ERBB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 1230173	NM_005235.3(ERBB4):c.*3388C>T	ERBB4	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2873593	NM_005235.3(ERBB4):c.3926A>G (p.Ter1309=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1553091	NM_005235.3(ERBB4):c.3909C>T (p.His1303=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2165306	NM_005235.3(ERBB4):c.3891G>A (p.Pro1297=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896697	NM_005235.3(ERBB4):c.3890C>T (p.Pro1297Leu)	ERBB4 (P1281L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 750970	NM_005235.3(ERBB4):c.3888G>T (p.Leu1296=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1980190	NM_005235.3(ERBB4):c.3861G>T (p.Glu1287Asp)	ERBB4 (E1271D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1410923	NM_005235.3(ERBB4):c.3859G>A (p.Glu1287Lys)	ERBB4 (E1271K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721003	NM_005235.3(ERBB4):c.3838G>C (p.Glu1280Gln)	ERBB4 (E1280Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463600	NM_005235.3(ERBB4):c.3824G>A (p.Arg1275Gln)	ERBB4 (R1275Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64626	NM_005235.3(ERBB4):c.3823C>T (p.Arg1275Trp)	ERBB4 (R1275W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887977	NM_005235.3(ERBB4):c.3821T>G (p.Ile1274Ser)	ERBB4 (I1258S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1657636	NM_005235.3(ERBB4):c.3819G>A (p.Arg1273=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 976654	NM_005235.3(ERBB4):c.3814G>A (p.Gly1272Arg)	ERBB4 (G1256R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GLikely pathogenic
Select item 2483558	NM_005235.3(ERBB4):c.3779A>G (p.Gln1260Arg)	ERBB4 (Q1260R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1536955	NM_005235.3(ERBB4):c.3774C>T (p.Tyr1258=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748918	NM_005235.3(ERBB4):c.3765C>T (p.His1255=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161457	NM_005235.3(ERBB4):c.3746C>T (p.Pro1249Leu)	ERBB4 (P1233L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2999193	NM_005235.3(ERBB4):c.3735C>T (p.His1245=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973456	NM_005235.3(ERBB4):c.3732C>T (p.Asn1244=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012792	NM_005235.3(ERBB4):c.3726C>T (p.Tyr1242=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3276196	NM_005235.3(ERBB4):c.3718C>G (p.Pro1240Ala)	ERBB4 (P1240A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3344519	NM_005235.3(ERBB4):c.3710T>A (p.Phe1237Tyr)	ERBB4 (F1221Y +1 more)	Single nucleotide variant (missense variant)	ERBB4-related disorder	GUncertain significance
Select item 742282	NM_005235.3(ERBB4):c.3708G>A (p.Ala1236=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148211	NM_005235.3(ERBB4):c.3707C>T (p.Ala1236Val)	ERBB4 (A1220V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870997	NM_005235.3(ERBB4):c.3701A>G (p.Lys1234Arg)	ERBB4 (K1218R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715991	NM_005235.3(ERBB4):c.3656C>G (p.Ala1219Gly)	ERBB4 (A1219G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366434	NM_005235.3(ERBB4):c.3653A>G (p.Lys1218Arg)	ERBB4 (K1202R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090079	NM_005235.3(ERBB4):c.3644C>T (p.Thr1215Ile)	ERBB4 (T1199I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2877450	NM_005235.3(ERBB4):c.3642C>A (p.Asn1214Lys)	ERBB4 (N1198K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723072	NM_005235.3(ERBB4):c.3639C>T (p.Ala1213=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376242	NM_005235.3(ERBB4):c.3635T>C (p.Phe1212Ser)	ERBB4 (F1196S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 760722	NM_005235.3(ERBB4):c.3630C>T (p.Asn1210=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1470174	NM_005235.3(ERBB4):c.3613G>A (p.Glu1205Lys)	ERBB4 (E1205K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210017	NM_005235.3(ERBB4):c.3607G>T (p.Val1203Leu)	ERBB4 (V1187L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2061014	NM_005235.3(ERBB4):c.3595G>A (p.Glu1199Lys)	ERBB4 (E1183K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 727073	NM_005235.3(ERBB4):c.3594C>T (p.Ala1198=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2216218	NM_005235.3(ERBB4):c.3578A>G (p.Asn1193Ser)	ERBB4 (N1193S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 721289	NM_005235.3(ERBB4):c.3573A>T (p.Ala1191=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877613	NM_005235.3(ERBB4):c.3570T>C (p.Asn1190=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513286	NM_005235.3(ERBB4):c.3569A>G (p.Asn1190Ser)	ERBB4 (N1190S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932283	NM_005235.3(ERBB4):c.3565C>T (p.His1189Tyr)	ERBB4 (H1189Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192912	NM_005235.3(ERBB4):c.3558C>T (p.Pro1186=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176698	NM_005235.3(ERBB4):c.3547T>C (p.Leu1183=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113796	NM_005235.3(ERBB4):c.3527A>T (p.Lys1176Ile)	ERBB4 (K1160I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632136	NM_005235.3(ERBB4):c.3525A>C (p.Arg1175Ser)	ERBB4 (R1159S +1 more)	Single nucleotide variant (missense variant)	ERBB4-related disorder +1 more	GUncertain significance
Select item 3355890	NM_005235.3(ERBB4):c.3520C>A (p.Arg1174=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related disorder	GLikely benign
Select item 2805207	NM_005235.3(ERBB4):c.3519T>C (p.Ser1173=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801687	NM_005235.3(ERBB4):c.3494C>G (p.Pro1165Arg)	ERBB4 (P1149R +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10	GUncertain significance
Select item 2877915	NM_005235.3(ERBB4):c.3488T>C (p.Leu1163Pro)	ERBB4 (L1163P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023892	NM_005235.3(ERBB4):c.3482-18del	ERBB4	Deletion (intron variant)	not provided	GLikely benign
Select item 1243027	NM_005235.3(ERBB4):c.3481+249C>T	ERBB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2974164	NM_005235.3(ERBB4):c.3464G>A (p.Arg1155Gln)	ERBB4 (R1139Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498815	NM_005235.3(ERBB4):c.3446G>T (p.Gly1149Val)	ERBB4 (G1149V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982743	NM_005235.3(ERBB4):c.3433C>A (p.Leu1145Met)	ERBB4 (L1145M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1363726	NM_005235.3(ERBB4):c.3416G>A (p.Arg1139Gln)	ERBB4 (R1123Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932294	NM_005235.3(ERBB4):c.3413A>G (p.Glu1138Gly)	ERBB4 (E1122G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358280	NM_005235.3(ERBB4):c.3408C>T (p.Ala1136=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related disorder	GLikely benign
Select item 2419631	NM_005235.3(ERBB4):c.3400G>T (p.Val1134Leu)	ERBB4 (V1118L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162672	NM_005235.3(ERBB4):c.3400G>A (p.Val1134Met)	ERBB4 (V1118M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3349307	NM_005235.3(ERBB4):c.3391G>A (p.Asp1131Asn)	ERBB4 (D1115N +1 more)	Single nucleotide variant (missense variant)	ERBB4-related disorder	GUncertain significance
Select item 753881	NM_005235.3(ERBB4):c.3375C>G (p.Thr1125=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2322849	NM_005235.3(ERBB4):c.3374C>T (p.Thr1125Ile)	ERBB4 (T1109I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 797398	NM_005235.3(ERBB4):c.3339G>A (p.Lys1113=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343316	NM_005235.3(ERBB4):c.3337A>G (p.Lys1113Glu)	ERBB4 (K1097E +1 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 1344516	NM_005235.3(ERBB4):c.3335G>A (p.Arg1112His)	ERBB4 (R1096H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873194	NM_005235.3(ERBB4):c.3334C>T (p.Arg1112Cys)	ERBB4 (R1112C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2769641	NM_005235.3(ERBB4):c.3331C>T (p.Leu1111=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3054637	NM_005235.3(ERBB4):c.3327C>G (p.Gly1109=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related disorder	GLikely benign
Select item 3349722	NM_005235.3(ERBB4):c.3307G>T (p.Asp1103Tyr)	ERBB4 (D1087Y +1 more)	Single nucleotide variant (missense variant)	ERBB4-related disorder	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 2906864	NM_005235.3(ERBB4):c.3292A>C (p.Thr1098Pro)	ERBB4 (T1098P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995608	NM_005235.3(ERBB4):c.3257G>A (p.Ser1086Asn)	ERBB4 (S1086N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1374681	NM_005235.3(ERBB4):c.3253A>G (p.Thr1085Ala)	ERBB4 (T1069A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3350484	NM_005235.3(ERBB4):c.3249C>A (p.Ala1083=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related disorder	GLikely benign
Select item 3000955	NM_005235.3(ERBB4):c.3242A>G (p.Tyr1081Cys)	ERBB4 (Y1081C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013025	NM_005235.3(ERBB4):c.3240C>T (p.Pro1080=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781473	NM_005235.3(ERBB4):c.3238C>A (p.Pro1080Thr)	ERBB4 (P1080T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210024	NM_005235.3(ERBB4):c.3195A>G (p.Val1065=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2852814	NM_005235.3(ERBB4):c.3189G>C (p.Gln1063His)	ERBB4 (Q1047H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159655	NM_005235.3(ERBB4):c.3186C>A (p.Asn1062Lys)	ERBB4 (N1046K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787682	NM_005235.3(ERBB4):c.3184-13C>A	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278584	NM_005235.3(ERBB4):c.3184-292G>A	ERBB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267689	NM_005235.3(ERBB4):c.3183+285del	ERBB4	Deletion (intron variant)	not provided	GBenign
Select item 1357354	NM_005235.3(ERBB4):c.3182G>A (p.Gly1061Glu)	ERBB4 (G1061E)	Single nucleotide variant (missense variant +1 more)	ERBB4-related disorder +1 more	GUncertain significance
Select item 981020	NM_005235.3(ERBB4):c.3176T>C (p.Met1059Thr)	ERBB4 (M1059T)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis +1 more	GUncertain significance
Select item 2636841	NM_005235.3(ERBB4):c.3170C>T (p.Thr1057Ile)	ERBB4 (T1057I)	Single nucleotide variant (missense variant +1 more)	ERBB4-related disorder	GUncertain significance
Select item 3356489	NM_005235.3(ERBB4):c.3156T>C (p.Pro1052=)	ERBB4	Single nucleotide variant (synonymous variant +1 more)	ERBB4-related disorder	GLikely benign
Select item 1446483	NM_005235.3(ERBB4):c.3152G>A (p.Ser1051Asn)	ERBB4 (S1051N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951859	NM_005235.3(ERBB4):c.3143T>C (p.Ile1048Thr)	ERBB4 (I1048T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980283	NM_005235.3(ERBB4):c.3137G>A (p.Ser1046Asn)	ERBB4 (S1046N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1963255	NM_005235.3(ERBB4):c.3136-3T>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance

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