ClinVar for Gene (Select 2066) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063763	NM_005235.3(ERBB4):c.2371A>G (p.Thr791Ala)	ERBB4 (T791A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 3062569	GRCh37/hg19 2q34(chr2:211708028-212975940)x3	ERBB4	Copy number gain	not specified	GUncertain significance
Select item 3054637	NM_005235.3(ERBB4):c.3327C>G (p.Gly1109=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3052412	NM_005235.3(ERBB4):c.858A>G (p.Gly286=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3051348	NM_005235.3(ERBB4):c.2760C>G (p.Pro920=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3047230	NM_005235.3(ERBB4):c.827A>G (p.Glu276Gly)	ERBB4 (E276G)	Single nucleotide variant (missense variant)	ERBB4-related condition	GUncertain significance
Select item 3044301	NM_005235.3(ERBB4):c.57C>G (p.Thr19=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3032853	NM_005235.3(ERBB4):c.1644T>C (p.Asn548=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3032256	NM_005235.3(ERBB4):c.2031G>A (p.Arg677=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition	GLikely benign
Select item 3023892	NM_005235.3(ERBB4):c.3482-18del	ERBB4	Deletion (intron variant)	not provided	GLikely benign
Select item 3018431	NM_005235.3(ERBB4):c.1617T>C (p.Tyr539=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013025	NM_005235.3(ERBB4):c.3240C>T (p.Pro1080=)	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 3012657	NM_005235.3(ERBB4):c.1431_1432del (p.Phe478fs)	ERBB4 (F478fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3010710	NM_005235.3(ERBB4):c.623-20C>T	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006595	NM_005235.3(ERBB4):c.3026A>G (p.Asp1009Gly)	ERBB4 (D1009G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004506	NM_005235.3(ERBB4):c.480C>T (p.Thr160=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	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 2999193	NM_005235.3(ERBB4):c.3735C>T (p.His1245=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996583	NM_005235.3(ERBB4):c.1712G>C (p.Gly571Ala)	ERBB4 (G571A)	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 2995219	NM_005235.3(ERBB4):c.843A>G (p.Ala281=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition +1 more	GLikely benign
Select item 2994941	NM_005235.3(ERBB4):c.955G>A (p.Gly319Arg)	ERBB4 (G319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993721	NM_005235.3(ERBB4):c.1057A>G (p.Ile353Val)	ERBB4 (I353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993481	NM_005235.3(ERBB4):c.1737G>A (p.Lys579=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992311	NM_005235.3(ERBB4):c.2109A>G (p.Thr703=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989675	NM_005235.3(ERBB4):c.1965T>C (p.Ala655=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition +1 more	GLikely benign
Select item 2989217	NM_005235.3(ERBB4):c.654C>T (p.Asp218=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989097	NM_005235.3(ERBB4):c.1570C>T (p.Arg524Cys)	ERBB4 (R524C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989047	NM_005235.3(ERBB4):c.1981C>G (p.Leu661Val)	ERBB4 (L661V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989008	NM_005235.3(ERBB4):c.1872G>T (p.Gly624=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2988037	NM_005235.3(ERBB4):c.42C>G (p.Leu14=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987080	NM_005235.3(ERBB4):c.665A>G (p.Tyr222Cys)	ERBB4 (Y222C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985569	NM_005235.3(ERBB4):c.1917G>A (p.Thr639=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984939	NM_005235.3(ERBB4):c.82+8C>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984712	NM_005235.3(ERBB4):c.1171G>A (p.Val391Ile)	ERBB4 (V391I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984360	NM_005235.3(ERBB4):c.1947-18_1947-17insTC	ERBB4	Insertion (intron variant)	not provided	GLikely benign
Select item 2983326	NM_005235.3(ERBB4):c.1573C>T (p.Arg525Cys)	ERBB4 (R525C)	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)	not provided	GUncertain significance
Select item 2982052	NM_005235.3(ERBB4):c.258C>T (p.Tyr86=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980283	NM_005235.3(ERBB4):c.3137G>A (p.Ser1046Asn)	ERBB4 (S1046N)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2979304	NM_005235.3(ERBB4):c.1489+13C>T	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979096	NM_005235.3(ERBB4):c.623-12T>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977606	NM_005235.3(ERBB4):c.623-13C>T	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975007	NM_005235.3(ERBB4):c.3122T>C (p.Ile1041Thr)	ERBB4 (I1041T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974232	NM_005235.3(ERBB4):c.557-11G>A	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2972007	NM_005235.3(ERBB4):c.2203-19T>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971971	NM_005235.3(ERBB4):c.1518G>A (p.Leu506=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971311	NM_005235.3(ERBB4):c.695G>A (p.Arg232Gln)	ERBB4 (R232Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969440	NM_005235.3(ERBB4):c.82+3G>A	ERBB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2968238	NM_005235.3(ERBB4):c.1842C>T (p.Cys614=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2966041	NM_005235.3(ERBB4):c.1536T>C (p.Cys512=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964692	NM_005235.3(ERBB4):c.1931T>C (p.Leu644Ser)	ERBB4 (L644S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964076	NM_005235.3(ERBB4):c.1685T>C (p.Met562Thr)	ERBB4 (M562T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963801	NM_005235.3(ERBB4):c.1710T>C (p.His570=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963078	NM_005235.3(ERBB4):c.2108C>A (p.Thr703Lys)	ERBB4 (T703K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957404	NM_005235.3(ERBB4):c.2719+20G>A	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956586	NM_005235.3(ERBB4):c.2487+16T>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912074	NM_005235.3(ERBB4):c.1289+6T>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2910154	NM_005235.3(ERBB4):c.2428G>A (p.Glu810Lys)	ERBB4 (E810K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907582	NM_005235.3(ERBB4):c.341G>A (p.Arg114Gln)	ERBB4 (R114Q)	Single nucleotide variant (missense variant)	not provided	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 2904797	NM_005235.3(ERBB4):c.2618A>C (p.Lys873Thr)	ERBB4 (K873T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903211	NM_005235.3(ERBB4):c.1699C>T (p.Leu567Phe)	ERBB4 (L567F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901034	NM_005235.3(ERBB4):c.1489+7A>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900091	NM_005235.3(ERBB4):c.2487+7G>A	ERBB4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2898174	NM_005235.3(ERBB4):c.242G>A (p.Arg81Gln)	ERBB4 (R81Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896877	NM_005235.3(ERBB4):c.2427C>T (p.His809=)	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 2895410	NM_005235.3(ERBB4):c.477C>T (p.Asp159=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2894682	NM_005235.3(ERBB4):c.453G>A (p.Gln151=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891510	NM_005235.3(ERBB4):c.633G>A (p.Thr211=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2889169	NM_005235.3(ERBB4):c.1878C>T (p.Asn626=)	ERBB4	Single nucleotide variant (synonymous variant)	ERBB4-related condition +1 more	GLikely benign
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 2887176	NM_005235.3(ERBB4):c.2975G>A (p.Arg992His)	ERBB4 (R992H)	Single nucleotide variant (missense variant)	not provided	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 2877613	NM_005235.3(ERBB4):c.3570T>C (p.Asn1190=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2873593	NM_005235.3(ERBB4):c.3926A>G (p.Ter1309=)	ERBB4	Single nucleotide variant (synonymous 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 2868334	NM_005235.3(ERBB4):c.2730A>C (p.Ile910=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863256	NM_005235.3(ERBB4):c.1674G>A (p.Gln558=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861409	NM_005235.3(ERBB4):c.422-13T>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2850542	NM_005235.3(ERBB4):c.328C>G (p.Leu110Val)	ERBB4 (L110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843124	NM_005235.3(ERBB4):c.1198+18A>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842745	NM_005235.3(ERBB4):c.3058G>A (p.Glu1020Lys)	ERBB4 (E1020K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2828624	NM_005235.3(ERBB4):c.2867-15T>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2817945	NM_005235.3(ERBB4):c.2244G>A (p.Val748=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816640	NM_005235.3(ERBB4):c.2123C>T (p.Ala708Val)	ERBB4 (A708V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811653	NM_005235.3(ERBB4):c.269C>T (p.Ala90Val)	ERBB4 (A90V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807508	NM_005235.3(ERBB4):c.1347C>G (p.Ser449=)	ERBB4	Single nucleotide variant (synonymous variant)	not provided	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 2804571	NM_005235.3(ERBB4):c.2720-19A>C	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803010	NM_005235.3(ERBB4):c.1490-17A>G	ERBB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794673	NM_005235.3(ERBB4):c.794C>A (p.Thr265Asn)	ERBB4 (T265N)	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 2781473	NM_005235.3(ERBB4):c.3238C>A (p.Pro1080Thr)	ERBB4 (P1080T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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