ClinVar for Gene (Select 1012) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3350179	NM_001257.5(CDH13):c.877A>C (p.Lys293Gln)	CDH13 (K254Q +3 more)	Single nucleotide variant (missense variant)	CDH13-related disorder	GUncertain significance
Select item 3265180	NM_001257.5(CDH13):c.61T>C (p.Ser21Pro)	CDH13 (S21P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265179	NM_001257.5(CDH13):c.2000C>T (p.Pro667Leu)	CDH13 (P413L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265178	NM_001257.5(CDH13):c.2092A>C (p.Ser698Arg)	CDH13 (S444R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265177	NM_001257.5(CDH13):c.1087T>G (p.Phe363Val)	CDH13 (F324V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265176	NM_001257.5(CDH13):c.484G>A (p.Val162Ile)	CDH13 (V209I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3265175	NM_001257.5(CDH13):c.15T>G (p.Thr5=)	CDH13 (L17R)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3265174	NM_001257.5(CDH13):c.1442C>G (p.Pro481Arg)	CDH13 (P227R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3235724	NM_001257.5(CDH13):c.865C>T (p.Gln289Ter)	CDH13 (Q250* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3141108	NM_001257.5(CDH13):c.637C>T (p.Leu213=)	CDH13, LOC126862420	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3141107	NM_001257.5(CDH13):c.637C>G (p.Leu213Val)	CDH13, LOC126862420 (L260V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141106	NM_001257.5(CDH13):c.602G>A (p.Arg201Gln)	CDH13 (R162Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141105	NM_001257.5(CDH13):c.278C>G (p.Thr93Ser)	CDH13 (T93S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141104	NM_001257.5(CDH13):c.2093G>A (p.Ser698Asn)	CDH13 (S444N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141103	NM_001257.5(CDH13):c.206C>G (p.Ser69Trp)	CDH13 (S116W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141102	NM_001257.5(CDH13):c.1934G>A (p.Ser645Asn)	CDH13 (S692N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141101	NM_001257.5(CDH13):c.1409A>T (p.Asp470Val)	CDH13 (D216V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141100	NM_001257.5(CDH13):c.1318C>G (p.Leu440Val)	CDH13 (L487V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141099	NM_001257.5(CDH13):c.1289T>C (p.Leu430Ser)	CDH13 (L477S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063475	GRCh37/hg19 16q23.3-24.1(chr16:83307393-84530337)x3	ADAD2, ATP2C2 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3057329	NM_001257.5(CDH13):c.477T>G (p.Val159=)	CDH13	Single nucleotide variant (synonymous variant +2 more)	CDH13-related disorder	GLikely benign
Select item 3052355	NM_001257.5(CDH13):c.783C>A (p.Gly261=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3050077	NM_001257.5(CDH13):c.1116C>T (p.Val372=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3049177	NM_001257.5(CDH13):c.781+4T>A	CDH13, LOC126862420	Single nucleotide variant (intron variant)	CDH13-related disorder	GLikely benign
Select item 3048992	NM_001257.5(CDH13):c.684G>A (p.Pro228=)	CDH13, LOC126862420	Single nucleotide variant (synonymous variant +1 more)	CDH13-related disorder	GLikely benign
Select item 3048874	NM_001257.5(CDH13):c.45+12327A>G	CDH13 (Q62R)	Single nucleotide variant (missense variant +1 more)	CDH13-related disorder	GBenign
Select item 3047153	NM_001257.5(CDH13):c.45+8A>G	CDH13	Single nucleotide variant (intron variant)	CDH13-related disorder	GLikely benign
Select item 3046746	NM_001257.5(CDH13):c.903C>T (p.Ile301=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3043561	NM_001257.5(CDH13):c.1749G>T (p.Pro583=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3042892	NM_001257.5(CDH13):c.1731C>T (p.Asp577=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3037553	NM_001257.5(CDH13):c.1260C>T (p.Asn420=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3034360	NM_001257.5(CDH13):c.484-36483del	CDH13	Deletion (intron variant)	CDH13-related disorder	GLikely benign
Select item 2688752	NM_001257.5(CDH13):c.1133G>C (p.Gly378Ala)	CDH13 (G124A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685581	GRCh37/hg19 16q23.3(chr16:83250541-83310326)x1	CDH13	Copy number loss	not provided	GUncertain significance
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 2634177	NM_001257.5(CDH13):c.1753A>G (p.Ile585Val)	CDH13 (I331V +3 more)	Single nucleotide variant (missense variant)	CDH13-related disorder	GUncertain significance
Select item 2632383	NM_001257.5(CDH13):c.273del (p.Thr93fs)	CDH13 (T140fs +1 more)	Deletion (frameshift variant +1 more)	CDH13-related disorder	GUncertain significance
Select item 2616592	NM_001257.5(CDH13):c.1415A>G (p.Asn472Ser)	CDH13 (N472S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602092	NM_001257.5(CDH13):c.1648G>A (p.Val550Met)	CDH13, CEDORA (V296M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598048	NM_001257.5(CDH13):c.362T>C (p.Leu121Ser)	CDH13 (L168S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593783	NM_001257.5(CDH13):c.648G>T (p.Glu216Asp)	CDH13, LOC126862420 (E177D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589414	NM_001257.5(CDH13):c.760G>A (p.Val254Ile)	CDH13, LOC126862420 (V215I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560104	NM_001257.5(CDH13):c.772T>A (p.Ser258Thr)	CDH13, LOC126862420 (S305T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559536	NM_001257.5(CDH13):c.1688C>T (p.Pro563Leu)	CDH13 (P309L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554867	NM_001257.5(CDH13):c.476T>C (p.Val159Ala)	CDH13 (V159A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2552335	NM_001257.5(CDH13):c.233A>T (p.Asp78Val)	CDH13 (D78V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551927	NM_001257.5(CDH13):c.12A>G (p.Arg4=)	CDH13 (E16G)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2539318	NM_001257.5(CDH13):c.266C>T (p.Ala89Val)	CDH13 (A136V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533995	NM_001257.5(CDH13):c.869C>T (p.Thr290Met)	CDH13 (T251M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514684	NM_001257.5(CDH13):c.194G>A (p.Arg65His)	CDH13 (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2510585	NM_001257.5(CDH13):c.587G>T (p.Ser196Ile)	CDH13 (S157I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495572	NM_001257.5(CDH13):c.634C>G (p.Gln212Glu)	CDH13 (Q212E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467956	NM_001257.5(CDH13):c.1639G>A (p.Asp547Asn)	CDH13, CEDORA (D594N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459956	NM_001257.5(CDH13):c.490G>A (p.Asp164Asn)	CDH13 (D164N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457599	NM_001257.5(CDH13):c.1483G>A (p.Val495Met)	CDH13 (V241M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457217	NM_001257.5(CDH13):c.109C>A (p.His37Asn)	CDH13 (H37N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446725	GRCh37/hg19 16q23.3(chr16:82185047-83663374)x1	CDH13, LOC101928417 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2407625	NM_001257.5(CDH13):c.296G>A (p.Arg99Gln)	CDH13 (R99Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406415	NM_001257.5(CDH13):c.1763C>G (p.Thr588Arg)	CDH13 (T635R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405259	NM_001257.5(CDH13):c.2077G>A (p.Gly693Arg)	CDH13 (G439R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403636	NM_001257.5(CDH13):c.521G>A (p.Arg174Gln)	CDH13 (R221Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377546	NM_001257.5(CDH13):c.944C>T (p.Ala315Val)	CDH13 (A276V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374321	NM_001257.5(CDH13):c.653C>T (p.Thr218Ile)	CDH13, LOC126862420 (T179I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370547	NM_001257.5(CDH13):c.1871A>G (p.Lys624Arg)	CDH13 (K671R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367040	NM_001257.5(CDH13):c.238G>A (p.Gly80Ser)	CDH13 (G127S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2313639	NM_001257.5(CDH13):c.259A>T (p.Ile87Leu)	CDH13 (I134L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308632	NM_001257.5(CDH13):c.1781A>G (p.Asp594Gly)	CDH13 (D641G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296031	NM_001257.5(CDH13):c.2098C>G (p.Pro700Ala)	CDH13 (P446A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285979	NM_001257.5(CDH13):c.869C>A (p.Thr290Lys)	CDH13 (T337K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280704	NM_001257.5(CDH13):c.368A>G (p.Asp123Gly)	CDH13 (D123G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263009	NM_001257.5(CDH13):c.460C>T (p.Pro154Ser)	CDH13 (P154S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2241031	NM_001257.5(CDH13):c.1441C>A (p.Pro481Thr)	CDH13 (P442T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240806	NM_001257.5(CDH13):c.1051A>G (p.Ile351Val)	CDH13 (I351V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240208	NM_001257.5(CDH13):c.26T>C (p.Leu9Pro)	CDH13 (C21R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234886	NM_001257.5(CDH13):c.820G>A (p.Asp274Asn)	CDH13 (D235N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233516	NM_001257.5(CDH13):c.151C>G (p.Leu51Val)	CDH13 (L51V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229851	NM_001257.5(CDH13):c.1442C>A (p.Pro481His)	CDH13 (P227H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212737	NM_001257.5(CDH13):c.301C>T (p.Pro101Ser)	CDH13 (P101S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809217	GRCh37/hg19 16q23.3(chr16:82099909-83214832)x3	CDH13, HSD17B2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809174	GRCh37/hg19 16q23.3(chr16:82397606-83136235)x1	CDH13, LOC101928417	Copy number loss	not provided	GUncertain significance
Select item 1808982	GRCh37/hg19 16q23.3(chr16:82943629-84073053)x3	CDH13, HSBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808845	GRCh37/hg19 16q23.3(chr16:83159160-83231189)x1	CDH13	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1690333	NM_001257.5(CDH13):c.1703C>G (p.Thr568Ser)	CDH13 (T314S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526535	GRCh37/hg19 16q23.3(chr16:83398106-83620859)	CDH13	Copy number loss	not specified	GUncertain significance
Select item 1526534	GRCh37/hg19 16q23.3-24.1(chr16:83313106-84608026)	NECAB2, CDH13 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526533	GRCh37/hg19 16q23.3(chr16:82180977-83676947)	CDH13, LOC101928417 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1340120	GRCh37/hg19 16q23.3(chr16:83183020-83272583)x1	CDH13	Copy number loss	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1296159	NM_001257.5(CDH13):c.1682-279T>C	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296156	NM_001257.5(CDH13):c.1682-329A>G	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295144	NM_001257.5(CDH13):c.45+212T>C	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295134	NM_001257.5(CDH13):c.1916-280C>T	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285859	NM_001257.5(CDH13):c.1681+140A>C	CDH13, CEDORA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283875	NM_001257.5(CDH13):c.367-112A>G	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280598	NM_001257.5(CDH13):c.1539-311C>T	CDH13, CEDORA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279555	NM_001257.5(CDH13):c.1284+90A>G	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278402	NM_001257.5(CDH13):c.1682-59A>G	CDH13	Single nucleotide variant (intron variant)	not provided	GBenign

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