16089[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 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 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 57367	GRCh38/hg38 4q28.2-31.21(chr4:128119872-142431375)x1	LINC02479, LINC02485 +185 more	Copy number loss	See cases	GPathogenic
Select item 154730	GRCh38/hg38 4q28.2(chr4:128270464-129216993)x3	C4orf33, JADE1 +39 more	Copy number gain	See cases	GLikely benign
Select item 2476981	NM_006320.6(PGRMC2):c.650A>G (p.Lys217Arg)	PGRMC2 (K217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475907	NM_006320.6(PGRMC2):c.551G>A (p.Arg184Gln)	PGRMC2 (R184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263330	NM_006320.6(PGRMC2):c.419C>T (p.Ala140Val)	PGRMC2 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308618	NM_006320.6(PGRMC2):c.415C>G (p.Pro139Ala)	PGRMC2 (P139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211911	NM_006320.6(PGRMC2):c.371A>G (p.Asn124Ser)	PGRMC2 (N124S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232913	NM_006320.6(PGRMC2):c.326G>T (p.Arg109Leu)	LOC129993060, PGRMC2 (R109L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306045	NM_006320.6(PGRMC2):c.309C>A (p.Phe103Leu)	LOC129993060, PGRMC2 (F103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306044	NM_006320.6(PGRMC2):c.289C>T (p.Arg97Cys)	LOC129993060, PGRMC2 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306046	NM_006320.6(PGRMC2):c.281C>G (p.Ser94Cys)	LOC129993060, PGRMC2 (S94C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616291	NM_006320.6(PGRMC2):c.247G>C (p.Gly83Arg)	PGRMC2 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362132	NM_006320.6(PGRMC2):c.242G>A (p.Gly81Glu)	PGRMC2 (G81E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2460210	NM_006320.6(PGRMC2):c.232C>T (p.Arg78Trp)	PGRMC2 (R78W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211909	NM_006320.6(PGRMC2):c.229C>T (p.Arg77Trp)	PGRMC2 (R77W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229806	NM_006320.6(PGRMC2):c.185C>T (p.Ala62Val)	PGRMC2 (A62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620474	NM_006320.6(PGRMC2):c.179T>C (p.Leu60Pro)	PGRMC2 (L60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492512	NM_006320.6(PGRMC2):c.151G>A (p.Gly51Ser)	PGRMC2 (G51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557385	NM_006320.6(PGRMC2):c.148G>T (p.Gly50Trp)	PGRMC2 (G50W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 279575	NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu)	PGRMC2 (G38E)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
Select item 3306043	NM_006320.5(PGRMC2):c.25G>A (p.Gly9Arg)	LOC129993062, PGRMC2 (G9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 814608	GRCh37/hg19 4q28.2-28.3(chr4:128898820-132769588)x1	SCLT1, PGRMC2 +4 more	Copy number loss	not provided	GUncertain significance
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 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
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	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 47