ClinVar for Gene (Select 22976) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304494	NM_007349.4(PAXIP1):c.2126A>G (p.His709Arg)	PAXIP1 (H709R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304493	NM_007349.4(PAXIP1):c.2487A>T (p.Arg829Ser)	PAXIP1 (R829S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304492	NM_007349.4(PAXIP1):c.166A>G (p.Asn56Asp)	PAXIP1 (N56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304491	NM_007349.4(PAXIP1):c.722A>G (p.Glu241Gly)	PAXIP1 (E241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304490	NM_007349.4(PAXIP1):c.783G>C (p.Glu261Asp)	PAXIP1 (E261D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209012	NM_007349.4(PAXIP1):c.559A>G (p.Ile187Val)	PAXIP1 (I187V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209011	NM_007349.4(PAXIP1):c.3029G>A (p.Arg1010Gln)	LOC126860239, PAXIP1 +1 more (R1010Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3209010	NM_007349.4(PAXIP1):c.3011C>A (p.Ser1004Tyr)	LOC126860239, PAXIP1 +1 more (S1004Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3209008	NM_007349.4(PAXIP1):c.2402C>T (p.Ala801Val)	PAXIP1 (A801V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209007	NM_007349.4(PAXIP1):c.1721C>T (p.Pro574Leu)	PAXIP1 (P574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209006	NM_007349.4(PAXIP1):c.16C>T (p.Pro6Ser)	LOC129999695, PAXIP1 (P6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062973	GRCh37/hg19 7q36.2-36.3(chr7:154569343-155232009)x3	HTR5A, INSIG1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 2685274	GRCh37/hg19 7q35-36.3(chr7:144940098-159119707)x1	INSIG1, PDIA4 +80 more	Copy number loss	not provided	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2658275	NM_007349.4(PAXIP1):c.681T>C (p.Ser227=)	PAXIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658274	NM_007349.4(PAXIP1):c.1101G>A (p.Thr367=)	PAXIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579275	GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1	BLACE, CNPY1 +193 more	Copy number loss	Holoprosencephaly 3	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2570257	NM_007349.4(PAXIP1):c.508G>A (p.Val170Ile)	PAXIP1 (V170I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548642	NM_007349.4(PAXIP1):c.818A>G (p.Gln273Arg)	PAXIP1 (Q273R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543723	NM_007349.4(PAXIP1):c.731A>C (p.Lys244Thr)	PAXIP1 (K244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520891	NM_007349.4(PAXIP1):c.1142A>G (p.His381Arg)	PAXIP1 (H381R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515913	NM_007349.4(PAXIP1):c.1100C>T (p.Thr367Met)	PAXIP1 (T367M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507487	NM_007349.4(PAXIP1):c.1979C>T (p.Ala660Val)	PAXIP1 (A660V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2504594	GRCh37/hg19 7q36.2-36.3(chr7:154672988-155411249)x3	PAXIP1, RBM33 +4 more	Copy number gain	See cases	GUncertain significance
Select item 2467582	NM_007349.4(PAXIP1):c.2662A>G (p.Ile888Val)	PAXIP1 (I888V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422565	NC_000007.13:g.(?_152617597)_(158500659_?)del	INSIG1, LMBR1 +13 more	Deletion	not provided	GPathogenic
Select item 2368629	NM_007349.4(PAXIP1):c.1688C>T (p.Ala563Val)	PAXIP1 (A563V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368029	NM_007349.4(PAXIP1):c.2357T>G (p.Ile786Ser)	PAXIP1 (I786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367705	NM_007349.4(PAXIP1):c.1054C>T (p.Arg352Trp)	PAXIP1 (R352W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367273	NM_007349.4(PAXIP1):c.2557G>A (p.Asp853Asn)	PAXIP1 (D853N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355646	NM_007349.4(PAXIP1):c.1184C>T (p.Thr395Ile)	PAXIP1 (T395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352763	NM_007349.4(PAXIP1):c.368T>A (p.Phe123Tyr)	PAXIP1 (F123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339434	NM_007349.4(PAXIP1):c.2507A>G (p.Gln836Arg)	PAXIP1 (Q836R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329074	NM_007349.4(PAXIP1):c.811G>T (p.Val271Phe)	PAXIP1 (V271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299223	NM_007349.4(PAXIP1):c.1679C>T (p.Thr560Met)	PAXIP1 (T560M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285328	NM_007349.4(PAXIP1):c.867G>C (p.Leu289Phe)	PAXIP1 (L289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281563	NM_007349.4(PAXIP1):c.512C>T (p.Ser171Leu)	PAXIP1 (S171L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280268	NM_007349.4(PAXIP1):c.1645A>G (p.Met549Val)	PAXIP1 (M549V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271706	NM_007349.4(PAXIP1):c.2983G>A (p.Val995Ile)	LOC126860239, PAXIP1 +1 more (V995I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2260552	NM_007349.4(PAXIP1):c.2255C>T (p.Thr752Ile)	PAXIP1 (T752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235995	NM_007349.4(PAXIP1):c.2288G>T (p.Arg763Met)	PAXIP1 (R763M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230956	NM_007349.4(PAXIP1):c.770C>T (p.Pro257Leu)	PAXIP1 (P257L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225093	NM_007349.4(PAXIP1):c.491A>G (p.Asp164Gly)	PAXIP1 (D164G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224401	NM_007349.4(PAXIP1):c.620A>T (p.Asp207Val)	PAXIP1 (D207V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223935	NM_007349.4(PAXIP1):c.932A>G (p.Asn311Ser)	PAXIP1 (N311S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527416	GRCh37/hg19 7q36.2-36.3(chr7:154598166-155105679)	HTR5A, INSIG1 +1 more	Copy number gain	not specified	GUncertain significance
Select item 1341986	GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1	ACTR3C, AGAP3 +65 more	Copy number loss	not provided	GPathogenic
Select item 1341970	GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3	CUL1, DNAJB6 +80 more	Copy number gain	not provided	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340734	GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3	ACTR3C, ABCB8 +75 more	Copy number gain	not provided	GPathogenic
Select item 1340055	GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1	ABCB8, ABCF2 +72 more	Copy number loss	not provided	GPathogenic
Select item 983166	GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1	UBE3C, ESYT2 +16 more	Copy number loss	See cases	GPathogenic
Select item 973042	GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3	ABCB8, ABCF2 +96 more	Copy number gain	not provided	Gnot provided
Select item 929391	GRCh37/hg19 7q36.2-36.3(chr7:154585431-155488931)x3	CNPY1, EN2 +4 more	Copy number gain	See cases	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815057	GRCh37/hg19 7q36.2-36.3(chr7:154636301-155105679)x3	HTR5A, INSIG1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 815045	GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1	NOM1, NOS3 +80 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686553	GRCh37/hg19 7q36.2(chr7:154624028-154739204)x3	PAXIP1	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 563418	GRCh37/hg19 7q36.2-36.3(chr7:153958355-159119707)x1	INSIG1, ESYT2 +16 more	Copy number loss	not provided	GPathogenic
Select item 563414	GRCh37/hg19 7q36.1-36.3(chr7:152578849-156183328)x3	CNPY1, EN2 +5 more	Copy number gain	not provided	GLikely pathogenic
Select item 563392	GRCh37/hg19 7q36.2(chr7:153868270-155015333)x3	HTR5A, PAXIP1	Copy number gain	not provided	GUncertain significance
Select item 545343	NC_000007.14:g.(?_152454659)_(158705768_?)del	LOC126860233, LOC129999706 +190 more	Deletion	Autism	GLikely pathogenic
Select item 443708	GRCh37/hg19 7q36.1-36.3(chr7:151167135-159119707)x1	ACTR3B, CNPY1 +23 more	Copy number loss	See cases	GPathogenic
Select item 443393	GRCh37/hg19 7q36.2-36.3(chr7:153700272-155222442)x1	HTR5A, INSIG1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442820	GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3	ACTR3B, CNPY1 +22 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 442404	GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3	ACTR3B, AGAP3 +43 more	Copy number gain	See cases	GLikely pathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 393748	GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3	ABCB8, ABCF2 +63 more	Copy number gain	See cases	GPathogenic
Select item 226277	GRCh37/hg19 7q35-36.3(chr7:143839360-159138663)	CRYGN, CTAGE4 +89 more	Copy number loss	Abnormal esophagus morphology	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 155436	GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1	UBE3C, VIPR2 +526 more	Copy number loss	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 154525	GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1	ABCB8, ABCF2 +407 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150933	GRCh38/hg38 7q36.1-36.3(chr7:152428852-159335865)x3	ACTR3B, BLACE +225 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148943	GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1	ABCB8, ABCF2 +540 more	Copy number loss	See cases	GPathogenic
Select item 148715	GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1	ABCB8, ABCF2 +473 more	Copy number loss	See cases	GPathogenic
Select item 148391	GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1	ABCB8, ABCF2 +351 more	Copy number loss	See cases	GPathogenic
Select item 148263	GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1	LOC129999684, LOC129999685 +538 more	Copy number loss	See cases	GLikely pathogenic

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