1000[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 1286608	NM_001792.5(CDH2):c.*37C>T	CDH2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3051291	NM_001792.5(CDH2):c.*8G>C	CDH2	Single nucleotide variant (3 prime UTR variant)	CDH2-related disorder	GLikely benign
Select item 2695759	NM_001792.5(CDH2):c.2716dup (p.Asp906fs)	CDH2 (D875fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2580599	NM_001792.5(CDH2):c.2713G>A (p.Asp905Asn)	CDH2 (D874N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1795091	NM_001792.5(CDH2):c.2712T>C (p.Gly904=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
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 2790390	NM_001792.5(CDH2):c.2697C>T (p.Asp899=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1670691	NM_001792.5(CDH2):c.2679G>T (p.Arg893=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509836	NM_001792.5(CDH2):c.2678G>A (p.Arg893Gln)	CDH2 (R893Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132734	NM_001792.5(CDH2):c.2674C>T (p.Pro892Ser)	CDH2 (P861S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1626714	NM_001792.5(CDH2):c.2673G>C (p.Gly891=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551185	NM_001792.5(CDH2):c.2673G>A (p.Gly891=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3221793	NM_001792.5(CDH2):c.2671G>T (p.Gly891Trp)	CDH2 (G860W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1704788	NM_001792.5(CDH2):c.2669G>T (p.Trp890Leu)	CDH2 (W859L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427862	NM_001792.5(CDH2):c.2665G>A (p.Asp889Asn)	CDH2 (D858N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2049346	NM_001792.5(CDH2):c.2664C>A (p.Asn888Lys)	CDH2 (N857K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1591623	NM_001792.5(CDH2):c.2664C>T (p.Asn888=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1626715	NM_001792.5(CDH2):c.2661G>A (p.Leu887=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976847	NM_001792.5(CDH2):c.2655T>C (p.Asp885=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1794265	NM_001792.5(CDH2):c.2647G>A (p.Asp883Asn)	CDH2 (D852N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2565600	NM_001792.5(CDH2):c.2641G>A (p.Glu881Lys)	CDH2 (E850K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1925282	NM_001792.5(CDH2):c.2639G>C (p.Gly880Ala)	CDH2 (G880A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2446921	NM_001792.5(CDH2):c.2630G>A (p.Ser877Asn)	CDH2 (S846N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2148484	NM_001792.5(CDH2):c.2630G>C (p.Ser877Thr)	CDH2 (S877T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 1793872	NM_001792.5(CDH2):c.2617C>G (p.Leu873Val)	CDH2 (L873V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1532888	NM_001792.5(CDH2):c.2616C>T (p.Ser872=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547177	NM_001792.5(CDH2):c.2615C>G (p.Ser872Cys)	CDH2 (S841C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1949462	NM_001792.5(CDH2):c.2605T>C (p.Ser869Pro)	CDH2 (S869P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920148	NM_001792.5(CDH2):c.2603G>A (p.Gly868Glu)	CDH2 (G837E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2184977	NM_001792.5(CDH2):c.2598T>G (p.Thr866=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2450996	NM_001792.5(CDH2):c.2597C>A (p.Thr866Asn)	CDH2 (T866N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1966867	NM_001792.5(CDH2):c.2592C>T (p.Gly864=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1950095	NM_001792.5(CDH2):c.2591G>A (p.Gly864Asp)	CDH2 (G833D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3221792	NM_001792.5(CDH2):c.2587A>T (p.Ser863Cys)	CDH2 (S832C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 805765	NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)	CDH2 (L825fs +1 more)	Duplication (frameshift variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more	GPathogenic/Likely pathogenic
Select item 805764	NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)	CDH2 (L824fs +1 more)	Deletion (frameshift variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more	GPathogenic/Likely pathogenic
Select item 1793132	NM_001792.5(CDH2):c.2562C>T (p.Ser854=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1793003	NM_001792.5(CDH2):c.2555A>G (p.Tyr852Cys)	CDH2 (Y852C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2805855	NM_001792.5(CDH2):c.2553A>G (p.Pro851=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2565604	NM_001792.5(CDH2):c.2549C>T (p.Pro850Leu)	CDH2 (P819L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2120104	NM_001792.5(CDH2):c.2548C>T (p.Pro850Ser)	CDH2 (P819S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940814	NM_001792.5(CDH2):c.2547T>G (p.Ala849=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1566047	NM_001792.5(CDH2):c.2534A>G (p.Asn845Ser)	CDH2 (N814S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1563508	NM_001792.5(CDH2):c.2526G>T (p.Ala842=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1551082	NM_001792.5(CDH2):c.2526G>A (p.Ala842=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1792586	NM_001792.5(CDH2):c.2525C>T (p.Ala842Val)	CDH2 (A811V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2451005	NM_001792.5(CDH2):c.2524G>A (p.Ala842Thr)	CDH2 (A811T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2163802	NM_001792.5(CDH2):c.2515-9A>C	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 2755108	NM_001792.5(CDH2):c.2515-15G>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881709	NM_001792.5(CDH2):c.2515-18T>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283887	NM_001792.5(CDH2):c.2514+181G>T	CDH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1931532	NM_001792.5(CDH2):c.2514+17G>A	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1640805	NM_001792.5(CDH2):c.2514+16C>T	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629087	NM_001792.5(CDH2):c.2514+13A>C	CDH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922607	NM_001792.5(CDH2):c.2511T>C (p.Asn837=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
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 1792304	NM_001792.5(CDH2):c.2505C>G (p.Phe835Leu)	CDH2 (F804L +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +2 more	GUncertain significance
Select item 2586031	NM_001792.5(CDH2):c.2499G>A (p.Gly833=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1374038	NM_001792.5(CDH2):c.2498G>A (p.Gly833Glu)	CDH2 (G833E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2565599	NM_001792.5(CDH2):c.2497G>C (p.Gly833Arg)	CDH2 (G802R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141184	NM_001792.5(CDH2):c.2495T>C (p.Ile832Thr)	CDH2 (I801T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899166	NM_001792.5(CDH2):c.2493C>T (p.Asp831=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1921223	NM_001792.5(CDH2):c.2489G>A (p.Gly830Glu)	CDH2 (G799E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1791989	NM_001792.5(CDH2):c.2486C>T (p.Pro829Leu)	CDH2 (P798L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1791988	NM_001792.5(CDH2):c.2486C>G (p.Pro829Arg)	CDH2 (P798R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2451013	NM_001792.5(CDH2):c.2483A>G (p.His828Arg)	CDH2 (H797R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1663968	NM_001792.5(CDH2):c.2478C>T (p.Ala826=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1683877	NM_001792.5(CDH2):c.2476G>C (p.Ala826Pro)	CDH2 (A795P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1421805	NM_001792.5(CDH2):c.2468G>A (p.Arg823Gln)	CDH2 (R792Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1383803	NM_001792.5(CDH2):c.2467C>T (p.Arg823Ter)	CDH2 (R792* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1945138	NM_001792.5(CDH2):c.2465T>C (p.Val822Ala)	CDH2 (V822A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1791664	NM_001792.5(CDH2):c.2463G>A (p.Pro821=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1791651	NM_001792.5(CDH2):c.2462C>T (p.Pro821Leu)	CDH2 (P821L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1791522	NM_001792.5(CDH2):c.2453C>T (p.Pro818Leu)	CDH2 (P787L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1791441	NM_001792.5(CDH2):c.2449G>A (p.Glu817Lys)	CDH2 (E817K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1617994	NM_001792.5(CDH2):c.2448C>G (p.Ala816=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1253751	NM_001792.5(CDH2):c.2448C>T (p.Ala816=)	CDH2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1494599	NM_001792.5(CDH2):c.2446G>A (p.Ala816Thr)	CDH2 (A816T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900509	NM_001792.5(CDH2):c.2445C>A (p.His815Gln)	CDH2 (H784Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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