ClinVar for Gene (Select 133383) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3062842	GRCh37/hg19 5q11.1-11.2(chr5:49430268-57925870)x1	ACTBL2, ANKRD55 +35 more	Copy number loss	not specified	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 487781	NM_153706.4(SETD9):c.788_796del (p.Ile263_Tyr265del)	SETD9	Deletion (inframe_deletion +1 more)	Ependymoma	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
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	LOC126807363, LOC126807364 +518 more	Copy number gain	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 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 30