ClinVar for Gene (Select 57026) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305622	NM_020315.5(PDXP):c.566G>T (p.Arg189Leu)	PDXP (R189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305621	NM_020315.5(PDXP):c.565C>G (p.Arg189Gly)	PDXP (R189G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211113	NM_020315.5(PDXP):c.695G>A (p.Arg232His)	PDXP (R232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622270	NM_020315.5(PDXP):c.668C>T (p.Thr223Met)	PDXP (T223M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612124	NM_020315.5(PDXP):c.248A>C (p.Glu83Ala)	PDXP (E83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611888	NM_020315.5(PDXP):c.289C>T (p.Arg97Cys)	PDXP (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495603	NM_020315.5(PDXP):c.298C>G (p.Leu100Val)	PDXP (L100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472300	NM_020315.5(PDXP):c.100G>C (p.Glu34Gln)	PDXP (E34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461573	NM_020315.5(PDXP):c.835G>A (p.Val279Met)	PDXP (V279M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454739	NM_020315.5(PDXP):c.787C>T (p.Arg263Cys)	PDXP (R263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2361525	NM_020315.5(PDXP):c.343G>A (p.Gly115Ser)	LOC130067386, PDXP (G115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360352	NM_020315.5(PDXP):c.64G>A (p.Val22Ile)	PDXP (V22I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359942	NM_020315.5(PDXP):c.695G>T (p.Arg232Leu)	PDXP (R232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337211	NM_020315.5(PDXP):c.733C>T (p.Leu245Phe)	PDXP (L245F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336920	NM_020315.5(PDXP):c.18G>C (p.Arg6Ser)	PDXP (R6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333118	NM_020315.5(PDXP):c.104G>A (p.Arg35His)	PDXP (R35H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301698	NM_020315.5(PDXP):c.46C>G (p.Leu16Val)	PDXP (L16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271707	NM_020315.5(PDXP):c.136C>T (p.Arg46Trp)	PDXP (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265271	NM_020315.5(PDXP):c.815C>T (p.Ala272Val)	PDXP (A272V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249629	NM_020315.5(PDXP):c.611C>T (p.Ser204Leu)	PDXP (S204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226251	NM_020315.5(PDXP):c.862G>A (p.Ala288Thr)	PDXP (A288T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211054	NM_020315.5(PDXP):c.94A>G (p.Asn32Asp)	PDXP (N32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208671	NM_020315.5(PDXP):c.703A>T (p.Met235Leu)	PDXP (M235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	ANKRD54, BAIAP2L2 +41 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 221996	GRCh37/hg19 22q12.3-13.1(chr22:35680095-38098981)x1	APOL1, APOL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 154588	GRCh38/hg38 22q13.1(chr22:37537317-37803357)x3	CDC42EP1, GGA1 +34 more	Copy number gain	See cases	GUncertain significance
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57630	GRCh38/hg38 22q12.3-13.1(chr22:36552376-37669915)x1	C1QTNF6, CACNG2 +93 more	Copy number loss	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46