ClinVar for MedGen (Select 923028) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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