"GeneDx"[submitter] AND "SUPT16H"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 3343626	NM_007192.4(SUPT16H):c.3019G>A (p.Glu1007Lys)	LOC126861887, SUPT16H (E1007K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303685	NM_007192.4(SUPT16H):c.2958del (p.Ser986fs)	SUPT16H (S986fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1707996	NM_007192.4(SUPT16H):c.2849C>T (p.Pro950Leu)	SUPT16H (P950L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676404	NM_007192.4(SUPT16H):c.2791-2A>C	SUPT16H	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2444812	NM_007192.4(SUPT16H):c.2561A>G (p.Asn854Ser)	SUPT16H (N854S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800887	NM_007192.4(SUPT16H):c.2245A>G (p.Thr749Ala)	SUPT16H (T749A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343836	NM_007192.4(SUPT16H):c.2218T>C (p.Phe740Leu)	SUPT16H (F740L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306719	NM_007192.4(SUPT16H):c.2206A>G (p.Thr736Ala)	SUPT16H (T736A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700349	NM_007192.4(SUPT16H):c.2078G>A (p.Arg693Gln)	SUPT16H (R693Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2503157	NM_007192.4(SUPT16H):c.2065T>G (p.Phe689Val)	SUPT16H (F689V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710559	NM_007192.4(SUPT16H):c.2002C>T (p.Arg668Cys)	SUPT16H (R668C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371300	NM_007192.4(SUPT16H):c.1910C>A (p.Ala637Asp)	SUPT16H (A637D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502076	NM_007192.4(SUPT16H):c.1871T>A (p.Ile624Asn)	SUPT16H (I624N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710860	NM_007192.4(SUPT16H):c.1868G>A (p.Arg623Gln)	SUPT16H (R623Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504933	NM_007192.4(SUPT16H):c.1859_1861dup (p.Asn620_Ala621insAsp)	SUPT16H	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1708725	NM_007192.4(SUPT16H):c.1835C>T (p.Thr612Ile)	SUPT16H (T612I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367715	NM_007192.4(SUPT16H):c.1801C>T (p.Arg601Ter)	SUPT16H (R601*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3252922	NM_007192.4(SUPT16H):c.1774G>A (p.Ala592Thr)	SUPT16H (A592T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430564	NM_007192.4(SUPT16H):c.1705C>T (p.Arg569Ter)	SUPT16H (R569*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3365142	NM_007192.4(SUPT16H):c.1430A>G (p.His477Arg)	SUPT16H (H477R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370650	NM_007192.4(SUPT16H):c.1420C>T (p.Arg474Ter)	SUPT16H (R474*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1314807	NM_007192.4(SUPT16H):c.1345G>A (p.Asp449Asn)	SUPT16H (D449N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363956	NM_007192.4(SUPT16H):c.1273_1274delinsTA (p.Val425Ter)	SUPT16H (V425*)	Indel (nonsense)	not provided	GUncertain significance
Select item 3365734	NM_007192.4(SUPT16H):c.1188G>C (p.Glu396Asp)	SUPT16H (E396D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363949	NM_007192.4(SUPT16H):c.1156C>A (p.Leu386Met)	SUPT16H (L386M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505913	NM_007192.4(SUPT16H):c.1056G>A (p.Met352Ile)	SUPT16H (M352I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706772	NM_007192.4(SUPT16H):c.989T>C (p.Met330Thr)	SUPT16H (M330T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342335	NM_007192.4(SUPT16H):c.809C>G (p.Ala270Gly)	SUPT16H (A270G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309018	NM_007192.4(SUPT16H):c.793C>T (p.His265Tyr)	SUPT16H (H265Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804602	NM_007192.4(SUPT16H):c.625G>T (p.Asp209Tyr)	SUPT16H (D209Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504853	NM_007192.4(SUPT16H):c.602G>A (p.Arg201Lys)	SUPT16H (R201K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712172	NM_007192.4(SUPT16H):c.554A>C (p.Lys185Thr)	SUPT16H (K185T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697150	NM_007192.4(SUPT16H):c.551A>G (p.Lys184Arg)	SUPT16H (K184R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502525	NM_007192.4(SUPT16H):c.277G>A (p.Gly93Ser)	SUPT16H (G93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768637	NM_007192.4(SUPT16H):c.132T>C (p.Ile44=)	SUPT16H	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3373124	NM_007192.4(SUPT16H):c.10A>G (p.Thr4Ala)	SUPT16H (T4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253921	GRCh37/hg19 14q11.2(chr14:21520503-21878421)x3	CHD8, ARHGEF40 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 3360187	NM_007192.4(SUPT16H):c.3141G>T (p.Lys1047Asn)	SUPT16H (K1047N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359561	NM_007192.4(SUPT16H):c.1924_1928delinsGAGGT (p.Lys642_Glu643delinsGluVal)	SUPT16H	Indel (missense variant)	not provided	GUncertain significance

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Items: 46