GPA33[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 60043	GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)x1	LOC129931815, LOC129931816 +151 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 2341082	NM_005814.3(GPA33):c.952G>A (p.Asp318Asn)	GPA33 (D318N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282018	NM_005814.3(GPA33):c.941C>T (p.Pro314Leu)	GPA33 (P314L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371547	NM_005814.3(GPA33):c.851C>T (p.Pro284Leu)	GPA33 (P284L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101083	NM_005814.3(GPA33):c.841T>A (p.Tyr281Asn)	GPA33 (Y281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296041	NM_005814.3(GPA33):c.715G>A (p.Val239Met)	GPA33 (V239M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 727135	NM_005814.3(GPA33):c.706G>A (p.Ala236Thr)	GPA33 (A236T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3282019	NM_005814.3(GPA33):c.695C>T (p.Ser232Phe)	GPA33 (S232F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288681	NM_005814.3(GPA33):c.679G>A (p.Ala227Thr)	GPA33 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101082	NM_005814.3(GPA33):c.614C>T (p.Thr205Ile)	GPA33 (T205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 772820	NM_005814.3(GPA33):c.495G>T (p.Lys165Asn)	GPA33 (K165N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3282017	NM_005814.3(GPA33):c.482C>A (p.Thr161Asn)	GPA33 (T161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457364	NM_005814.3(GPA33):c.479T>C (p.Leu160Pro)	GPA33 (L160P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543404	NM_005814.3(GPA33):c.440G>T (p.Gly147Val)	GPA33 (G147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394311	NM_005814.3(GPA33):c.439G>A (p.Gly147Ser)	GPA33 (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282020	NM_005814.3(GPA33):c.395G>A (p.Arg132His)	GPA33 (R132H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739915	NM_005814.3(GPA33):c.394C>T (p.Arg132Cys)	GPA33 (R132C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2457375	NM_005814.3(GPA33):c.297T>A (p.Asp99Glu)	GPA33 (D99E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101081	NM_005814.3(GPA33):c.295G>A (p.Asp99Asn)	GPA33 (D99N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101080	NM_005814.3(GPA33):c.262C>T (p.Arg88Cys)	GPA33 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282021	NM_005814.3(GPA33):c.233A>C (p.Asn78Thr)	GPA33 (N78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352019	NM_005814.3(GPA33):c.218C>G (p.Pro73Arg)	GPA33 (P73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293784	NM_005814.3(GPA33):c.214T>C (p.Trp72Arg)	GPA33 (W72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101079	NM_005814.3(GPA33):c.212T>C (p.Ile71Thr)	GPA33 (I71T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2355413	NM_005814.3(GPA33):c.197C>T (p.Thr66Met)	GPA33 (T66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331794	NM_005814.3(GPA33):c.131C>T (p.Thr44Ile)	GPA33 (T44I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321874	NM_005814.3(GPA33):c.94C>T (p.Arg32Trp)	GPA33 (R32W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293232	NM_005814.3(GPA33):c.80C>T (p.Pro27Leu)	GPA33 (P27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527348	GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331)	ADCY10, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979302	GRCh37/hg19 1q23.3-24.2(chr1:164608682-169216098)x1	STYXL2, GPR161 +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 814136	GRCh37/hg19 1q24.1-24.2(chr1:166284108-167681975)x1	CREG1, TADA1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688465	GRCh37/hg19 1q23.3-24.2(chr1:163093021-168991239)x1	ADCY10, ALDH9A1 +30 more	Copy number loss	not provided	GPathogenic
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 45