HOMER2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58083	GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3	LOC130057773, LOC130057774 +72 more	Copy number gain	See cases	GPathogenic
Select item 147948	GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 155058	GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1	ADAMTSL3, ALPK3 +119 more	Copy number loss	See cases	GLikely pathogenic
Select item 1320602	NM_004839.4(HOMER2):c.*172C>T	HOMER2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2022503	NM_004839.4(HOMER2):c.1031A>T (p.Ter344Leu)	HOMER2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2767236	NM_004839.4(HOMER2):c.1030T>G (p.Ter344Glu)	HOMER2	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2728238	NM_004839.4(HOMER2):c.1025A>G (p.Asp342Gly)	HOMER2 (D342G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1941665	NM_004839.4(HOMER2):c.1023C>T (p.Thr341=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 513748	NM_004839.4(HOMER2):c.1023C>G (p.Thr341=)	HOMER2	Single nucleotide variant (synonymous variant)	HOMER2-related condition +1 more	GBenign/Likely benign
Select item 1420504	NM_004839.4(HOMER2):c.1004G>A (p.Gly335Glu)	HOMER2 (G335E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2195942	NM_004839.4(HOMER2):c.998G>A (p.Arg333His)	HOMER2 (R333H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508610	NM_004839.4(HOMER2):c.981C>T (p.Asp327=)	HOMER2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1475075	NM_004839.4(HOMER2):c.977T>C (p.Ile326Thr)	HOMER2 (I337T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2831943	NM_004839.4(HOMER2):c.974A>G (p.Lys325Arg)	HOMER2 (K336R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1318090	NM_004839.4(HOMER2):c.969C>T (p.Asp323=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889425	NM_004839.4(HOMER2):c.967G>A (p.Asp323Asn)	HOMER2 (D323N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630024	NM_004839.4(HOMER2):c.944T>A (p.Leu315Ter)	HOMER2 (L315* +1 more)	Single nucleotide variant (nonsense)	HOMER2-related condition	GUncertain significance
Select item 1360068	NM_004839.4(HOMER2):c.925C>T (p.Arg309Cys)	HOMER2 (R309C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696351	NM_004839.4(HOMER2):c.915A>G (p.Lys305=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958284	NM_004839.4(HOMER2):c.896C>T (p.Thr299Ile)	HOMER2 (T310I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343851	NM_004839.4(HOMER2):c.844-43C>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683266	NM_004839.4(HOMER2):c.844-47C>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3057749	NM_004839.4(HOMER2):c.843+9G>A	HOMER2	Single nucleotide variant (intron variant)	HOMER2-related condition	GLikely benign
Select item 508589	NM_004839.4(HOMER2):c.819C>T (p.Cys273=)	HOMER2	Single nucleotide variant (synonymous variant)	HOMER2-related condition +2 more	GBenign
Select item 1461880	NM_004839.4(HOMER2):c.815A>G (p.Glu272Gly)	HOMER2 (E283G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 922123	NM_004839.4(HOMER2):c.807dup (p.Met270fs)	HOMER2 (M270fs +1 more)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 68	GPathogenic
Select item 1013607	NM_004839.4(HOMER2):c.799_803del (p.Pro267fs)	HOMER2 (P267fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 68	GPathogenic
Select item 1506637	NM_004839.4(HOMER2):c.799C>A (p.Pro267Thr)	HOMER2 (P267T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2295477	NM_004839.4(HOMER2):c.797T>C (p.Ile266Thr)	HOMER2 (I277T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1318195	NM_004839.4(HOMER2):c.793A>G (p.Ile265Val)	HOMER2 (I265V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2421788	NM_004839.4(HOMER2):c.779G>A (p.Arg260Gln)	HOMER2 (R260Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2509437	NM_004839.4(HOMER2):c.765G>C (p.Glu255Asp)	HOMER2 (E255D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 508630	NM_004839.4(HOMER2):c.764A>G (p.Glu255Gly)	HOMER2 (E266G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 594584	NM_004839.4(HOMER2):c.763-8del	HOMER2	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1182292	NM_004839.4(HOMER2):c.763-245T>C	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225211	NM_004839.4(HOMER2):c.762+312C>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316803	NM_004839.4(HOMER2):c.762+124G>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316675	NM_004839.4(HOMER2):c.762+35G>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317717	NM_004839.4(HOMER2):c.762+27C>G	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959378	NM_004839.4(HOMER2):c.762+17C>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920286	NM_004839.4(HOMER2):c.762+2T>A	HOMER2	Single nucleotide variant (splice donor variant)	not provided	GLikely benign
Select item 2056824	NM_004839.4(HOMER2):c.751G>C (p.Glu251Gln)	HOMER2 (E251Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038734	NM_004839.4(HOMER2):c.732G>A (p.Glu244=)	HOMER2	Single nucleotide variant (synonymous variant)	HOMER2-related condition	GLikely benign
Select item 2148062	NM_004839.4(HOMER2):c.727G>A (p.Glu243Lys)	HOMER2 (E243K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751046	NM_004839.4(HOMER2):c.711G>A (p.Gln237=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1316779	NM_004839.4(HOMER2):c.707C>T (p.Thr236Met)	HOMER2 (T236M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1386536	NM_004839.4(HOMER2):c.702G>C (p.Lys234Asn)	HOMER2 (K234N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1715740	NM_004839.4(HOMER2):c.672A>T (p.Gln224His)	HOMER2 (Q224H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997467	NM_004839.4(HOMER2):c.652-18G>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267704	NM_004839.4(HOMER2):c.652-32G>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296844	NM_004839.4(HOMER2):c.651+233T>C	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275674	NM_004839.4(HOMER2):c.651+28G>C	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1607785	NM_004839.4(HOMER2):c.651+19G>C	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 508119	NM_004839.4(HOMER2):c.651+9G>A	HOMER2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3106470	NM_004839.4(HOMER2):c.650A>C (p.Lys217Thr)	HOMER2 (K228T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1510239	NM_004839.4(HOMER2):c.650A>G (p.Lys217Arg)	HOMER2 (K217R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500298	NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys)	HOMER2 (R215C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1318113	NM_004839.4(HOMER2):c.638G>A (p.Arg213Gln)	HOMER2 (R213Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2629463	NM_004839.4(HOMER2):c.637C>T (p.Arg213Trp)	HOMER2 (R213W +1 more)	Single nucleotide variant (missense variant)	HOMER2-related condition	GUncertain significance
Select item 508698	NM_004839.4(HOMER2):c.623G>A (p.Arg208His)	HOMER2 (R219H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2168664	NM_004839.4(HOMER2):c.613T>G (p.Ser205Ala)	HOMER2 (S216A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500844	NM_004839.4(HOMER2):c.609G>T (p.Gln203His)	HOMER2 (Q203H +1 more)	Single nucleotide variant (missense variant)	HOMER2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2192138	NM_004839.4(HOMER2):c.594G>A (p.Glu198=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2971282	NM_004839.4(HOMER2):c.591G>A (p.Val197=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605541	NM_004839.4(HOMER2):c.587G>C (p.Ser196Thr)	HOMER2 (S196T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408036	NM_004839.4(HOMER2):c.578C>T (p.Ser193Leu)	HOMER2 (S193L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1474878	NM_004839.4(HOMER2):c.554G>A (p.Arg185Gln)	HOMER2 (R196Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 218351	NM_004839.4(HOMER2):c.554G>C (p.Arg185Pro)	HOMER2 (R185P +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 68	GPathogenic
Select item 2327288	NM_004839.4(HOMER2):c.541G>C (p.Glu181Gln)	HOMER2 (E181Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1278549	NM_004839.4(HOMER2):c.539G>A (p.Arg180Gln)	HOMER2 (R180Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1658480	NM_004839.4(HOMER2):c.525G>A (p.Glu175=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328847	NM_004839.4(HOMER2):c.505G>A (p.Val169Met)	HOMER2 (V169M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3067392	NM_004839.4(HOMER2):c.504C>T (p.Asn168=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693288	NM_004839.4(HOMER2):c.499G>A (p.Ala167Thr)	HOMER2 (A167T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2994006	NM_004839.4(HOMER2):c.497C>T (p.Ala166Val)	HOMER2 (A166V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1644078	NM_004839.4(HOMER2):c.495-13C>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1663753	NM_004839.4(HOMER2):c.495-15_495-14delinsTC	HOMER2	Indel (intron variant)	not provided	GLikely benign
Select item 1316356	NM_004839.4(HOMER2):c.495-14T>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3022394	NM_004839.4(HOMER2):c.495-16C>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1675048	NM_004839.4(HOMER2):c.495-19G>A	HOMER2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1573209	NM_004839.4(HOMER2):c.495-20C>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277429	NM_004839.4(HOMER2):c.494+219A>T	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2063632	NM_004839.4(HOMER2):c.494+4A>G	HOMER2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2076203	NM_004839.4(HOMER2):c.494G>A (p.Ser165Asn)	HOMER2 (S165N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053125	NM_004839.4(HOMER2):c.489G>A (p.Thr163=)	HOMER2	Single nucleotide variant (synonymous variant)	HOMER2-related condition	GLikely benign
Select item 2520139	NM_004839.4(HOMER2):c.488C>T (p.Thr163Met)	HOMER2 (T174M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2158596	NM_004839.4(HOMER2):c.432C>T (p.Ala144=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1050340	NM_004839.4(HOMER2):c.430G>A (p.Ala144Thr)	HOMER2 (A144T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2299934	NM_004839.4(HOMER2):c.407C>T (p.Thr136Met)	HOMER2 (T147M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1597667	NM_004839.4(HOMER2):c.402C>T (p.Asn134=)	HOMER2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512672	NM_004839.4(HOMER2):c.393C>T (p.Ser131=)	HOMER2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1349521	NM_004839.4(HOMER2):c.388-8_388-3del	HOMER2	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 1945658	NM_004839.4(HOMER2):c.388-16C>T	HOMER2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1701264	NM_004839.4(HOMER2):c.388-17C>G	HOMER2 (T135S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1262878	NM_004839.4(HOMER2):c.388-25G>A	HOMER2	Single nucleotide variant (synonymous variant +1 more)	HOMER2-related condition +1 more	GBenign
Select item 1268696	NM_004839.4(HOMER2):c.388-61A>G	HOMER2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220857	NM_004839.4(HOMER2):c.388-179dup	HOMER2	Duplication (intron variant)	not provided	GBenign
Select item 1316666	NM_004839.4(HOMER2):c.388-180_388-179insGTTTA	HOMER2	Insertion (intron variant)	not provided	GLikely benign

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