ClinVar for Gene (Select 100507064) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2643712	NM_032849.4(MEDAG):c.396G>A (p.Thr132=)	MEDAG, TEX26-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2602840	NM_032849.4(MEDAG):c.244G>A (p.Gly82Arg)	MEDAG, TEX26-AS1 (G82R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569955	NM_032849.4(MEDAG):c.577G>T (p.Ala193Ser)	MEDAG, TEX26-AS1 (A193S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515072	NM_032849.4(MEDAG):c.233T>A (p.Val78Glu)	MEDAG, TEX26-AS1 (V78E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385503	NM_032849.4(MEDAG):c.73C>A (p.Leu25Met)	TEX26-AS1, MEDAG (L25M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370667	NM_032849.4(MEDAG):c.750C>A (p.Ser250Arg)	MEDAG, TEX26-AS1 (S250R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292450	NM_032849.4(MEDAG):c.413A>T (p.Asn138Ile)	TEX26-AS1, MEDAG (N138I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257539	NM_032849.4(MEDAG):c.479T>C (p.Ile160Thr)	TEX26-AS1, MEDAG (I160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226170	NM_032849.4(MEDAG):c.650T>C (p.Val217Ala)	MEDAG, TEX26-AS1 (V217A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223503	NM_032849.4(MEDAG):c.733C>G (p.Pro245Ala)	MEDAG, TEX26-AS1 (P245A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1338830	GRCh38/hg38 13q12.3(chr13:30194283-31591879)	ALOX5AP, B3GLCT +50 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 154802	GRCh38/hg38 13q12.3-13.3(chr13:29321454-36995348)x3	ALG5, ALOX5AP +210 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	LOC126861732, LOC126861733 +213 more	Copy number loss	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 148858	GRCh38/hg38 13q12.3-13.3(chr13:29073320-36556014)x1	ALOX5AP, B3GLCT +202 more	Copy number loss	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	RBM26-AS1, RCBTB1 +1004 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009757, LOC130009758 +780 more	Copy number loss	See cases	GPathogenic
Select item 57637	GRCh38/hg38 13q12.3-13.1(chr13:29654134-32858245)x1	ALOX5AP, B3GLCT +117 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 32