28440[HGNC] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 150129	GRCh38/hg38 1q32.2(chr1:207583527-210159181)x1	C1orf74, CAMK1G +97 more	Copy number loss	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 3187979	NM_014388.7(UTP25):c.23G>A (p.Ser8Asn)	UTP25 (S8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187986	NM_014388.7(UTP25):c.70C>T (p.Leu24Phe)	UTP25 (L24F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187964	NM_014388.7(UTP25):c.140G>C (p.Cys47Ser)	UTP25 (C47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331746	NM_014388.7(UTP25):c.221G>C (p.Arg74Thr)	UTP25 (R74T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187978	NM_014388.7(UTP25):c.233C>A (p.Thr78Lys)	UTP25 (T78K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331754	NM_014388.7(UTP25):c.303T>G (p.Asp101Glu)	UTP25 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187980	NM_014388.7(UTP25):c.319G>A (p.Asp107Asn)	UTP25 (D107N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458531	NM_014388.7(UTP25):c.344G>A (p.Ser115Asn)	UTP25 (S115N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187981	NM_014388.7(UTP25):c.422A>G (p.Glu141Gly)	UTP25 (E141G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187982	NM_014388.7(UTP25):c.463G>A (p.Glu155Lys)	UTP25 (E155K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187984	NM_014388.7(UTP25):c.493C>G (p.Leu165Val)	UTP25 (L165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610958	NM_014388.7(UTP25):c.530G>A (p.Ser177Asn)	UTP25 (S177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467043	NM_014388.7(UTP25):c.559C>G (p.Gln187Glu)	UTP25 (Q187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187985	NM_014388.7(UTP25):c.683C>G (p.Ser228Cys)	UTP25 (S228C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187987	NM_014388.7(UTP25):c.710A>G (p.Lys237Arg)	UTP25 (K237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331749	NM_014388.7(UTP25):c.715C>T (p.Pro239Ser)	UTP25 (P239S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187988	NM_014388.7(UTP25):c.802C>T (p.Pro268Ser)	UTP25 (P268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187989	NM_014388.7(UTP25):c.832C>G (p.Leu278Val)	UTP25 (L278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187990	NM_014388.7(UTP25):c.854T>A (p.Ile285Asn)	UTP25 (I285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331750	NM_014388.7(UTP25):c.881A>G (p.Tyr294Cys)	UTP25 (Y294C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187991	NM_014388.7(UTP25):c.907G>A (p.Gly303Arg)	UTP25 (G303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187992	NM_014388.7(UTP25):c.919C>T (p.Arg307Cys)	UTP25 (R307C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187993	NM_014388.7(UTP25):c.966T>G (p.Asn322Lys)	UTP25 (N322K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480063	NM_014388.7(UTP25):c.1033T>A (p.Phe345Ile)	UTP25 (F345I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331757	NM_014388.7(UTP25):c.1073T>C (p.Val358Ala)	UTP25 (V358A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331745	NM_014388.7(UTP25):c.1085G>A (p.Arg362Gln)	UTP25 (R362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187959	NM_014388.7(UTP25):c.1135G>T (p.Asp379Tyr)	UTP25 (D379Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594906	NM_014388.7(UTP25):c.1179G>T (p.Gln393His)	UTP25 (Q393H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187960	NM_014388.7(UTP25):c.1213C>T (p.Pro405Ser)	UTP25 (P405S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549153	NM_014388.7(UTP25):c.1252G>A (p.Val418Met)	UTP25 (V418M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187961	NM_014388.7(UTP25):c.1265A>T (p.Asp422Val)	UTP25 (D422V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552340	NM_014388.7(UTP25):c.1288G>A (p.Ala430Thr)	UTP25 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187962	NM_014388.7(UTP25):c.1316A>G (p.Tyr439Cys)	UTP25 (Y439C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187963	NM_014388.7(UTP25):c.1367G>A (p.Arg456Lys)	UTP25 (R456K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331752	NM_014388.7(UTP25):c.1411T>C (p.Phe471Leu)	UTP25 (F471L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187965	NM_014388.7(UTP25):c.1487A>G (p.His496Arg)	UTP25 (H496R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331751	NM_014388.7(UTP25):c.1514C>T (p.Pro505Leu)	UTP25 (P505L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187966	NM_014388.7(UTP25):c.1523C>T (p.Ser508Leu)	UTP25 (S508L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331755	NM_014388.7(UTP25):c.1544G>A (p.Arg515Gln)	UTP25 (R515Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187967	NM_014388.7(UTP25):c.1554G>A (p.Met518Ile)	UTP25 (M518I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331748	NM_014388.7(UTP25):c.1586G>A (p.Arg529His)	UTP25 (R529H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457774	NM_014388.7(UTP25):c.1601T>A (p.Phe534Tyr)	UTP25 (F534Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187968	NM_014388.7(UTP25):c.1666C>A (p.Gln556Lys)	UTP25 (Q556K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459773	NM_014388.7(UTP25):c.1679G>C (p.Arg560Thr)	UTP25 (R560T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187969	NM_014388.7(UTP25):c.1684G>A (p.Val562Ile)	UTP25 (V562I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464494	NM_014388.7(UTP25):c.1691T>C (p.Met564Thr)	UTP25 (M564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476362	NM_014388.7(UTP25):c.1843C>T (p.Leu615Phe)	UTP25 (L615F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515957	NM_014388.7(UTP25):c.1873G>A (p.Val625Met)	UTP25 (V625M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187970	NM_014388.7(UTP25):c.1903G>A (p.Glu635Lys)	UTP25 (E635K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187971	NM_014388.7(UTP25):c.1996C>T (p.Leu666Phe)	UTP25 (L666F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187972	NM_014388.7(UTP25):c.2009G>A (p.Arg670His)	UTP25 (R670H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187973	NM_014388.7(UTP25):c.2046C>G (p.Ile682Met)	UTP25 (I682M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187974	NM_014388.7(UTP25):c.2072C>G (p.Pro691Arg)	UTP25 (P691R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187975	NM_014388.7(UTP25):c.2087T>A (p.Phe696Tyr)	UTP25 (F696Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331753	NM_014388.7(UTP25):c.2146A>C (p.Thr716Pro)	UTP25 (T716P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187976	NM_014388.7(UTP25):c.2183G>A (p.Arg728Lys)	UTP25 (R728K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187977	NM_014388.7(UTP25):c.2231C>T (p.Ser744Phe)	UTP25 (S744F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	NUCKS1, NUDT17 +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979929	GRCh37/hg19 1q32.2(chr1:208703835-210154164)x3	G0S2, TRAF3IP3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 565218	GRCh37/hg19 1q32.2(chr1:210026523-211033868)x3	HHAT, KCNH1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	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 395067	GRCh37/hg19 1q32.2(chr1:209742722-210774573)x1	C1orf74, CAMK1G +9 more	Copy number loss	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 79