ClinVar for Gene (Select 1000) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075674	NM_001792.5(CDH2):c.1159-1G>A	CDH2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia, familial, 14	GPathogenic
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 3051291	NM_001792.5(CDH2):c.*8G>C	CDH2	Single nucleotide variant (3 prime UTR variant)	CDH2-related condition	GLikely benign
Select item 3035069	NM_001792.5(CDH2):c.1446A>C (p.Ala482=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related condition	GLikely benign
Select item 3029659	NM_001792.5(CDH2):c.410A>T (p.Glu137Val)	CDH2 (E106V +1 more)	Single nucleotide variant (missense variant)	CDH2-related condition	GUncertain significance
Select item 3026036	NM_001792.5(CDH2):c.1535C>T (p.Ala512Val)	CDH2 (A481V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023726	NM_001792.5(CDH2):c.1020+7C>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010022	NM_001792.5(CDH2):c.1944T>G (p.Ile648Met)	CDH2 (I617M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009748	NM_001792.5(CDH2):c.2055G>A (p.Ser685=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3009727	NM_001792.5(CDH2):c.994A>G (p.Thr332Ala)	CDH2 (T332A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004285	NM_001792.5(CDH2):c.60+19G>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004163	NM_001792.5(CDH2):c.1703A>C (p.Asn568Thr)	CDH2 (N568T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001477	NM_001792.5(CDH2):c.30C>G (p.Thr10=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000850	NM_001792.5(CDH2):c.1678G>A (p.Asp560Asn)	CDH2 (D529N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000790	NM_001792.5(CDH2):c.2687A>G (p.Lys896Arg)	CDH2 (K865R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999006	NM_001792.5(CDH2):c.61-4G>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997461	NM_001792.5(CDH2):c.880G>A (p.Ala294Thr)	CDH2 (A294T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996726	NM_001792.5(CDH2):c.1598+18T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996528	NM_001792.5(CDH2):c.319C>G (p.Gln107Glu)	CDH2 (Q76E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996453	NM_001792.5(CDH2):c.1263A>T (p.Arg421Ser)	CDH2 (R421S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996133	NM_001792.5(CDH2):c.1987C>G (p.Gln663Glu)	CDH2 (Q663E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995320	NM_001792.5(CDH2):c.1272C>T (p.Gly424=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995000	NM_001792.5(CDH2):c.987C>T (p.Asp329=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993873	NM_001792.5(CDH2):c.767A>G (p.Asn256Ser)	CDH2 (N256S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993067	NM_001792.5(CDH2):c.1599-24_1599-20del	CDH2	Deletion (intron variant)	not provided	GLikely benign
Select item 2992867	NM_001792.5(CDH2):c.50C>T (p.Ala17Val)	CDH2 (A17V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992849	NM_001792.5(CDH2):c.172+18A>G	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992671	NM_001792.5(CDH2):c.846T>C (p.Pro282=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2991520	NM_001792.5(CDH2):c.411A>G (p.Glu137=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990192	NM_001792.5(CDH2):c.1694A>G (p.Asn565Ser)	CDH2 (N565S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989306	NM_001792.5(CDH2):c.1625A>G (p.Asn542Ser)	CDH2 (N542S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989224	NM_001792.5(CDH2):c.2350-5dup	CDH2	Duplication (intron variant)	not provided	GBenign
Select item 2987905	NM_001792.5(CDH2):c.251A>G (p.Asp84Gly)	CDH2 (D53G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987039	NM_001792.5(CDH2):c.1976-17T>G	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984968	NM_001792.5(CDH2):c.399+16A>G	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982370	NM_001792.5(CDH2):c.547-17del	CDH2	Deletion (intron variant)	not provided	GLikely benign
Select item 2978381	NM_001792.5(CDH2):c.580C>T (p.Arg194Trp)	CDH2 (R194W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976847	NM_001792.5(CDH2):c.2655T>C (p.Asp885=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975105	NM_001792.5(CDH2):c.852A>G (p.Thr284=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908370	NM_001792.5(CDH2):c.495A>G (p.Pro165=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907609	NM_001792.5(CDH2):c.372G>A (p.Lys124=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906284	NM_001792.5(CDH2):c.1839C>T (p.Cys613=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904428	NM_001792.5(CDH2):c.1967G>T (p.Arg656Leu)	CDH2 (R625L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902415	NM_001792.5(CDH2):c.2210-3T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2894738	NM_001792.5(CDH2):c.1809T>G (p.Pro603=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888576	NM_001792.5(CDH2):c.1903G>A (p.Gly635Arg)	CDH2 (G635R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883900	NM_001792.5(CDH2):c.2510A>T (p.Asn837Ile)	CDH2 (N806I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881709	NM_001792.5(CDH2):c.2515-18T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878752	NM_001792.5(CDH2):c.1308C>G (p.Asp436Glu)	CDH2 (D405E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878049	NM_001792.5(CDH2):c.2621A>C (p.Asn874Thr)	CDH2 (N874T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876238	NM_001792.5(CDH2):c.132C>T (p.Val44=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874461	NM_001792.5(CDH2):c.1044A>T (p.Ile348=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872920	NM_001792.5(CDH2):c.1447A>G (p.Thr483Ala)	CDH2 (T483A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867521	NM_001792.5(CDH2):c.1348A>T (p.Ile450Phe)	CDH2 (I419F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865563	NM_001792.5(CDH2):c.41T>C (p.Leu14Pro)	CDH2 (L14P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862142	NM_001792.5(CDH2):c.2594C>G (p.Ser865Cys)	CDH2 (S834C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860263	NM_001792.5(CDH2):c.2157G>A (p.Gly719=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857530	NM_001792.5(CDH2):c.798G>C (p.Glu266Asp)	CDH2 (E235D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855816	NM_001792.5(CDH2):c.1127A>G (p.Asn376Ser)	CDH2 (N345S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854612	NM_001792.5(CDH2):c.2528C>T (p.Ala843Val)	CDH2 (A812V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849731	NM_001792.5(CDH2):c.145G>A (p.Val49Met)	CDH2 (V49M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2847448	NM_001792.5(CDH2):c.1599-16C>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847427	NM_001792.5(CDH2):c.952C>T (p.Pro318Ser)	CDH2 (P287S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845360	NM_001792.5(CDH2):c.2350-18_2350-15dup	CDH2	Duplication (intron variant)	not provided	GLikely benign
Select item 2843555	NM_001792.5(CDH2):c.848-20T>G	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843511	NM_001792.5(CDH2):c.954C>T (p.Pro318=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841807	NM_001792.5(CDH2):c.1020+20T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828670	NM_001792.5(CDH2):c.1095A>T (p.Thr365=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825948	NM_001792.5(CDH2):c.547-8A>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824111	NM_001792.5(CDH2):c.1496C>G (p.Pro499Arg)	CDH2 (P499R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821690	NM_001792.5(CDH2):c.1408T>A (p.Leu470Ile)	CDH2 (L470I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820932	NM_001792.5(CDH2):c.172+6A>G	CDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2820342	NM_001792.5(CDH2):c.73G>A (p.Ala25Thr)	CDH2 (A25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819731	NM_001792.5(CDH2):c.492T>A (p.Pro164=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814826	NM_001792.5(CDH2):c.2241A>T (p.Lys747Asn)	CDH2 (K716N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810975	NM_001792.5(CDH2):c.694C>T (p.Arg232Trp)	CDH2 (R201W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807489	NM_001792.5(CDH2):c.438A>G (p.Gln146=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805855	NM_001792.5(CDH2):c.2553A>G (p.Pro851=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804515	NM_001792.5(CDH2):c.1027C>G (p.Gln343Glu)	CDH2 (Q343E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802761	NM_001792.5(CDH2):c.2707G>A (p.Gly903Arg)	CDH2 (G872R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800632	NM_001792.5(CDH2):c.2439C>G (p.Pro813=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793585	NM_001792.5(CDH2):c.2137G>A (p.Asp713Asn)	CDH2 (D713N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792557	NM_001792.5(CDH2):c.173-20C>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792487	NM_001792.5(CDH2):c.172+11A>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790677	NM_001792.5(CDH2):c.1020+17C>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790390	NM_001792.5(CDH2):c.2697C>T (p.Asp899=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788826	NM_001792.5(CDH2):c.546+3A>G	CDH2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2779360	NM_001792.5(CDH2):c.546+9G>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777675	NM_001792.5(CDH2):c.613C>T (p.Pro205Ser)	CDH2 (P205S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770948	NM_001792.5(CDH2):c.1975+11G>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769770	NM_001792.5(CDH2):c.2635G>A (p.Gly879Ser)	CDH2 (G848S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767902	NM_001792.5(CDH2):c.2210-1G>T	CDH2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2767039	NM_001792.5(CDH2):c.1986T>C (p.Ala662=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766754	NM_001792.5(CDH2):c.333C>A (p.Thr111=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766070	NM_001792.5(CDH2):c.1806C>T (p.Ala602=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763857	NM_001792.5(CDH2):c.998T>G (p.Val333Gly)	CDH2 (V302G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2757917	NM_001792.5(CDH2):c.944C>G (p.Thr315Ser)	CDH2 (T315S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755108	NM_001792.5(CDH2):c.2515-15G>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755106	NM_001792.5(CDH2):c.2515-13T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751344	NM_001792.5(CDH2):c.177_178dup (p.Phe60fs)	CDH2 (F29fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance

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