HOMER1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 149681	GRCh38/hg38 5q14.1(chr5:78804361-79620179)x3	ARSB, BHMT +21 more	Copy number gain	See cases	GUncertain significance
Select item 2251010	NM_004272.5(HOMER1):c.1004G>T (p.Gly335Val)	HOMER1 (G205V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203930	NM_004272.5(HOMER1):c.967C>T (p.Arg323Cys)	HOMER1 (R193C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493930	NM_004272.5(HOMER1):c.835G>A (p.Glu279Lys)	HOMER1 (E279K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749710	NM_004272.5(HOMER1):c.777A>C (p.Thr259=)	HOMER1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731596	NM_004272.5(HOMER1):c.684+9A>G	HOMER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 768008	NM_004272.5(HOMER1):c.609G>A (p.Glu203=)	HOMER1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 715802	NM_004272.5(HOMER1):c.511T>C (p.Leu171=)	HOMER1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2489009	NM_004272.5(HOMER1):c.428A>C (p.Glu143Ala)	HOMER1 (E143A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604965	NM_004272.5(HOMER1):c.376A>G (p.Thr126Ala)	HOMER1 (T126A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619046	NM_004272.5(HOMER1):c.371C>T (p.Thr124Ile)	HOMER1 (T124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737362	NM_004272.5(HOMER1):c.294+10A>G	HOMER1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2221842	NM_004272.5(HOMER1):c.202A>G (p.Thr68Ala)	HOMER1 (T68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684421	GRCh37/hg19 5q14.1(chr5:78798621-79189918)x3	CMYA5, HOMER1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1809020	GRCh37/hg19 5q14.1(chr5:77746948-79089197)x1	ARSB, BHMT +8 more	Copy number loss	not provided	GUncertain significance
Select item 1527173	GRCh37/hg19 5q14.1(chr5:78429443-78857772)	HOMER1, JMY	Copy number gain	not specified	GUncertain significance
Select item 814699	GRCh37/hg19 5q14.1(chr5:78401788-78708407)x3	JMY, HOMER1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814697	GRCh37/hg19 5q14.1(chr5:78366704-78689771)x3	JMY, BHMT +2 more	Copy number gain	not provided	GUncertain significance
Select item 814696	GRCh37/hg19 5q14.1(chr5:78094810-78936391)x3	DMGDH, HOMER1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 688924	GRCh37/hg19 5q14.1(chr5:78318239-78791047)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687219	GRCh37/hg19 5q14.1(chr5:78700197-79294390)x3	CMYA5, HOMER1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 686675	GRCh37/hg19 5q14.1(chr5:78229182-78844914)x3	ARSB, BHMT +4 more	Copy number gain	not provided	GUncertain significance
Select item 686449	GRCh37/hg19 5q14.1(chr5:78324437-78693659)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686371	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 686174	GRCh37/hg19 5q14.1(chr5:78323433-78693915)x3	BHMT, BHMT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685870	GRCh37/hg19 5q14.1(chr5:78687874-79208782)x3	CMYA5, HOMER1 +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

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Items: 32