3403[HGNC] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +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 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	AACS, ADGRD1 +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 148074	GRCh38/hg38 12q24.33(chr12:130246043-130806970)x3	LOC121838570, LOC124849284 +16 more	Copy number gain	See cases	GUncertain significance
Select item 57075	GRCh38/hg38 12q24.33(chr12:130648435-130806970)x3	LOC121838570, LOC124849284 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2287468	NM_194356.4(STX2):c.772A>G (p.Ser258Gly)	STX2 (S129G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410236	NM_194356.4(STX2):c.751A>G (p.Lys251Glu)	STX2 (K177E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485603	NM_194356.4(STX2):c.676G>A (p.Gly226Ser)	STX2 (G97S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619704	NM_194356.4(STX2):c.652A>G (p.Met218Val)	STX2 (M144V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271229	NM_194356.4(STX2):c.541A>G (p.Ile181Val)	STX2 (I153V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714413	NM_194356.4(STX2):c.538-4C>T	STX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2369552	NM_194356.4(STX2):c.320G>A (p.Arg107Gln)	STX2 (R107Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 714325	NM_194356.4(STX2):c.283A>G (p.Ile95Val)	STX2 (I21V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2277759	NM_194356.4(STX2):c.266G>A (p.Arg89Gln)	STX2 (R89Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469499	NM_194356.4(STX2):c.250A>G (p.Thr84Ala)	STX2 (T84A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 720382	NM_194356.4(STX2):c.205+9T>C	STX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2468167	NM_194356.4(STX2):c.197C>T (p.Pro66Leu)	STX2 (P38L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3171756	NM_194356.4(STX2):c.80A>G (p.His27Arg)	STX2 (H27R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460184	NM_194356.4(STX2):c.67G>A (p.Val23Ile)	STX2 (V23I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323470	NM_194356.4(STX2):c.52G>C (p.Asp18His)	STX2 (D18H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063263	GRCh37/hg19 12q24.33(chr12:131160735-131398260)x3	RAN, STX2	Copy number gain	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 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	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 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 441989	GRCh37/hg19 12q24.33(chr12:130571310-131324619)x3	FZD10, PIWIL1 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 36