11469[HGNC] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2352690	NM_001111020.3(SUPT5H):c.69G>C (p.Glu23Asp)	SUPT5H (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782330	NM_001111020.3(SUPT5H):c.114AGA[2] (p.Glu41del)	SUPT5H (E41del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2270990	NM_001111020.3(SUPT5H):c.211C>T (p.Arg71Cys)	SUPT5H (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538294	NM_001111020.3(SUPT5H):c.356G>A (p.Arg119His)	SUPT5H (R115H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553159	NM_001111020.3(SUPT5H):c.557T>C (p.Ile186Thr)	SUPT5H (I186T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593312	NM_001111020.3(SUPT5H):c.592C>T (p.Arg198Cys)	SUPT5H (R194C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313132	NM_001111020.3(SUPT5H):c.613T>C (p.Phe205Leu)	SUPT5H (F201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172164	NM_001111020.3(SUPT5H):c.623C>T (p.Thr208Met)	SUPT5H (T204M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619891	NM_001111020.3(SUPT5H):c.679G>A (p.Val227Met)	SUPT5H (V227M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1256822	NM_001111020.3(SUPT5H):c.720G>A (p.Glu240=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2649835	NM_001111020.3(SUPT5H):c.876+7G>A	SUPT5H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2312959	NM_001111020.3(SUPT5H):c.941A>T (p.Asp314Val)	SUPT5H (D314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727605	NM_001111020.3(SUPT5H):c.985A>C (p.Arg329=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3323650	NM_001111020.3(SUPT5H):c.1000C>T (p.Arg334Trp)	SUPT5H (R330W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649836	NM_001111020.3(SUPT5H):c.1044G>A (p.Leu348=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477794	NM_001111020.3(SUPT5H):c.1148C>T (p.Thr383Met)	SUPT5H (T379M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172153	NM_001111020.3(SUPT5H):c.1247G>A (p.Arg416Gln)	SUPT5H (R416Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172154	NM_001111020.3(SUPT5H):c.1264C>T (p.Pro422Ser)	SUPT5H (P422S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234391	NM_001111020.3(SUPT5H):c.1265C>T (p.Pro422Leu)	SUPT5H (P418L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027292	NM_001111020.3(SUPT5H):c.1317G>A (p.Lys439=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3323652	NM_001111020.3(SUPT5H):c.1318A>G (p.Ile440Val)	SUPT5H (I440V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263856	NM_001111020.3(SUPT5H):c.1394C>G (p.Ala465Gly)	SUPT5H (A461G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338615	NM_001111020.3(SUPT5H):c.1453T>C (p.Phe485Leu)	SUPT5H (F485L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323653	NM_001111020.3(SUPT5H):c.1651G>A (p.Val551Met)	SUPT5H (V547M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172155	NM_001111020.3(SUPT5H):c.1693G>A (p.Gly565Arg)	SUPT5H (G561R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172156	NM_001111020.3(SUPT5H):c.1804G>A (p.Val602Ile)	SUPT5H (V598I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172157	NM_001111020.3(SUPT5H):c.2047G>A (p.Gly683Ser)	SUPT5H (G679S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609966	NM_001111020.3(SUPT5H):c.2074G>T (p.Gly692Cys)	SUPT5H (G688C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263113	NM_001111020.3(SUPT5H):c.2092C>T (p.Arg698Trp)	SUPT5H (R698W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778832	NM_001111020.3(SUPT5H):c.2156-10C>T	SUPT5H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3323651	NM_001111020.3(SUPT5H):c.2255C>T (p.Thr752Met)	SUPT5H (T752M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1280171	NM_001111020.3(SUPT5H):c.2259-15T>A	SUPT5H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2250558	NM_001111020.3(SUPT5H):c.2270G>A (p.Arg757His)	SUPT5H (R753H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277835	NM_001111020.3(SUPT5H):c.2278G>T (p.Gly760Cys)	SUPT5H (G760C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172158	NM_001111020.3(SUPT5H):c.2329A>G (p.Met777Val)	SUPT5H (M777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727033	NM_001111020.3(SUPT5H):c.2361C>T (p.Tyr787=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494365	NM_001111020.3(SUPT5H):c.2370G>C (p.Gln790His)	SUPT5H (Q786H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330318	NM_001111020.3(SUPT5H):c.2375C>T (p.Pro792Leu)	SUPT5H (P788L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470543	NM_001111020.3(SUPT5H):c.2483C>T (p.Thr828Met)	SUPT5H (T828M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172160	NM_001111020.3(SUPT5H):c.2605C>G (p.Gln869Glu)	SUPT5H (Q865E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298733	NM_001111020.3(SUPT5H):c.2650A>G (p.Met884Val)	SUPT5H (M880V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781451	NM_001111020.3(SUPT5H):c.2821-9C>A	SUPT5H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3172161	NM_001111020.3(SUPT5H):c.2870C>T (p.Ala957Val)	SUPT5H (A957V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649837	NM_001111020.3(SUPT5H):c.2901G>C (p.Thr967=)	SUPT5H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025330	NM_001111020.3(SUPT5H):c.3121-8A>C	SUPT5H	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3172162	NM_001111020.3(SUPT5H):c.3155C>T (p.Thr1052Met)	SUPT5H (T1048M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	ACP7, ACTN4 +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	TWIST1-related craniosynostosis +3 more	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221542	GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3	MED29, PAF1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 3359219	NM_001111020.3(SUPT5H):c.524+1G>A	SUPT5H	Single nucleotide variant (splice donor variant)	SUPT5H-related condition	GUncertain significance

ClinVar

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Items: 58