT1):c.1532G>A (p.Arg511Gln)	SPINT1 (R469Q +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3243779	NC_000015.9:g.(?_38545387)_(42105565_?)dup	ANKRD63, BAHD1 +49 more	Duplication	Mosaic variegated aneuploidy syndrome 1	GUncertain significance
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 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	ZFYVE19, C15orf62 +9 more	Duplication	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	B2M, CTXN2 +472 more	Duplication	Bloom syndrome +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	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 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic

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Items: 61