ClinVar for Gene (Select 252884) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3384215	Single allele	LOC110121416, OSBPL1A +439 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 3335639	NM_001322286.2(ZNF396):c.88G>A (p.Glu30Lys)	ZNF396 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335638	NM_001322286.2(ZNF396):c.633T>G (p.His211Gln)	ZNF396 (H211Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195517	NM_001322286.2(ZNF396):c.893G>A (p.Arg298Gln)	ZNF396 (R298Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195515	NM_001322286.2(ZNF396):c.763G>A (p.Glu255Lys)	ZNF396 (E255K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685618	GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1	ASXL3, B4GALT6 +35 more	Copy number loss	not provided	GPathogenic
Select item 2623433	NM_001322286.2(ZNF396):c.437A>G (p.Lys146Arg)	ZNF396 (K146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599430	NM_001322286.2(ZNF396):c.431G>A (p.Arg144Gln)	ZNF396 (R144Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508265	NM_001322286.2(ZNF396):c.212G>A (p.Ser71Asn)	ZNF396 (S71N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489346	NM_001322286.2(ZNF396):c.122A>C (p.His41Pro)	ZNF396 (H41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480616	NM_001322286.2(ZNF396):c.623T>C (p.Ile208Thr)	ZNF396 (I208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470495	NM_001322286.2(ZNF396):c.214C>T (p.Arg72Trp)	ZNF396 (R72W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398042	NM_001322286.2(ZNF396):c.602G>C (p.Arg201Thr)	ZNF396 (R201T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392494	NM_001322286.2(ZNF396):c.175G>A (p.Gly59Ser)	ZNF396 (G59S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318001	NM_001322286.2(ZNF396):c.49G>A (p.Glu17Lys)	ZNF396 (E17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312867	NM_001322286.2(ZNF396):c.856A>G (p.Lys286Glu)	ZNF396 (K286E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308650	NM_001322286.2(ZNF396):c.427G>A (p.Gly143Arg)	ZNF396 (G143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299289	NM_001322286.2(ZNF396):c.853G>T (p.Ala285Ser)	ZNF396 (A285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250566	NM_001322286.2(ZNF396):c.691A>C (p.Thr231Pro)	ZNF396 (T231P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224200	NM_001322286.2(ZNF396):c.887A>G (p.Gln296Arg)	ZNF396 (Q296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217658	NM_001322286.2(ZNF396):c.38C>T (p.Thr13Ile)	ZNF396 (T13I)	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 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 983154	GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1	AQP4, ASXL3 +35 more	Copy number loss	See cases	GPathogenic
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 788614	NM_001322286.2(ZNF396):c.747dup (p.Gln250fs)	ZNF396 (Q250fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 564554	GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1	ASXL3, C18orf21 +22 more	Copy number loss	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 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 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 443054	GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3	ARK2C, ARK2N +62 more	Copy number gain	See cases	GLikely benign
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 442113	GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1	ASXL3, C18orf21 +19 more	Copy number loss	See cases	GLikely pathogenic
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 154809	GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3	DTNA, GALNT1 +38 more	Copy number gain	See cases	GUncertain significance
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 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 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 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 59959	GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1	LOC110120900, LOC110120940 +99 more	Copy number loss	See cases	GPathogenic
Select item 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	See cases	GPathogenic
Select item 58779	GRCh38/hg38 18q12.1-12.2(chr18:35097761-39379288)x3	C18orf21, CELF4 +75 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 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 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 57135	GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3	ASXL3, B4GALT6 +146 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

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Links from Gene

Items: 62