GYPA[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 147312	GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1	ABCE1, ANAPC10 +123 more	Copy number loss	See cases	GPathogenic
Select item 147586	GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1	ABCE1, ANAPC10 +42 more	Copy number loss	See cases	GPathogenic
Select item 150689	GRCh38/hg38 4q31.21(chr4:143823647-144112197)x3	GYPA, GYPB +3 more	Copy number gain	See cases	GLikely benign
Select item 144497	GRCh38/hg38 4q31.21(chr4:144112130-144651801)x1	GYPA, HHIP +6 more	Copy number loss	See cases	GUncertain significance
Select item 2322982	NM_002099.8(GYPA):c.433C>A (p.Pro145Thr)	GYPA (P112T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103371	NM_002099.8(GYPA):c.365C>T (p.Pro122Leu)	GYPA (P122L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488847	NM_002099.8(GYPA):c.364C>T (p.Pro122Ser)	GYPA (P109S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604775	NM_002099.8(GYPA):c.347G>T (p.Arg116Leu)	GYPA (R83L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621490	NM_002099.8(GYPA):c.343C>A (p.Arg115Ser)	GYPA (R115S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103370	NM_002099.8(GYPA):c.337G>A (p.Gly113Ser)	GYPA (G100S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526468	NM_002099.8(GYPA):c.251C>T (p.Ala84Val)	GYPA (A84V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 17714	NM_002099.8(GYPA):c.232G>A (p.Gly78Arg)	GYPA (G78R +2 more)	Single nucleotide variant (missense variant)	BLOOD GROUP ERIK	GPathogenic
Select item 2307984	NM_002099.8(GYPA):c.205A>G (p.Thr69Ala)	GYPA (T69A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270806	NM_002099.8(GYPA):c.169C>A (p.Pro57Thr)	GYPA (P24T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103372	NM_002099.8(GYPA):c.80T>C (p.Met27Thr)	GYPA (M27T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2380498	NM_002099.8(GYPA):c.68C>A (p.Thr23Asn)	GYPA (T23N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688727	GRCh37/hg19 4q31.21(chr4:144737063-145858335)x1	GYPA, GYPB +2 more	Copy number loss	not provided	GUncertain significance
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 43