ClinVar for Gene (Select 1009) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141081	NM_001797.4(CDH11):c.904T>A (p.Leu302Ile)	CDH11 (L176I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141080	NM_001797.4(CDH11):c.359A>T (p.Glu120Val)	CDH11 (E120V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141079	NM_001797.4(CDH11):c.2383G>A (p.Asp795Asn)	CDH11 (D795N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141078	NM_001797.4(CDH11):c.2374T>C (p.Phe792Leu)	CDH11 (F792L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141077	NM_001797.4(CDH11):c.1881C>G (p.Ile627Met)	CDH11 (I501M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141076	NM_001797.4(CDH11):c.1328C>T (p.Thr443Ile)	CDH11 (T317I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141075	NM_001797.4(CDH11):c.1297A>G (p.Ile433Val)	CDH11 (I433V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068030	NM_001797.4(CDH11):c.409C>T (p.Arg137Trp)	CDH11 (R11W +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome	GUncertain significance
Select item 3066143	NM_001797.4(CDH11):c.1177C>T (p.Gln393Ter)	CDH11 (Q267* +1 more)	Single nucleotide variant (nonsense)	Elsahy-Waters syndrome	GUncertain significance
Select item 3065302	NM_001797.4(CDH11):c.1390C>T (p.His464Tyr)	CDH11 (H338Y +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3060946	NM_001797.4(CDH11):c.*7C>T	CDH11	Single nucleotide variant (3 prime UTR variant)	CDH11-related condition	GLikely benign
Select item 3056278	NM_001797.4(CDH11):c.1039G>C (p.Val347Leu)	CDH11 (V221L +1 more)	Single nucleotide variant (missense variant)	CDH11-related condition	GBenign
Select item 3043027	NM_001797.4(CDH11):c.*8G>C	CDH11	Single nucleotide variant (3 prime UTR variant)	CDH11-related condition	GLikely benign
Select item 3038846	NM_001797.4(CDH11):c.198C>T (p.Tyr66=)	CDH11	Single nucleotide variant (synonymous variant +1 more)	CDH11-related condition	GLikely benign
Select item 3033576	NM_001797.4(CDH11):c.1895-503C>G	CDH11	Single nucleotide variant (intron variant)	CDH11-related condition	GLikely benign
Select item 3026223	NM_001797.4(CDH11):c.1248G>A (p.Pro416=)	CDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025636	NM_001797.4(CDH11):c.2073C>G (p.Ile691Met)	CDH11 (I565M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	CDH11-related condition +1 more	GBenign/Likely benign
Select item 2672641	NM_001797.4(CDH11):c.1895-561A>G	CDH11 (I674M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646592	NM_001797.4(CDH11):c.644-5T>G	CDH11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2646591	NM_001797.4(CDH11):c.903C>T (p.Gly301=)	CDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646590	NM_001797.4(CDH11):c.1096del (p.Asp366fs)	CDH11 (D240fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2646589	NM_001797.4(CDH11):c.1895-547del	CDH11 (L679fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2646588	NM_001797.4(CDH11):c.1895-507A>G	CDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2646587	NM_001797.4(CDH11):c.2133G>A (p.Ala711=)	CDH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2646586	NM_001797.4(CDH11):c.2229C>T (p.Tyr743=)	CDH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2646585	NM_001797.4(CDH11):c.2382C>T (p.Asp794=)	CDH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2633487	NM_001797.4(CDH11):c.1895-569dup	CDH11 (V672fs)	Duplication (frameshift variant +1 more)	CDH11-related condition	GUncertain significance
Select item 2607002	NM_001797.4(CDH11):c.391G>A (p.Val131Met)	CDH11 (V131M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602001	NM_001797.4(CDH11):c.1786G>T (p.Asp596Tyr)	CDH11 (D470Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575896	NM_001797.4(CDH11):c.*239dup	CDH11	Duplication (3 prime UTR variant)	Orofacial cleft 1	GUncertain significance
Select item 2572369	NM_001797.4(CDH11):c.778G>C (p.Asp260His)	CDH11 (D134H +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome	GLikely pathogenic
Select item 2559396	NM_001797.4(CDH11):c.2024C>T (p.Ala675Val)	CDH11 (A549V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507771	NM_001797.4(CDH11):c.82C>T (p.Arg28Trp)	CDH11 (R28W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502759	NM_001797.4(CDH11):c.83G>A (p.Arg28Gln)	CDH11 (R28Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2500121	NM_001797.4(CDH11):c.229C>T (p.Leu77Phe)	CDH11 (L77F)	Single nucleotide variant (missense variant +1 more)	Teebi hypertelorism syndrome 2	GLikely pathogenic
Select item 2493355	NM_001797.4(CDH11):c.703G>A (p.Val235Met)	CDH11 (V235M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489194	NM_001797.4(CDH11):c.2296G>A (p.Asp766Asn)	CDH11 (D640N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462979	NM_001797.4(CDH11):c.1351A>G (p.Thr451Ala)	CDH11 (T325A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462301	NM_001797.4(CDH11):c.1397G>A (p.Arg466Gln)	CDH11 (R340Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458979	NM_001797.4(CDH11):c.1664C>T (p.Ala555Val)	CDH11 (A429V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2431933	NM_001797.4(CDH11):c.2002G>A (p.Gly668Ser)	CDH11 (G542S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Elsahy-Waters syndrome	GUncertain significance
Select item 2401413	NM_001797.4(CDH11):c.1564G>T (p.Ala522Ser)	CDH11 (A522S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385917	NM_001797.4(CDH11):c.103T>C (p.Phe35Leu)	CDH11 (F35L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369699	NM_001797.4(CDH11):c.1299T>G (p.Ile433Met)	CDH11 (I433M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356828	NM_001797.4(CDH11):c.961G>T (p.Asp321Tyr)	CDH11 (D195Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344291	NM_001797.4(CDH11):c.1702T>C (p.Tyr568His)	CDH11 (Y442H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2337410	NM_001797.4(CDH11):c.1409C>T (p.Ala470Val)	CDH11 (A470V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332098	NM_001797.4(CDH11):c.1724G>T (p.Ser575Ile)	CDH11 (S575I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299962	NM_001797.4(CDH11):c.1760C>G (p.Thr587Ser)	CDH11 (T461S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299734	NM_001797.4(CDH11):c.1774G>A (p.Val592Ile)	CDH11 (V592I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287957	NM_001797.4(CDH11):c.1270C>G (p.His424Asp)	CDH11 (H298D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287224	NM_001797.4(CDH11):c.2187C>A (p.Asp729Glu)	CDH11 (D603E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277448	NM_001797.4(CDH11):c.94C>T (p.Arg32Trp)	CDH11 (R32W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275969	NM_001797.4(CDH11):c.695A>T (p.Tyr232Phe)	CDH11 (Y232F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261566	NM_001797.4(CDH11):c.1430G>A (p.Arg477Lys)	CDH11 (R477K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249114	NM_001797.4(CDH11):c.1945A>G (p.Ile649Val)	CDH11 (I523V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236863	NM_001797.4(CDH11):c.1366A>T (p.Ile456Phe)	CDH11 (I330F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236701	NM_001797.4(CDH11):c.1666C>T (p.Arg556Trp)	CDH11 (R430W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2175044	NM_001797.4(CDH11):c.1852G>A (p.Gly618Ser)	CDH11 (G618S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2102435	NM_001797.4(CDH11):c.133G>A (p.Gly45Arg)	CDH11 (G45R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1339271	NM_001797.4(CDH11):c.835G>C (p.Glu279Gln)	CDH11 (E279Q +1 more)	Single nucleotide variant (missense variant)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1339270	NM_001797.4(CDH11):c.1121T>A (p.Val374Glu)	CDH11 (V374E +1 more)	Single nucleotide variant (missense variant)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1339269	NM_001797.4(CDH11):c.778G>A (p.Asp260Asn)	CDH11 (D260N +1 more)	Single nucleotide variant (missense variant)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1339268	NM_001797.4(CDH11):c.780T>A (p.Asp260Glu)	CDH11 (D260E +1 more)	Single nucleotide variant (missense variant)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1339267	NM_001797.4(CDH11):c.164G>C (p.Trp55Ser)	CDH11 (W55S)	Single nucleotide variant (missense variant +1 more)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1339266	NM_001797.4(CDH11):c.979G>T (p.Gly327Trp)	CDH11 (G327W +1 more)	Single nucleotide variant (missense variant)	Teebi hypertelorism syndrome 2	GPathogenic
Select item 1335215	NM_001797.4(CDH11):c.1053C>T (p.Asn351=)	CDH11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1304761	NM_001797.4(CDH11):c.2024C>G (p.Ala675Gly)	CDH11 (A549G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1205521	NM_001797.4(CDH11):c.523+4C>T	CDH11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194299	NM_001797.4(CDH11):c.682G>T (p.Ala228Ser)	CDH11 (A102S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192584	NM_001797.4(CDH11):c.644-11T>C	CDH11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192583	NM_001797.4(CDH11):c.764C>T (p.Thr255Met)	CDH11 (T129M +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome +1 more	GBenign
Select item 1192582	NM_001797.4(CDH11):c.825G>A (p.Met275Ile)	CDH11 (M149I +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome	GBenign
Select item 1192581	NM_001797.4(CDH11):c.945G>A (p.Ser315=)	CDH11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1192549	NM_001797.4(CDH11):c.1117T>G (p.Ser373Ala)	CDH11 (S247A +1 more)	Single nucleotide variant (missense variant)	Elsahy-Waters syndrome	GBenign
Select item 1192548	NM_001797.4(CDH11):c.1253+43G>C	CDH11	Single nucleotide variant (intron variant)	Elsahy-Waters syndrome	GBenign
Select item 1192547	NM_001797.4(CDH11):c.1642+20C>T	CDH11	Single nucleotide variant (intron variant)	Elsahy-Waters syndrome	GBenign
Select item 1179215	NM_001797.4(CDH11):c.811+13A>G	CDH11	Single nucleotide variant (intron variant)	Elsahy-Waters syndrome +1 more	GBenign
Select item 987332	NM_001797.4(CDH11):c.1639C>T (p.Arg547Ter)	CDH11 (R421* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 980680	GRCh37/hg19 16q21(chr16:65079691-65285496)x3	CDH11	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 915374	NM_001797.4(CDH11):c.1895-599A>T	CDH11 (K662*)	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 808176	GRCh37/hg19 16q21-22.1(chr16:64981506-66806661)x3	TK2, BEAN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 740670	NM_001797.4(CDH11):c.1563G>A (p.Thr521=)	CDH11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725986	NM_001797.4(CDH11):c.932A>G (p.Asp311Gly)	CDH11 (D185G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719533	NM_001797.4(CDH11):c.1446C>T (p.Asn482=)	CDH11	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 713187	NM_001797.4(CDH11):c.1432G>A (p.Val478Ile)	CDH11 (V478I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 713162	NM_001797.4(CDH11):c.87G>A (p.Gly29=)	CDH11	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711524	NM_001797.4(CDH11):c.1424C>T (p.Ala475Val)	CDH11 (A475V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 564335	GRCh37/hg19 16q21(chr16:65153440-65313186)x1	CDH11	Copy number loss	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	AARS1, ABCC11 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	ADCY7, ADGRG1 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523099	NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter)	CDH11 (Y232* +1 more)	Single nucleotide variant (nonsense)	Elsahy-Waters syndrome	GPathogenic
Select item 523098	NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs)	CDH11 (I246fs +1 more)	Indel (frameshift variant)	Elsahy-Waters syndrome	GPathogenic
Select item 523097	NM_001797.4(CDH11):c.999+1G>T	CDH11	Single nucleotide variant (splice donor variant)	Elsahy-Waters syndrome	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AGRP, AHSP +590 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	JPT2, KARS1 +810 more	Copy number gain	See cases	GPathogenic

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