ClinVar for MedGen (Select 811607) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689029	NM_005235.3(ERBB4):c.625A>T (p.Thr209Ser)	ERBB4 (T209S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19 +1 more	GConflicting classifications of pathogenicity
Select item 2500181	NM_005235.3(ERBB4):c.2487+8_2487+11del	ERBB4	Deletion (intron variant)	Amyotrophic lateral sclerosis type 19	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 2431554	NM_005235.3(ERBB4):c.2525G>A (p.Arg842Gln)	ERBB4 (R842Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 2195668	NM_005235.3(ERBB4):c.1027A>T (p.Met343Leu)	ERBB4 (M343L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19 +1 more	GUncertain significance
Select item 2177171	NM_005235.3(ERBB4):c.3878G>A (p.Gly1293Asp)	ERBB4 (G1293D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1983403	NM_005235.3(ERBB4):c.472G>A (p.Ala158Thr)	ERBB4 (A158T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1683524	NM_005235.3(ERBB4):c.3305T>C (p.Phe1102Ser)	ERBB4 (F1086S +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 1333938	NM_005235.3(ERBB4):c.508C>T (p.Pro170Ser)	ERBB4 (P170S)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 1333937	NM_005235.3(ERBB4):c.2443A>G (p.Ile815Val)	ERBB4 (I815V)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GUncertain significance
Select item 1265970	NM_005235.3(ERBB4):c.1947-28dup	ERBB4	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1210000	NM_005235.3(ERBB4):c.1490-15T>C	ERBB4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 19 +1 more	GBenign
Select item 1178058	NM_005235.3(ERBB4):c.2202+15A>G	ERBB4	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 19 +1 more	GBenign
Select item 1030895	NM_005235.3(ERBB4):c.2192C>T (p.Thr731Met)	ERBB4 (T731M)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19 +1 more	GUncertain significance
Select item 873194	NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)	ERBB4 (R1112C +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19 +1 more	GConflicting classifications of pathogenicity
Select item 801872	NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)	ERBB4 (I736N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19	GLikely pathogenic
Select item 770696	NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)	ERBB4 (H374Q)	Single nucleotide variant (missense variant)	ERBB4-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 769264	NM_005235.3(ERBB4):c.884-7del	ERBB4	Deletion (intron variant)	Amyotrophic lateral sclerosis type 19 +1 more	GBenign
Select item 64626	NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)	ERBB4 (R1275W +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 64625	NM_005235.3(ERBB4):c.2780G>A (p.Arg927Gln)	ERBB4 (R927Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 19 +1 more	GPathogenic

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Links from MedGen

Items: 21