1760[HGNC] - 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	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 145554	GRCh38/hg38 18q21.32-21.33(chr18:60667028-61668269)x1	CDH20, LOC126862768 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1703234	Single allele	LOC126862831, LOC130062709 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 3141191	NM_031891.4(CDH20):c.86C>T (p.Thr29Met)	CDH20 (T29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265239	NM_031891.4(CDH20):c.101C>T (p.Ser34Leu)	CDH20 (S34L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710667	NM_031891.4(CDH20):c.117A>G (p.Pro39=)	CDH20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141186	NM_031891.4(CDH20):c.155A>G (p.Gln52Arg)	CDH20 (Q52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552788	NM_031891.4(CDH20):c.217A>G (p.Thr73Ala)	CDH20 (T73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220179	NM_031891.4(CDH20):c.228C>A (p.Asp76Glu)	CDH20 (D76E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648771	NM_031891.4(CDH20):c.327C>T (p.Ile109=)	CDH20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2347718	NM_031891.4(CDH20):c.364C>A (p.Leu122Ile)	CDH20 (L122I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599160	NM_031891.4(CDH20):c.422C>T (p.Thr141Met)	CDH20 (T141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141189	NM_031891.4(CDH20):c.424G>A (p.Gly142Ser)	CDH20 (G142S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256322	NM_031891.4(CDH20):c.665T>C (p.Val222Ala)	CDH20 (V222A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141190	NM_031891.4(CDH20):c.671G>A (p.Arg224Lys)	CDH20 (R224K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265235	NM_031891.4(CDH20):c.818G>A (p.Arg273His)	CDH20 (R273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265240	NM_031891.4(CDH20):c.846T>G (p.Ser282Arg)	CDH20 (S282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370233	NM_031891.4(CDH20):c.877G>A (p.Val293Ile)	CDH20 (V293I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648772	NM_031891.4(CDH20):c.879C>T (p.Val293=)	CDH20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328499	NM_031891.4(CDH20):c.884G>C (p.Arg295Thr)	CDH20 (R295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648773	NM_031891.4(CDH20):c.951T>C (p.Asp317=)	CDH20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239827	NM_031891.4(CDH20):c.1124C>T (p.Thr375Ile)	CDH20 (T375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295234	NM_031891.4(CDH20):c.1191G>C (p.Glu397Asp)	CDH20 (E397D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141185	NM_031891.4(CDH20):c.1208C>T (p.Ala403Val)	CDH20 (A403V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265242	NM_031891.4(CDH20):c.1214G>C (p.Gly405Ala)	CDH20 (G405A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265244	NM_031891.4(CDH20):c.1318G>A (p.Asp440Asn)	CDH20 (D440N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265236	NM_031891.4(CDH20):c.1516G>A (p.Ala506Thr)	CDH20 (A506T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225844	NM_031891.4(CDH20):c.1573A>G (p.Asn525Asp)	CDH20 (N525D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514371	NM_031891.4(CDH20):c.1688G>A (p.Arg563Gln)	CDH20 (R563Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141187	NM_031891.4(CDH20):c.1801G>A (p.Gly601Ser)	CDH20 (G601S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315819	NM_031891.4(CDH20):c.1867A>C (p.Ile623Leu)	CDH20 (I623L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240427	NM_031891.4(CDH20):c.1879G>A (p.Ala627Thr)	CDH20 (A627T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265237	NM_031891.4(CDH20):c.1943A>C (p.Gln648Pro)	CDH20 (Q648P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365179	NM_031891.4(CDH20):c.1973T>C (p.Ile658Thr)	CDH20 (I658T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1713130	NM_031891.4(CDH20):c.2059C>T (p.Arg687Trp)	CDH20 (R687W)	Single nucleotide variant (missense variant)	Non-syndromic syndactyly	GUncertain significance
Select item 2219366	NM_031891.4(CDH20):c.2093G>T (p.Arg698Leu)	CDH20 (R698L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541044	NM_031891.4(CDH20):c.2098G>A (p.Asp700Asn)	CDH20 (D700N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224638	NM_031891.4(CDH20):c.2143A>C (p.Thr715Pro)	CDH20 (T715P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141188	NM_031891.4(CDH20):c.2186A>G (p.Lys729Arg)	CDH20 (K729R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265245	NM_031891.4(CDH20):c.2218C>T (p.Pro740Ser)	CDH20 (P740S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391360	NM_031891.4(CDH20):c.2226C>A (p.Phe742Leu)	CDH20 (F742L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265241	NM_031891.4(CDH20):c.2284T>G (p.Ser762Ala)	CDH20 (S762A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265238	NM_031891.4(CDH20):c.2292G>T (p.Gln764His)	CDH20 (Q764H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377866	NM_031891.4(CDH20):c.2293T>C (p.Ser765Pro)	CDH20 (S765P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610135	NM_031891.4(CDH20):c.2315A>G (p.Gln772Arg)	CDH20 (Q772R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361590	NM_031891.4(CDH20):c.2386G>A (p.Gly796Arg)	CDH20 (G796R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 3062371	GRCh37/hg19 18q21.32-22.3(chr18:58508272-70495604)x3	BCL2, CBLN2 +30 more	Copy number gain	not specified	GLikely pathogenic
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526628	GRCh37/hg19 18q21.32-23(chr18:58305972-78014123)	PHLPP1, PIGN +58 more	Copy number loss	not specified	GPathogenic
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	BOD1L2, C18orf63 +80 more	Copy number loss	not provided	GPathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 816052	GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1	ZNF236, CYB5A +66 more	Copy number loss	not provided	GPathogenic
Select item 816051	GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1	PHLPP1, MC4R +72 more	Copy number loss	not provided	GPathogenic
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 816022	GRCh37/hg19 18q21.33(chr18:59071708-59281636)x3	CDH20	Copy number gain	not provided	GUncertain significance
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 626290	Single allele	ADNP2, ATP9B +59 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564570	GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1	PMAIP1, GALR1 +72 more	Copy number loss	not provided	GPathogenic
Select item 564569	GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1	DIPK1C, SLC66A2 +64 more	Copy number loss	not provided	GPathogenic

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