ClinVar for Gene (Select 6760) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3449667	NM_001007559.3(SS18):c.836G>C (p.Gly279Ala)	SS18 (G279A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3391936	GRCh37/hg19 18q11.2-12.1(chr18:21553578-32172480)x1	AQP4, ASXL3 +31 more	Copy number loss	not provided	GPathogenic
Select item 3391862	GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3	ACAA2, ADNP2 +195 more	Copy number gain	not provided	GPathogenic
Select item 3384215	Single allele	LOC110121416, OSBPL1A +439 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 3322770	NM_001007559.3(SS18):c.925G>A (p.Gly309Ser)	SS18 (G309S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322769	NM_001007559.3(SS18):c.325A>C (p.Met109Leu)	SS18 (M109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322768	NM_001007559.3(SS18):c.559A>G (p.Met187Val)	SS18 (M187V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322767	NM_001007559.3(SS18):c.809A>G (p.Tyr270Cys)	SS18 (Y247C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170288	NM_001007559.3(SS18):c.1070G>A (p.Gly357Asp)	SS18 (G334D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063549	GRCh37/hg19 18q11.2(chr18:23648402-24053824)x3	KCTD1, PSMA8 +2 more	Copy number gain	not specified	GUncertain significance
Select item 2621697	NM_001007559.3(SS18):c.836G>A (p.Gly279Glu)	SS18 (G279E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596412	NM_001007559.3(SS18):c.56C>T (p.Ala19Val)	SS18 (A19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588064	NM_001007559.3(SS18):c.613A>G (p.Met205Val)	SS18 (M205V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535922	NM_001007559.3(SS18):c.649A>G (p.Met217Val)	SS18 (M217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531249	NM_001007559.3(SS18):c.847C>T (p.Pro283Ser)	SS18 (P260S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513796	NM_001007559.3(SS18):c.696G>A (p.Met232Ile)	SS18 (M209I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494363	NM_001007559.3(SS18):c.1174C>T (p.Pro392Ser)	SS18 (P369S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460001	NM_001007559.3(SS18):c.588G>A (p.Met196Ile)	SS18 (M173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364937	NM_001007559.3(SS18):c.86A>G (p.Asn29Ser)	SS18 (N29S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301467	NM_001007559.3(SS18):c.694A>G (p.Met232Val)	SS18 (M209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294756	NM_001007559.3(SS18):c.594G>T (p.Met198Ile)	SS18 (M175I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282424	NM_001007559.3(SS18):c.238A>T (p.Thr80Ser)	SS18 (T57S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271387	NM_001007559.3(SS18):c.1097G>C (p.Gly366Ala)	SS18 (G366A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257880	NM_001007559.3(SS18):c.877G>A (p.Asp293Asn)	SS18 (D270N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1341053	GRCh37/hg19 18q11.2-12.1(chr18:23050629-26026370)x3	AQP4, CDH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1331678	NM_001007559.3(SS18):c.1051C>T (p.Gln351Ter)	SS18 (Q320* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 979688	GRCh37/hg19 18q11.2-12.1(chr18:23586307-25193192)x1	KCTD1, TAF4B +4 more	Copy number loss	not provided	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 815998	GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1	AQP4, ASXL3 +40 more	Copy number loss	not provided	GPathogenic
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
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 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 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 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 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 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 60206	GRCh38/hg38 18q11.2(chr18:24411993-26628123)x3	LINC01894, LINC01915 +57 more	Copy number gain	See cases	GUncertain significance
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 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	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 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61