ClinVar for Gene (Select 6830) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323656	NM_003170.5(SUPT6H):c.1525G>C (p.Glu509Gln)	SUPT6H (E509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323655	NM_003170.5(SUPT6H):c.1444G>A (p.Ala482Thr)	SUPT6H (A482T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323654	NM_003170.5(SUPT6H):c.118G>A (p.Glu40Lys)	SUPT6H (E40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172190	NM_003170.5(SUPT6H):c.5119G>A (p.Glu1707Lys)	SUPT6H (E1707K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172189	NM_003170.5(SUPT6H):c.4240C>T (p.Arg1414Cys)	SUPT6H (R1414C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172188	NM_003170.5(SUPT6H):c.3968C>G (p.Thr1323Ser)	SUPT6H (T1323S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172187	NM_003170.5(SUPT6H):c.388G>A (p.Asp130Asn)	SUPT6H (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172186	NM_003170.5(SUPT6H):c.381C>G (p.Asp127Glu)	SUPT6H (D127E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172185	NM_003170.5(SUPT6H):c.3701A>G (p.Asn1234Ser)	SUPT6H (N1234S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172184	NM_003170.5(SUPT6H):c.2945G>A (p.Ser982Asn)	SUPT6H (S982N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172183	NM_003170.5(SUPT6H):c.2858A>T (p.Glu953Val)	SUPT6H (E953V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172182	NM_003170.5(SUPT6H):c.2857G>A (p.Glu953Lys)	SUPT6H (E953K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172181	NM_003170.5(SUPT6H):c.2792G>A (p.Cys931Tyr)	SUPT6H (C931Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172180	NM_003170.5(SUPT6H):c.278A>T (p.Asp93Val)	SUPT6H (D93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172179	NM_003170.5(SUPT6H):c.2756G>A (p.Arg919His)	SUPT6H (R919H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172178	NM_003170.5(SUPT6H):c.250C>T (p.His84Tyr)	SUPT6H (H84Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172177	NM_003170.5(SUPT6H):c.2453G>A (p.Arg818Gln)	SUPT6H (R818Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172176	NM_003170.5(SUPT6H):c.2347G>A (p.Gly783Ser)	SUPT6H (G783S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172175	NM_003170.5(SUPT6H):c.2249A>G (p.Tyr750Cys)	SUPT6H (Y750C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172174	NM_003170.5(SUPT6H):c.2120G>A (p.Arg707Gln)	SUPT6H (R707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172172	NM_003170.5(SUPT6H):c.1991T>A (p.Leu664His)	SUPT6H (L664H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172171	NM_003170.5(SUPT6H):c.1798C>T (p.Pro600Ser)	SUPT6H (P600S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172170	NM_003170.5(SUPT6H):c.1538C>T (p.Pro513Leu)	SUPT6H (P513L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172169	NM_003170.5(SUPT6H):c.1193A>T (p.Gln398Leu)	SUPT6H (Q398L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172168	NM_003170.5(SUPT6H):c.1191G>T (p.Trp397Cys)	SUPT6H (W397C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172167	NM_003170.5(SUPT6H):c.1172A>G (p.Asn391Ser)	SUPT6H (N391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172166	NM_003170.5(SUPT6H):c.1130C>T (p.Ala377Val)	SUPT6H (A377V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172165	NM_003170.5(SUPT6H):c.1021C>G (p.Arg341Gly)	SUPT6H (R341G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647600	NM_003170.5(SUPT6H):c.5019C>T (p.Asp1673=)	SUPT6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647599	NM_003170.5(SUPT6H):c.3513C>G (p.Val1171=)	SUPT6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647598	NM_003170.5(SUPT6H):c.1629C>T (p.Pro543=)	SUPT6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647597	NM_003170.5(SUPT6H):c.546C>T (p.Asp182=)	SUPT6H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619150	NM_003170.5(SUPT6H):c.3520A>G (p.Ile1174Val)	SUPT6H (I1174V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610915	NM_003170.5(SUPT6H):c.358C>T (p.Arg120Cys)	SUPT6H (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601995	NM_003170.5(SUPT6H):c.3148A>G (p.Ile1050Val)	SUPT6H (I1050V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593217	NM_003170.5(SUPT6H):c.2582T>C (p.Ile861Thr)	SUPT6H (I861T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588683	NM_003170.5(SUPT6H):c.3860T>C (p.Met1287Thr)	SUPT6H (M1287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580348	GRCh37/hg19 17q11.1-11.2(chr17:25263507-27829791)x3	FAM222B, FLOT2 +41 more	Copy number gain	Developmental delay with or without intellectual impairment or behavioral abnormalities	GUncertain significance
Select item 2545892	NM_003170.5(SUPT6H):c.2894G>A (p.Arg965Gln)	SUPT6H (R965Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542812	NM_003170.5(SUPT6H):c.3569A>G (p.Asn1190Ser)	SUPT6H (N1190S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526097	NM_003170.5(SUPT6H):c.85A>G (p.Lys29Glu)	SUPT6H (K29E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494200	NM_003170.5(SUPT6H):c.4582A>T (p.Ser1528Cys)	SUPT6H (S1528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489478	NM_003170.5(SUPT6H):c.123G>C (p.Glu41Asp)	SUPT6H (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484539	NM_003170.5(SUPT6H):c.1807C>T (p.Arg603Trp)	SUPT6H (R603W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483401	NM_003170.5(SUPT6H):c.505C>T (p.Pro169Ser)	SUPT6H (P169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471207	NM_003170.5(SUPT6H):c.2924G>A (p.Arg975His)	SUPT6H (R975H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456176	NM_003170.5(SUPT6H):c.5069G>A (p.Arg1690Gln)	SUPT6H (R1690Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2425303	NC_000017.10:g.(?_26684694)_(27581367_?)dup	ALDOC, BLTP2 +29 more	Duplication	not provided	GUncertain significance
Select item 2407161	NM_003170.5(SUPT6H):c.1976C>A (p.Ala659Asp)	SUPT6H (A659D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406580	NM_003170.5(SUPT6H):c.3454A>G (p.Met1152Val)	SUPT6H (M1152V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401476	NM_003170.5(SUPT6H):c.4789G>A (p.Gly1597Ser)	SUPT6H (G1597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398491	NM_003170.5(SUPT6H):c.1883T>C (p.Val628Ala)	SUPT6H (V628A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396946	NM_003170.5(SUPT6H):c.4244A>G (p.Tyr1415Cys)	SUPT6H (Y1415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396207	NM_003170.5(SUPT6H):c.2835G>T (p.Leu945Phe)	SUPT6H (L945F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393852	NM_003170.5(SUPT6H):c.3958C>G (p.Gln1320Glu)	SUPT6H (Q1320E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391288	NM_003170.5(SUPT6H):c.2900A>G (p.Asn967Ser)	SUPT6H (N967S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377347	NM_003170.5(SUPT6H):c.5098C>T (p.Pro1700Ser)	SUPT6H (P1700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376139	NM_003170.5(SUPT6H):c.1369A>G (p.Met457Val)	SUPT6H (M457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365595	NM_003170.5(SUPT6H):c.962A>G (p.Tyr321Cys)	SUPT6H (Y321C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358501	NM_003170.5(SUPT6H):c.1066A>G (p.Ile356Val)	SUPT6H (I356V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342796	NM_003170.5(SUPT6H):c.785G>A (p.Arg262His)	SUPT6H (R262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305004	NM_003170.5(SUPT6H):c.5167G>A (p.Glu1723Lys)	SUPT6H (E1723K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276754	NM_003170.5(SUPT6H):c.2311A>G (p.Met771Val)	SUPT6H (M771V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247856	NM_003170.5(SUPT6H):c.1765C>T (p.Arg589Cys)	SUPT6H (R589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239244	NM_003170.5(SUPT6H):c.2408G>C (p.Gly803Ala)	SUPT6H (G803A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232284	NM_003170.5(SUPT6H):c.1552G>T (p.Ala518Ser)	SUPT6H (A518S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219625	NM_003170.5(SUPT6H):c.2240G>A (p.Arg747Gln)	SUPT6H (R747Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208492	NM_003170.5(SUPT6H):c.836G>A (p.Ser279Asn)	SUPT6H (S279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 668410	NM_003170.5(SUPT6H):c.4995-10C>G	SUPT6H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 147274	GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3	ALDOC, BLTP2 +88 more	Copy number gain	See cases	GBenign

ClinVar

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Links from Gene

Items: 78