ZSCAN30[gene] - ClinVar

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Items: 71

	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 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 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 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 59958	GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1	ASXL3, C18orf21 +129 more	Copy number loss	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 149244	GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1	ASXL3, C18orf21 +84 more	Copy number loss	See cases	GLikely pathogenic
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 154809	GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3	DTNA, GALNT1 +38 more	Copy number gain	See cases	GUncertain significance
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 2306532	NM_001112734.4(ZSCAN30):c.1385T>A (p.Ile462Asn)	ZNF397, ZSCAN30 (I275N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550206	NM_001112734.4(ZSCAN30):c.1367T>G (p.Leu456Arg)	ZNF397, ZSCAN30 (L456R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199437	NM_001112734.4(ZSCAN30):c.1356G>C (p.Gln452His)	ZNF397, ZSCAN30 (Q265H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620899	NM_001112734.4(ZSCAN30):c.1343A>T (p.Lys448Ile)	ZNF397, ZSCAN30 (K261I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382575	NM_001112734.4(ZSCAN30):c.1301T>C (p.Ile434Thr)	ZNF397, ZSCAN30 (I434T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522711	NM_001112734.4(ZSCAN30):c.1268G>A (p.Gly423Asp)	ZNF397, ZSCAN30 (G236D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199436	NM_001112734.4(ZSCAN30):c.1264T>G (p.Phe422Val)	ZNF397, ZSCAN30 (F235V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199435	NM_001112734.4(ZSCAN30):c.1238A>G (p.Tyr413Cys)	ZNF397, ZSCAN30 (Y226C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310827	NM_001112734.4(ZSCAN30):c.1187G>A (p.Arg396Gln)	ZNF397, ZSCAN30 (R396Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400016	NM_001112734.4(ZSCAN30):c.1127G>A (p.Arg376Gln)	ZNF397, ZSCAN30 (R376Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199434	NM_001112734.4(ZSCAN30):c.1069T>G (p.Tyr357Asp)	ZNF397, ZSCAN30 (Y357D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275150	NM_001112734.4(ZSCAN30):c.1030C>T (p.Leu344Phe)	ZNF397, ZSCAN30 (L157F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512212	NM_001112734.4(ZSCAN30):c.935A>G (p.Gln312Arg)	ZNF397, ZSCAN30 (Q125R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520243	NM_001112734.4(ZSCAN30):c.869C>G (p.Thr290Arg)	ZNF397, ZSCAN30 (T103R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269076	NM_001112734.4(ZSCAN30):c.842G>T (p.Ser281Ile)	ZNF397, ZSCAN30 (S94I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260078	NM_001112734.4(ZSCAN30):c.832A>T (p.Ser278Cys)	ZNF397, ZSCAN30 (S278C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223596	NM_001112734.4(ZSCAN30):c.625A>G (p.Met209Val)	ZNF397, ZSCAN30 (M209V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376060	NM_001112734.4(ZSCAN30):c.564G>T (p.Met188Ile)	ZNF397, ZSCAN30 (M1I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3260080	NM_001112734.4(ZSCAN30):c.488C>T (p.Pro163Leu)	ZSCAN30 (P163L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260079	NM_001112734.4(ZSCAN30):c.416C>T (p.Thr139Ile)	ZSCAN30 (T139I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345489	NM_001112734.4(ZSCAN30):c.365T>C (p.Met122Thr)	ZSCAN30 (M122T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199440	NM_001112734.4(ZSCAN30):c.335G>A (p.Arg112Gln)	ZSCAN30 (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2359492	NM_001112734.4(ZSCAN30):c.333T>G (p.His111Gln)	ZSCAN30 (H111Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357683	NM_001112734.4(ZSCAN30):c.322C>G (p.Leu108Val)	ZSCAN30 (L108V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199439	NM_001112734.4(ZSCAN30):c.221G>A (p.Cys74Tyr)	ZSCAN30 (C74Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199438	NM_001112734.4(ZSCAN30):c.209G>A (p.Arg70Gln)	ZSCAN30 (R70Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476899	NM_001112734.4(ZSCAN30):c.154A>G (p.Arg52Gly)	ZSCAN30 (R52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392618	NM_001112734.4(ZSCAN30):c.143G>A (p.Arg48Gln)	ZSCAN30 (R48Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561325	NM_001112734.4(ZSCAN30):c.76G>A (p.Glu26Lys)	ZSCAN30 (E26K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535151	NM_001112734.4(ZSCAN30):c.61G>A (p.Val21Ile)	ZSCAN30 (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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

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Items: 71