GLT1D1[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	AACS, ABCB9 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	LOC130009168, LOC130009169 +408 more	Copy number gain	See cases	GPathogenic
Select item 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
Select item 147998	GRCh38/hg38 12q24.32-24.33(chr12:127900499-129778294)x3	GLT1D1, LINC00507 +43 more	Copy number gain	See cases	GUncertain significance
Select item 151149	GRCh38/hg38 12q24.32-24.33(chr12:128487318-129325819)x3	GLT1D1, LOC100128276 +30 more	Copy number gain	See cases	GUncertain significance
Select item 150016	GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4	GLT1D1, LOC100128276 +28 more	Copy number gain	See cases	GUncertain significance
Select item 2643587	NC_000012.12:g.128844717_128844771del	GLT1D1	Deletion	not provided	GLikely benign
Select item 2643588	NC_000012.12:g.128846366A>C	GLT1D1	Single nucleotide variant	not provided	GLikely benign
Select item 2220212	NM_001366886.1(GLT1D1):c.88G>T (p.Gly30Trp)	GLT1D1 (G30W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240197	NM_001366886.1(GLT1D1):c.99C>G (p.Cys33Trp)	GLT1D1 (C33W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100355	NM_001366886.1(GLT1D1):c.100G>A (p.Val34Ile)	GLT1D1 (V34I)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2336473	NM_001366886.1(GLT1D1):c.107A>T (p.Lys36Met)	GLT1D1 (K36M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472571	NM_001366886.1(GLT1D1):c.208C>T (p.Leu70Phe)	GLT1D1 (L70F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611164	NM_001366886.1(GLT1D1):c.224G>A (p.Arg75Gln)	GLT1D1 (R33Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474759	NM_001366886.1(GLT1D1):c.322A>G (p.Arg108Gly)	GLT1D1 (R66G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373287	NM_001366886.1(GLT1D1):c.368C>T (p.Ala123Val)	GLT1D1 (A81V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492903	NM_001366886.1(GLT1D1):c.617T>C (p.Val206Ala)	GLT1D1 (V126A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372356	NM_001366886.1(GLT1D1):c.712G>A (p.Val238Met)	GLT1D1 (V102M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589930	NM_001366886.1(GLT1D1):c.758G>T (p.Gly253Val)	GLT1D1 (G253V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100357	NM_001366886.1(GLT1D1):c.800C>T (p.Pro267Leu)	GLT1D1, LOC126861685 (P187L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399131	NM_001366886.1(GLT1D1):c.805T>A (p.Leu269Met)	GLT1D1, LOC126861685 (L133M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100358	NM_001366886.1(GLT1D1):c.835G>C (p.Val279Leu)	GLT1D1, LOC126861685 (V143L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603064	NM_001366886.1(GLT1D1):c.835G>A (p.Val279Met)	GLT1D1, LOC126861685 (V279M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100359	NM_001366886.1(GLT1D1):c.854C>A (p.Thr285Lys)	GLT1D1, LOC126861685 (T205K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714575	NM_001366886.1(GLT1D1):c.936C>T (p.Ile312=)	GLT1D1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2380649	NM_001366886.1(GLT1D1):c.937G>A (p.Val313Ile)	GLT1D1 (V177I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353989	NM_001366886.1(GLT1D1):c.991G>C (p.Asp331His)	GLT1D1 (D331H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 980999	GRCh37/hg19 12q24.33(chr12:129327106-129548354)x3	GLT1D1	Copy number gain	not provided	GLikely benign
Select item 816505	GRCh37/hg19 12q24.32-24.33(chr12:129014884-129818338)x3	SLC15A4, TMEM132D +2 more	Copy number gain	See cases	GUncertain significance
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 687269	GRCh37/hg19 12q24.32-24.33(chr12:128503810-130456374)x1	GLT1D1, SLC15A4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 685715	GRCh37/hg19 12q24.32-24.33(chr12:129299049-129628826)x3	GLT1D1, SLC15A4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 585226	GRCh37/hg19 12q24.32-24.33(chr12:129156032-129684048)x3	GLT1D1, SLC15A4 +2 more	Copy number gain	not provided	Gnot provided
Select item 563971	GRCh37/hg19 12q24.33(chr12:129434551-130604929)x3	TMEM132D, GLT1D1	Copy number gain	not provided	GUncertain significance
Select item 563948	GRCh37/hg19 12q24.33(chr12:129455332-129936765)x3	TMEM132D, GLT1D1	Copy number gain	not provided	GUncertain significance
Select item 560129	Single allele	GLT1D1, SLC15A4 +2 more	Deletion	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395520	GRCh37/hg19 12q24.33(chr12:129355983-129535986)x3	GLT1D1	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 50