GLT8D2[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 149859	GRCh38/hg38 12q23.3(chr12:103500125-104726872)x1	C12orf42, CHST11 +115 more	Copy number loss	See cases	GUncertain significance
Select item 2289848	NM_001384711.1(GLT8D2):c.905C>T (p.Ser302Leu)	GLT8D2 (S307L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558446	NM_001384711.1(GLT8D2):c.857C>G (p.Pro286Arg)	GLT8D2 (P286R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689671	NM_001384711.1(GLT8D2):c.785G>C (p.Ser262Thr)	GLT8D2 (S262T +1 more)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 2214929	NM_001384711.1(GLT8D2):c.768G>C (p.Glu256Asp)	GLT8D2 (E256D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588107	NM_001384711.1(GLT8D2):c.752T>C (p.Met251Thr)	GLT8D2 (M256T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100376	NM_001384711.1(GLT8D2):c.742G>A (p.Glu248Lys)	GLT8D2 (E248K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100375	NM_001384711.1(GLT8D2):c.633G>C (p.Lys211Asn)	GLT8D2 (K211N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304404	NM_001384711.1(GLT8D2):c.632A>G (p.Lys211Arg)	GLT8D2 (K216R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267058	NM_001384711.1(GLT8D2):c.631A>G (p.Lys211Glu)	GLT8D2 (K211E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100374	NM_001384711.1(GLT8D2):c.628C>T (p.Arg210Trp)	GLT8D2 (R210W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100373	NM_001384711.1(GLT8D2):c.605C>T (p.Thr202Ile)	GLT8D2 (T207I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521294	NM_001384711.1(GLT8D2):c.512C>A (p.Thr171Asn)	GLT8D2 (T171N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362357	NM_001384711.1(GLT8D2):c.480T>G (p.Ile160Met)	GLT8D2 (I160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248148	NM_001384711.1(GLT8D2):c.437T>C (p.Ile146Thr)	GLT8D2 (I146T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410948	NM_001384711.1(GLT8D2):c.399G>C (p.Gln133His)	GLT8D2 (Q133H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100371	NM_001384711.1(GLT8D2):c.263G>A (p.Arg88Gln)	GLT8D2 (R93Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291430	NM_001384711.1(GLT8D2):c.194C>G (p.Thr65Ser)	GLT8D2 (T65S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490779	NM_001384711.1(GLT8D2):c.158T>C (p.Val53Ala)	GLT8D2 (V53A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343149	NM_001384711.1(GLT8D2):c.65T>C (p.Ile22Thr)	GLT8D2 (I22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685453	GRCh37/hg19 12q23.3(chr12:104255219-104417352)x1	GLT8D2, HSP90B1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808032	GRCh37/hg19 12q23.2-23.3(chr12:103588380-105161579)x3	C12orf42, CHST11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 685970	GRCh37/hg19 12q23.2-23.3(chr12:102414522-105845768)x1	TXNRD1, UQCC6 +23 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
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: 31