SP100[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 144832	GRCh38/hg38 2q37.1(chr2:230385715-230513525)x3	LOC129935759, LOC129935760 +7 more	Copy number gain	See cases	GBenign
Select item 2407046	NM_001080391.2(SP100):c.14G>T (p.Gly5Val)	LOC129935762, SP100 (G5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167847	NM_001080391.2(SP100):c.162C>A (p.Phe54Leu)	SP100 (F54L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313439	NM_001080391.2(SP100):c.209A>C (p.Lys70Thr)	SP100 (K35T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167854	NM_001080391.2(SP100):c.284C>G (p.Ser95Cys)	SP100 (S70C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167855	NM_001080391.2(SP100):c.382G>A (p.Asp128Asn)	SP100 (D103N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265359	NM_001080391.2(SP100):c.424A>G (p.Lys142Glu)	SP100 (K107E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167856	NM_001080391.2(SP100):c.476A>G (p.Glu159Gly)	SP100 (E159G +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2529952	NM_001080391.2(SP100):c.490G>A (p.Glu164Lys)	SP100 (E129K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480931	NM_001080391.2(SP100):c.527C>T (p.Thr176Ile)	SP100 (T176I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167857	NM_001080391.2(SP100):c.545G>A (p.Arg182Gln)	SP100 (R182Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337104	NM_001080391.2(SP100):c.590C>A (p.Thr197Lys)	SP100 (T172K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297230	NM_001080391.2(SP100):c.596C>T (p.Pro199Leu)	SP100 (P164L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306256	NM_001080391.2(SP100):c.744C>G (p.Cys248Trp)	SP100 (C213W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780026	NM_001080391.2(SP100):c.875G>A (p.Arg292Gln)	SP100 (R257Q +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3167858	NM_001080391.2(SP100):c.895G>A (p.Glu299Lys)	SP100 (E274K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321678	NM_001080391.2(SP100):c.901C>A (p.Pro301Thr)	SP100 (P301T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167860	NM_001080391.2(SP100):c.937G>C (p.Ala313Pro)	SP100 (A288P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565119	NM_001080391.2(SP100):c.938C>A (p.Ala313Glu)	SP100 (A278E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167861	NM_001080391.2(SP100):c.998G>A (p.Gly333Glu)	SP100 (G308E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 771847	NM_001080391.2(SP100):c.1008C>T (p.Asp336=)	SP100	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2616399	NM_001080391.2(SP100):c.1087A>G (p.Asn363Asp)	SP100 (N338D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376277	NM_001080391.2(SP100):c.1124G>A (p.Arg375Gln)	SP100 (R340Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321679	NM_001080391.2(SP100):c.1190A>G (p.Lys397Arg)	SP100 (K362R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321677	NM_001080391.2(SP100):c.1208A>G (p.Asp403Gly)	SP100 (D368G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167840	NM_001080391.2(SP100):c.1241C>T (p.Ala414Val)	SP100 (A379V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167841	NM_001080391.2(SP100):c.1246G>A (p.Ala416Thr)	SP100 (A416T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167842	NM_001080391.2(SP100):c.1346G>T (p.Arg449Leu)	SP100 (R414L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622613	NM_001080391.2(SP100):c.1388A>C (p.Glu463Ala)	SP100 (E428A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167843	NM_001080391.2(SP100):c.1390C>A (p.Leu464Ile)	SP100 (L429I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167844	NM_001080391.2(SP100):c.1475T>A (p.Met492Lys)	SP100 (M492K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287022	NM_001080391.2(SP100):c.1545G>C (p.Met515Ile)	SP100 (M515I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167845	NM_001080391.2(SP100):c.1552A>G (p.Met518Val)	SP100 (M518V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277231	NM_001080391.2(SP100):c.1625A>G (p.Lys542Arg)	SP100 (K542R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208080	NM_001080391.2(SP100):c.1627G>A (p.Val543Ile)	SP100 (V543I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512526	NM_001080391.2(SP100):c.1892A>G (p.Gln631Arg)	SP100 (Q631R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167848	NM_001080391.2(SP100):c.1948G>A (p.Gly650Arg)	SP100 (G650R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381646	NM_001080391.2(SP100):c.1979G>A (p.Arg660His)	SP100 (R660H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466987	NM_001080391.2(SP100):c.1984G>A (p.Gly662Ser)	SP100 (G662S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250649	NM_001080391.2(SP100):c.2087A>T (p.Asp696Val)	SP100 (D696V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321680	NM_001080391.2(SP100):c.2107A>G (p.Asn703Asp)	SP100 (N703D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522549	NM_001080391.2(SP100):c.2116G>A (p.Glu706Lys)	SP100 (E706K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412128	NM_001080391.2(SP100):c.2162C>G (p.Pro721Arg)	SP100 (P721R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321681	NM_001080391.2(SP100):c.2174A>T (p.His725Leu)	SP100 (H725L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490986	NM_001080391.2(SP100):c.2227A>G (p.Ile743Val)	SP100 (I743V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981826	NM_001080391.2(SP100):c.2282dup (p.His761fs)	SP100 (H761fs)	Duplication (frameshift variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3167849	NM_001080391.2(SP100):c.2396C>T (p.Pro799Leu)	SP100 (P799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478180	NM_001080391.2(SP100):c.2396C>A (p.Pro799Gln)	SP100 (P799Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167850	NM_001080391.2(SP100):c.2471A>C (p.Glu824Ala)	SP100 (E824A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167851	NM_001080391.2(SP100):c.2478G>A (p.Met826Ile)	SP100 (M826I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535375	NM_001080391.2(SP100):c.2486G>A (p.Arg829Gln)	SP100 (R829Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525462	NM_001080391.2(SP100):c.2576A>T (p.Gln859Leu)	SP100 (Q859L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167852	NM_001080391.2(SP100):c.2581C>G (p.Gln861Glu)	SP100 (Q861E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589685	NM_001080391.2(SP100):c.2626G>A (p.Glu876Lys)	SP100 (E876K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167853	NM_001080391.2(SP100):c.2647A>C (p.Met883Leu)	SP100 (M883L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526961	GRCh37/hg19 2q36.3-37.1(chr2:229968217-231883182)	CAB39, DNER +11 more	Copy number loss	not specified	GPathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526955	GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)	ACSL3, AGFG1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 446435	GRCh37/hg19 2q36.3-37.1(chr2:230411764-232019784)x1	C2orf72, CAB39 +13 more	Copy number loss	not specified	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441824	GRCh37/hg19 2q36.3-37.1(chr2:230491213-231404389)x1	DNER, FBXO36 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 86