PCDH12[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 147816	GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1	ARAP3, DELE1 +123 more	Copy number loss	See cases	GUncertain significance
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2184853	NM_016580.4(PCDH12):c.3528CAG[11] (p.Ser1181_Arg1182insSerSerSerSerSer)	PCDH12	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1365662	NM_016580.4(PCDH12):c.3528CAG[7] (p.Ser1181dup)	PCDH12	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1164145	NM_016580.4(PCDH12):c.3528CAG[10] (p.Ser1178_Ser1181dup)	PCDH12	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 769662	NM_016580.4(PCDH12):c.3528CAG[8] (p.Ser1180_Ser1181dup)	PCDH12	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 768040	NM_016580.4(PCDH12):c.3528CAG[9] (p.Ser1179_Ser1181dup)	PCDH12	Microsatellite (inframe_insertion)	not provided +2 more	GBenign
Select item 1633528	NM_016580.4(PCDH12):c.3528CAG[5] (p.Ser1181del)	PCDH12 (S1181del)	Microsatellite (inframe_deletion)	not provided +1 more	GLikely benign
Select item 1410707	NM_016580.4(PCDH12):c.3534_3535insGGCAGCAGCAGCAGC (p.Ser1178_Ser1179insGlySerSerSerSer)	PCDH12	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 773463	NM_016580.4(PCDH12):c.3527_3534GCA[2]GCGGCAGCAGCAGCAGCAGC[1] (p.Ser1178_Ser1179insGlySerSerSerSerSer)	PCDH12	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1433268	NM_016580.4(PCDH12):c.3528_3529insGGCAGCAGC (p.Gly1176_Ser1177insGlySerSer)	PCDH12	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2420296	NM_016580.4(PCDH12):c.3522C>G (p.Ser1174Arg)	PCDH12 (S1174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550504	NM_016580.4(PCDH12):c.3520A>G (p.Ser1174Gly)	PCDH12 (S1174G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2889160	NM_016580.4(PCDH12):c.3516C>A (p.Gly1172=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711817	NM_016580.4(PCDH12):c.3513G>C (p.Glu1171Asp)	PCDH12 (E1171D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2481138	NM_016580.4(PCDH12):c.3505G>A (p.Gly1169Arg)	PCDH12 (G1169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1641108	NM_016580.4(PCDH12):c.3504G>A (p.Thr1168=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2199306	NM_016580.4(PCDH12):c.3503C>T (p.Thr1168Met)	PCDH12 (T1168M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867314	NM_016580.4(PCDH12):c.3468A>T (p.Ser1156=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484507	NM_016580.4(PCDH12):c.3467C>G (p.Ser1156Ter)	PCDH12 (S1156*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1364964	NM_016580.4(PCDH12):c.3467C>T (p.Ser1156Leu)	PCDH12 (S1156L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899921	NM_016580.4(PCDH12):c.3450G>A (p.Leu1150=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 816886	NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr)	PCDH12 (D1149Y)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 1716633	NM_016580.4(PCDH12):c.3434C>T (p.Thr1145Ile)	PCDH12 (T1145I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1582024	NM_016580.4(PCDH12):c.3426C>T (p.Cys1142=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498530	NM_016580.4(PCDH12):c.3425G>A (p.Cys1142Tyr)	PCDH12 (C1142Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1375033	NM_016580.4(PCDH12):c.3420G>A (p.Ser1140=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434597	NM_016580.4(PCDH12):c.3419C>T (p.Ser1140Leu)	PCDH12 (S1140L)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 1355501	NM_016580.4(PCDH12):c.3413G>A (p.Arg1138Gln)	PCDH12 (R1138Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466335	NM_016580.4(PCDH12):c.3412C>T (p.Arg1138Trp)	PCDH12 (R1138W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1657234	NM_016580.4(PCDH12):c.3410G>A (p.Arg1137Gln)	PCDH12 (R1137Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2148455	NM_016580.4(PCDH12):c.3404C>T (p.Ala1135Val)	PCDH12 (A1135V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2535288	NM_016580.4(PCDH12):c.3400G>A (p.Glu1134Lys)	PCDH12 (E1134K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2121432	NM_016580.4(PCDH12):c.3400G>C (p.Glu1134Gln)	PCDH12 (E1134Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540976	NM_016580.4(PCDH12):c.3399C>T (p.Ser1133=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1466895	NM_016580.4(PCDH12):c.3394G>A (p.Ala1132Thr)	PCDH12 (A1132T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2079853	NM_016580.4(PCDH12):c.3393C>T (p.Ala1131=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491305	NM_016580.4(PCDH12):c.3380T>C (p.Met1127Thr)	PCDH12 (M1127T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1030566	NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys)	PCDH12 (R1124C)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +2 more	GUncertain significance
Select item 2061058	NM_016580.4(PCDH12):c.3364G>C (p.Glu1122Gln)	PCDH12 (E1122Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023221	NM_016580.4(PCDH12):c.3361C>T (p.Leu1121=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524483	NM_016580.4(PCDH12):c.3355A>C (p.Met1119Leu)	PCDH12 (M1119L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1170928	NM_016580.4(PCDH12):c.3354G>C (p.Glu1118Asp)	PCDH12 (E1118D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2017393	NM_016580.4(PCDH12):c.3345A>G (p.Ser1115=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712000	NM_016580.4(PCDH12):c.3333G>A (p.Ser1111=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181885	NM_016580.4(PCDH12):c.3332C>T (p.Ser1111Leu)	PCDH12 (S1111L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425071	NM_016580.4(PCDH12):c.3308C>T (p.Thr1103Met)	PCDH12 (T1103M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106395	NM_016580.4(PCDH12):c.3289G>C (p.Glu1097Gln)	PCDH12 (E1097Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136338	NM_016580.4(PCDH12):c.3271G>A (p.Gly1091Ser)	PCDH12 (G1091S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020852	NM_016580.4(PCDH12):c.3246_3271delinsTGCCTTGCTGGT (p.Glu1082fs)	PCDH12 (E1082fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2176949	NM_016580.4(PCDH12):c.3267G>A (p.Thr1089=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484969	NM_016580.4(PCDH12):c.3266C>T (p.Thr1089Met)	PCDH12 (T1089M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2547138	NM_016580.4(PCDH12):c.3265A>G (p.Thr1089Ala)	PCDH12 (T1089A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1445725	NM_016580.4(PCDH12):c.3251_3252delinsGG (p.Pro1084Arg)	PCDH12 (P1084R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1423735	NM_016580.4(PCDH12):c.3251_3252inv (p.Pro1084Leu)	PCDH12 (P1084L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1168157	NM_016580.4(PCDH12):c.3252A>G (p.Pro1084=)	PCDH12	Single nucleotide variant (synonymous variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1 +1 more	GBenign
Select item 3209141	NM_016580.4(PCDH12):c.3251C>T (p.Pro1084Leu)	PCDH12 (P1084L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546086	NM_016580.4(PCDH12):c.3250C>G (p.Pro1084Ala)	PCDH12 (P1084A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1559203	NM_016580.4(PCDH12):c.3246G>A (p.Glu1082=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715334	NM_016580.4(PCDH12):c.3244G>C (p.Glu1082Gln)	PCDH12 (E1082Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 760047	NM_016580.4(PCDH12):c.3221T>C (p.Ile1074Thr)	PCDH12 (I1074T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1626524	NM_016580.4(PCDH12):c.3209G>A (p.Arg1070His)	PCDH12 (R1070H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1640116	NM_016580.4(PCDH12):c.3183C>G (p.Leu1061=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625964	NM_016580.4(PCDH12):c.3177G>A (p.Ala1059=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659052	NM_016580.4(PCDH12):c.3165G>A (p.Pro1055=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1562240	NM_016580.4(PCDH12):c.3164C>T (p.Pro1055Leu)	PCDH12 (P1055L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2715546	NM_016580.4(PCDH12):c.3154G>A (p.Ala1052Thr)	PCDH12 (A1052T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1030565	NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln)	PCDH12 (R1049Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2091769	NM_016580.4(PCDH12):c.3145C>A (p.Arg1049=)	PCDH12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1435096	NM_016580.4(PCDH12):c.3145C>T (p.Arg1049Trp)	PCDH12 (R1049W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481799	NM_016580.4(PCDH12):c.3142G>A (p.Asp1048Asn)	PCDH12 (D1048N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164402	NM_016580.4(PCDH12):c.3131-9C>T	PCDH12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1567810	NM_016580.4(PCDH12):c.3131-20_3131-19delinsCC	PCDH12	Indel (intron variant)	not provided	GLikely benign
Select item 1250318	NM_016580.4(PCDH12):c.3131-97C>T	PCDH12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2071836	NM_016580.4(PCDH12):c.3122C>T (p.Pro1041Leu)	PCDH12, RNF14 (P1041L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948766	NM_016580.4(PCDH12):c.3105G>A (p.Leu1035=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1898642	NM_016580.4(PCDH12):c.3069G>A (p.Glu1023=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787294	NM_016580.4(PCDH12):c.3068A>C (p.Glu1023Ala)	PCDH12, RNF14 (E1023A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2200678	NM_016580.4(PCDH12):c.3052C>A (p.Pro1018Thr)	PCDH12, RNF14 (P1018T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2434599	NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)	PCDH12, RNF14 (E1015K)	Single nucleotide variant (missense variant)	Diencephalic-mesencephalic junction dysplasia syndrome 1	GUncertain significance
Select item 1392979	NM_016580.4(PCDH12):c.3033C>A (p.Asp1011Glu)	PCDH12, RNF14 (D1011E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1905450	NM_016580.4(PCDH12):c.3009_3019del (p.Ser1003fs)	PCDH12, RNF14 (S1003fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1997437	NM_016580.4(PCDH12):c.2979-3C>T	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1244949	NM_016580.4(PCDH12):c.2979-195_2979-192del	PCDH12, RNF14	Deletion (intron variant)	not provided	GBenign
Select item 1283413	NM_016580.4(PCDH12):c.2978+104G>A	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2835775	NM_016580.4(PCDH12):c.2978+15G>A	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601912	NM_016580.4(PCDH12):c.2978+11C>T	PCDH12, RNF14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 735954	NM_016580.4(PCDH12):c.2961C>T (p.Ala987=)	PCDH12, RNF14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493873	NM_016580.4(PCDH12):c.2950A>C (p.Lys984Gln)	PCDH12, RNF14 (K984Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471528	NM_016580.4(PCDH12):c.2948A>G (p.Asn983Ser)	PCDH12, RNF14 (N983S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170454	NM_016580.4(PCDH12):c.2942G>A (p.Arg981Gln)	PCDH12, RNF14 (R981Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 782457	NM_016580.4(PCDH12):c.2938C>T (p.His980Tyr)	PCDH12, RNF14 (H980Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2039798	NM_016580.4(PCDH12):c.2933C>A (p.Pro978Gln)	PCDH12, RNF14 (P978Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128033	NM_016580.4(PCDH12):c.2912A>G (p.Gln971Arg)	PCDH12, RNF14 (Q971R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188702	NM_016580.4(PCDH12):c.2905C>A (p.Leu969Met)	PCDH12, RNF14 (L969M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1505594	NM_016580.4(PCDH12):c.2851G>A (p.Glu951Lys)	PCDH12, RNF14 (E951K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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