ClinVar for Gene (Select 80323) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264267	NM_025214.3(CCDC68):c.112A>G (p.Lys38Glu)	CCDC68 (K38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139304	NM_025214.3(CCDC68):c.908C>G (p.Ser303Cys)	CCDC68 (S303C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139303	NM_025214.3(CCDC68):c.772C>T (p.Arg258Cys)	CCDC68 (R258C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139302	NM_025214.3(CCDC68):c.772C>A (p.Arg258Ser)	CCDC68 (R258S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139301	NM_025214.3(CCDC68):c.727A>C (p.Ile243Leu)	CCDC68 (I243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139300	NM_025214.3(CCDC68):c.715C>T (p.Leu239Phe)	CCDC68 (L239F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139299	NM_025214.3(CCDC68):c.623G>T (p.Arg208Ile)	CCDC68 (R208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139298	NM_025214.3(CCDC68):c.506A>T (p.Gln169Leu)	CCDC68 (Q169L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139297	NM_025214.3(CCDC68):c.490G>A (p.Glu164Lys)	CCDC68 (E164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139296	NM_025214.3(CCDC68):c.419C>T (p.Thr140Met)	CCDC68 (T140M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2684877	GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3	C18orf54, CCDC68 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2544487	NM_025214.3(CCDC68):c.52G>A (p.Asp18Asn)	CCDC68 (D18N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521017	NM_025214.3(CCDC68):c.355T>C (p.Ser119Pro)	CCDC68 (S119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407569	NM_025214.3(CCDC68):c.122G>A (p.Arg41Gln)	CCDC68 (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360259	NM_025214.3(CCDC68):c.37A>G (p.Arg13Gly)	CCDC68 (R13G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343138	NM_025214.3(CCDC68):c.77C>T (p.Thr26Met)	CCDC68 (T26M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281018	NM_025214.3(CCDC68):c.772C>G (p.Arg258Gly)	CCDC68 (R258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269342	NM_025214.3(CCDC68):c.217C>G (p.Leu73Val)	CCDC68 (L73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248048	NM_025214.3(CCDC68):c.103G>A (p.Glu35Lys)	CCDC68 (E35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244853	NM_025214.3(CCDC68):c.241A>T (p.Met81Leu)	CCDC68 (M81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807635	GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3	C18orf54, CCDC68 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1806473	GRCh37/hg19 18q21.2(chr18:52023322-53332606)x1	CCDC68, DYNAP +2 more	Copy number loss	Pitt-Hopkins syndrome	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	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 1526619	GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248)	BOD1L2, C18orf54 +12 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 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	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 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	PARD6G, PHLPP1 +85 more	Copy number gain	Global developmental delay	GPathogenic
Select item 816501	GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3	DYNAP, C18orf54 +5 more	Copy number gain	See cases	GUncertain significance
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 812695	NM_025214.3(CCDC68):c.775dup (p.Ser259fs)	CCDC68 (S259fs)	Duplication (frameshift variant)	Recurrent spontaneous abortion	GLikely pathogenic
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 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 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 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 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 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 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 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 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 148226	GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1	CCDC68, DYNAP +33 more	Copy number loss	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 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	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 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 146327	GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3	CCDC68, LINC01929 +18 more	Copy number gain	See cases	GUncertain significance
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	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 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	C18orf54, CCDC68 +62 more	Copy number loss	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 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 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 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 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 57286	GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	C18orf54, CCDC68 +33 more	Copy number loss	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

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Links from Gene

Items: 79