ClinVar for Gene (Select 5629) - ClinVar

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Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3310343	NM_001270616.2(PROX1):c.692A>G (p.Gln231Arg)	PROX1 (Q231R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310342	NM_001270616.2(PROX1):c.727C>A (p.Leu243Met)	PROX1 (L243M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310341	NM_001270616.2(PROX1):c.413C>A (p.Pro138Gln)	PROX1 (P138Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310340	NM_001270616.2(PROX1):c.956A>T (p.Glu319Val)	PROX1 (E319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310339	NM_001270616.2(PROX1):c.382A>G (p.Ile128Val)	PROX1 (I128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310338	NM_001270616.2(PROX1):c.1144G>A (p.Val382Ile)	PROX1 (V382I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310337	NM_001270616.2(PROX1):c.1013C>T (p.Pro338Leu)	PROX1 (P338L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310336	NM_001270616.2(PROX1):c.1097C>A (p.Thr366Asn)	PROX1 (T366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3219112	NM_001270616.2(PROX1):c.1264G>A (p.Asp422Asn)	PROX1 (D422N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049248	NM_001270616.2(PROX1):c.912A>C (p.Pro304=)	PROX1	Single nucleotide variant (synonymous variant)	PROX1-related disorder	GLikely benign
Select item 3044289	NM_001270616.2(PROX1):c.942G>C (p.Leu314=)	PROX1	Single nucleotide variant (synonymous variant)	PROX1-related disorder	GBenign
Select item 3041802	NM_001270616.2(PROX1):c.1007A>C (p.His336Pro)	PROX1 (H336P)	Single nucleotide variant (missense variant)	PROX1-related disorder	GLikely benign
Select item 3040264	NM_001270616.2(PROX1):c.*4T>A	PROX1	Single nucleotide variant (3 prime UTR variant)	PROX1-related disorder	GLikely benign
Select item 3039807	NM_001270616.2(PROX1):c.900C>T (p.Cys300=)	PROX1	Single nucleotide variant (synonymous variant)	PROX1-related disorder	GLikely benign
Select item 3031068	NC_000001.11:g.213977484G>A	PROX1, PROX1-AS1	Single nucleotide variant	PROX1-related disorder	GLikely benign
Select item 2611291	NM_001270616.2(PROX1):c.706C>T (p.Arg236Cys)	PROX1 (R236C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604884	NM_001270616.2(PROX1):c.682C>G (p.Arg228Gly)	PROX1 (R228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486954	NM_001270616.2(PROX1):c.733G>A (p.Asp245Asn)	PROX1 (D245N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476391	NM_001270616.2(PROX1):c.418T>C (p.Cys140Arg)	PROX1 (C140R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382351	NM_001270616.2(PROX1):c.584C>T (p.Pro195Leu)	PROX1 (P195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370674	NM_001270616.2(PROX1):c.176T>C (p.Val59Ala)	PROX1 (V59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357976	NM_001270616.2(PROX1):c.959T>C (p.Met320Thr)	PROX1 (M320T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354182	NM_001270616.2(PROX1):c.902A>G (p.Glu301Gly)	PROX1 (E301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323388	NM_001270616.2(PROX1):c.236C>T (p.Ser79Leu)	PROX1 (S79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317922	NM_001270616.2(PROX1):c.182A>G (p.His61Arg)	PROX1 (H61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311917	NM_001270616.2(PROX1):c.392A>G (p.Asn131Ser)	PROX1 (N131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309619	NM_001270616.2(PROX1):c.1348C>A (p.Gln450Lys)	PROX1 (Q450K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303947	NM_001270616.2(PROX1):c.1395C>A (p.His465Gln)	PROX1 (H465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296668	NM_001270616.2(PROX1):c.556G>A (p.Gly186Ser)	PROX1 (G186S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273689	NM_001270616.2(PROX1):c.901G>A (p.Glu301Lys)	PROX1 (E301K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265336	NM_001270616.2(PROX1):c.229G>T (p.Ala77Ser)	PROX1 (A77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248542	NM_001270616.2(PROX1):c.1258C>T (p.Pro420Ser)	PROX1 (P420S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1679723	Single allele	LOC110121306, LOC120908906 +14 more	Duplication	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 749798	NM_001270616.2(PROX1):c.1305G>A (p.Gln435=)	PROX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745885	NM_001270616.2(PROX1):c.183T>C (p.His61=)	PROX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734444	NM_001270616.2(PROX1):c.99T>C (p.Phe33=)	PROX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 685129	GRCh37/hg19 1q32.3-41(chr1:213650050-215256600)x3	KCNK2, LINC00538 +4 more	Copy number gain	not provided	GUncertain significance
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 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
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 154040	GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3	CENPF, ESRRG +40 more	Copy number gain	See cases	GUncertain significance
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 147391	GRCh38/hg38 1q32.3-41(chr1:214023812-216598173)x3	CENPF, ESRRG +30 more	Copy number gain	See cases	GUncertain significance
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
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 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 56