SETD9[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LINC02057, LINC02101 +518 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 147801	GRCh38/hg38 5q11.2(chr5:56717311-57029532)x1	LOC105378979, LOC123493312 +22 more	Copy number loss	See cases	GUncertain significance
Select item 3317754	NM_153706.4(SETD9):c.22G>A (p.Gly8Ser)	LOC129993921, SETD9 (G8S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2560699	NM_153706.4(SETD9):c.110A>G (p.Tyr37Cys)	SETD9 (Y11C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614980	NM_153706.4(SETD9):c.121G>C (p.Glu41Gln)	SETD9 (E15Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389828	NM_153706.4(SETD9):c.164C>T (p.Thr55Ile)	SETD9 (T29I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655471	NM_153706.4(SETD9):c.243T>C (p.Ser81=)	SETD9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3160695	NM_153706.4(SETD9):c.298C>T (p.Leu100Phe)	SETD9 (L74F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160696	NM_153706.4(SETD9):c.571A>G (p.Ile191Val)	SETD9 (I39V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160697	NM_153706.4(SETD9):c.616G>A (p.Gly206Ser)	SETD9 (G206S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160698	NM_153706.4(SETD9):c.704A>G (p.Asn235Ser)	SETD9 (N235S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465739	NM_153706.4(SETD9):c.739G>C (p.Asp247His)	SETD9 (D221H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 487781	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)	SETD9	Deletion (inframe_deletion +1 more)	Ependymoma	GUncertain significance
Select item 2618035	NM_153706.4(SETD9):c.896G>T (p.Ser299Ile)	SETD9 (S147I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614825	NM_001297599.2(MIER3):c.1616A>G (p.His539Arg)	MIER3, SETD9 (H539R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294859	NM_001297599.2(MIER3):c.1564G>A (p.Ala522Thr)	MIER3, SETD9 (A521T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294860	NM_001297599.2(MIER3):c.1521T>A (p.Asn507Lys)	MIER3, SETD9 (N506K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362613	NM_001297599.2(MIER3):c.1410G>A (p.Met470Ile)	MIER3, SETD9 (M469I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299099	NM_001297599.2(MIER3):c.1400C>G (p.Pro467Arg)	MIER3, SETD9 (P472R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554707	NM_001297599.2(MIER3):c.1353T>G (p.Asp451Glu)	MIER3, SETD9 (D451E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126457	NM_001297599.2(MIER3):c.1283G>A (p.Arg428His)	MIER3, SETD9 (R433H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324841	NM_001297599.2(MIER3):c.1231A>T (p.Thr411Ser)	MIER3, SETD9 (T410S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597983	NM_001297599.2(MIER3):c.1225G>A (p.Asp409Asn)	MIER3, SETD9 (D408N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555499	NM_001297599.2(MIER3):c.1058A>G (p.Tyr353Cys)	MIER3, SETD9 (Y353C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
Select item 979676	GRCh37/hg19 5q11.2(chr5:55867380-56217595)x3	SETD9, MIER3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394104	GRCh37/hg19 5q11.2(chr5:56107595-56694985)x1	GPBP1, MAP3K1 +2 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 33