Related gene-specific medical variations for Gene (Select 2066) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062569	GRCh37/hg19 2q34(chr2:211708028-212975940)x3	ERBB4	Copy number gain	not specified	GUncertain significance
Select item 2689029	NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)	ERBB4 (T209S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2684953	GRCh37/hg19 2q34(chr2:212633377-213434225)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 2441281	NM_005235.3(ERBB4):c.1289+1G>C	ERBB4	Single nucleotide variant (splice donor variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 2441280	NM_005235.3(ERBB4):c.1885A>G (p.Thr629Ala)	ERBB4 (T629A)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 1807601	GRCh37/hg19 2q34(chr2:212597211-213804569)x3	ERBB4	Copy number gain	not provided	GUncertain significance
Select item 1801449	NM_005235.3(ERBB4):c.82+91828_82+91864del	ERBB4	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1801438	NM_005235.3(ERBB4):c.421+36999_421+40917del	ERBB4	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1701682	NM_005235.3(ERBB4):c.1554C>G (p.Asp518Glu)	ERBB4 (D518E)	Single nucleotide variant (missense variant)	ERBB4-associated epilepsy syndrome	GUncertain significance
Select item 1342338	NM_005235.3(ERBB4):c.2719+4A>T	ERBB4	Single nucleotide variant (intron variant)	ERBB4-related Non-syndromic intellectual disability or epilepsy	GUncertain significance
Select item 1340248	GRCh37/hg19 2q34(chr2:213359350-213473331)x1	ERBB4	Copy number loss	not provided	GLikely benign
Select item 988606	GRCh37/hg19 2q34(chr2:213002887-213026083)x1	ERBB4	Copy number loss	See cases	GUncertain significance
Select item 816558	GRCh37/hg19 2q34(chr2:213107280-213328411)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 814362	GRCh37/hg19 2q34(chr2:212184096-212747758)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 687930	GRCh37/hg19 2q34(chr2:212948125-213071114)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 686920	GRCh37/hg19 2q34(chr2:212426791-212654480)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 562554	GRCh37/hg19 2q34(chr2:212818448-213065294)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 562547	GRCh37/hg19 2q34(chr2:212678164-212895911)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 562509	GRCh37/hg19 2q34(chr2:213092401-213187551)x1	ERBB4	Copy number loss	not provided	GUncertain significance
Select item 442223	GRCh37/hg19 2q34(chr2:212461116-213344955)x1	ERBB4	Copy number loss	See cases	GUncertain significance
Select item 376172	NM_005235.3(ERBB4):c.1177C>T (p.Arg393Trp)	ERBB4 (R393W)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376171	NM_005235.3(ERBB4):c.1624G>A (p.Glu542Lys)	ERBB4 (E542K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 376170	NM_005235.3(ERBB4):c.2614G>A (p.Glu872Lys)	ERBB4 (E872K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 156821	NM_005235.2(ERBB4):c.83-200864_83-199104del	ERBB4	Deletion	Normal pregnancy	Gnot provided
Select item 156819	NM_005235.2(ERBB4):c.83-201761_83-197406del	ERBB4	Deletion	Normal pregnancy +1 more	Gnot provided
Select item 156818	NM_005235.2(ERBB4):c.83-200865_83-194068del	ERBB4	Deletion	Gestational diabetes mellitus uncontrolled	Gnot provided
Select item 156816	NM_005235.2(ERBB4):c.83-202639_83-194067del	ERBB4	Deletion	Normal pregnancy +1 more	Gnot provided
Select item 156815	Single allele	ERBB4	Deletion	Small for gestational age	Gnot provided
Select item 151426	GRCh38/hg38 2q34(chr2:211495527-211547980)x1	ERBB4	Copy number loss	See cases	GBenign
Select item 91898	NM_005235.3(ERBB4):c.1354G>A (p.Glu452Lys)	ERBB4 (E452K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 74427	NM_005235.3(ERBB4):c.949G>A (p.Glu317Lys)	ERBB4 (E317K)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic
Select item 74426	NM_005235.3(ERBB4):c.1630C>T (p.Arg544Trp)	ERBB4 (R544W)	Single nucleotide variant (missense variant)	Melanoma	GLikely pathogenic

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Links from Gene

Items: 32