Related gene-specific medical variations for Gene (Select 1013) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265184	NM_004933.3(CDH15):c.1747G>A (p.Gly583Ser)	CDH15, LOC130059794 (G583S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3035019	NM_004933.3(CDH15):c.1851G>A (p.Leu617=)	CDH15, LOC130059794	Single nucleotide variant (synonymous variant)	CDH15-related disorder	GLikely benign
Select item 3025758	NM_004933.3(CDH15):c.1789G>A (p.Ala597Thr)	CDH15, LOC130059794 (A597T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647038	NM_004933.3(CDH15):c.1827C>G (p.Ile609Met)	CDH15, LOC130059794 (I609M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2647037	NM_004933.3(CDH15):c.1813G>C (p.Gly605Arg)	CDH15, LOC130059794 (G605R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647036	NM_004933.3(CDH15):c.1728C>T (p.Asn576=)	CDH15, LOC130059794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628873	NM_004933.3(CDH15):c.1796dup (p.Thr600fs)	CDH15, LOC130059794 (T600fs)	Duplication (frameshift variant)	CDH15-related disorder	GUncertain significance
Select item 2584664	NM_004933.3(CDH15):c.160G>T (p.Val54Leu)	CDH15 (V54L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2509557	NM_004933.3(CDH15):c.1840G>A (p.Ala614Thr)	CDH15, LOC130059794 (A614T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2439860	NM_004933.3(CDH15):c.1435C>T (p.His479Tyr)	CDH15 (H479Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439859	NM_004933.3(CDH15):c.1131_1141delinsCCTCT (p.Glu377_Arg381delinsAspLeuTrp)	CDH15	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2439858	NM_004933.3(CDH15):c.481G>T (p.Val161Leu)	CDH15 (V161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439857	NM_004933.3(CDH15):c.1017dup (p.Val340fs)	CDH15 (V340fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2439856	NM_004933.3(CDH15):c.2272G>A (p.Asp758Asn)	CDH15 (D758N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439855	NM_004933.3(CDH15):c.1590dup (p.Asn531fs)	CDH15 (N531fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2372179	NM_004933.3(CDH15):c.1729G>C (p.Val577Leu)	CDH15, LOC130059794 (V577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341857	NM_004933.3(CDH15):c.2071G>T (p.Ala691Ser)	CDH15 (A691S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 1338237	NM_004933.3(CDH15):c.1748G>A (p.Gly583Asp)	CDH15, LOC130059794 (G583D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1336355	NM_004933.3(CDH15):c.1855+9G>A	CDH15, LOC130059794	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1319070	NM_004933.3(CDH15):c.2038C>G (p.Leu680Val)	CDH15 (L680V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319069	NM_004933.3(CDH15):c.328C>A (p.Leu110Met)	CDH15 (L110M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1213779	NM_004933.3(CDH15):c.2218G>C (p.Glu740Gln)	CDH15 (E740Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 1098632	NM_004933.3(CDH15):c.607A>T (p.Ser203Cys)	CDH15 (S203C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 1034131	NM_004933.3(CDH15):c.1742G>A (p.Arg581His)	CDH15, LOC130059794 (R581H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 3	GUncertain significance
Select item 808144	NM_004933.3(CDH15):c.1275C>G (p.Asp425Glu)	CDH15 (D425E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729499	NM_004933.3(CDH15):c.792+7C>T	CDH15, LOC130059793	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 452625	NM_004933.3(CDH15):c.1711C>T (p.Arg571Cys)	CDH15, LOC130059794 (R571C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 434638	NM_004933.3(CDH15):c.1796G>T (p.Gly599Val)	CDH15, LOC130059794 (G599V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434630	NM_004933.3(CDH15):c.1849C>T (p.Leu617=)	CDH15, LOC130059794	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 210625	NM_004933.3(CDH15):c.1722T>G (p.Pro574=)	CDH15, LOC130059794	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 128646	NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln)	CDH15, LOC130059794 (K584Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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Links from Gene

Items: 31