8626[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 153734	GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1	ABCC5, ABCC5-AS1 +399 more	Copy number loss	See cases	GPathogenic
Select item 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	See cases	GPathogenic
Select item 148900	GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1	ADIPOQ, ADIPOQ-AS1 +237 more	Copy number loss	See cases	GPathogenic
Select item 545290	NC_000003.12:g.(?_187222939)_(194312782_?)del	ATP13A4, ATP13A4-AS1 +180 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 155397	GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1	LOC132088908, LOC132088909 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 57871	GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1	BCL6, BCL6-AS1 +70 more	Copy number loss	See cases	GPathogenic
Select item 57870	GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1	ATP13A3, ATP13A3-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 57872	GRCh38/hg38 3q28(chr3:188362559-189767088)x1	LOC111162620, LOC123464480 +22 more	Copy number loss	See cases	GPathogenic
Select item 155446	GRCh38/hg38 3q28(chr3:189218502-190089843)x3	LOC111162620, LOC111162621 +18 more	Copy number gain	See cases	GLikely benign
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 155402	GRCh38/hg38 3q28(chr3:189490327-189767254)x1	LOC111162620, LOC129938146 +1 more	Copy number loss	See cases	GUncertain significance
Select item 1187903	NM_001329964.2(TP63):c.56+33909C>T	LOC111162620, TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263190	NM_001329964.2(TP63):c.56+33942_56+33946del	LOC111162620, TP63	Deletion (intron variant)	not provided	GBenign
Select item 900929	NM_003722.5(TP63):c.-87C>T	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GUncertain significance
Select item 344378	NM_003722.5(TP63):c.-65C>T	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +3 more	GUncertain significance
Select item 344379	NM_003722.5(TP63):c.-58A>T	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GBenign
Select item 902594	NM_003722.5(TP63):c.-38T>C	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 8 +2 more	GUncertain significance
Select item 903439	NM_003722.5(TP63):c.-3G>C	LOC111162620, TP63	Single nucleotide variant (5 prime UTR variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 1178338	NM_003722.5(TP63):c.3G>T (p.Met1Ile)	TP63 (M1I)	Single nucleotide variant (missense variant +2 more)	Furrowed tongue	GLikely pathogenic
Select item 2412940	NM_003722.5(TP63):c.19C>T (p.Arg7Trp)	TP63 (R7W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1601412	NM_003722.5(TP63):c.20G>T (p.Arg7Leu)	TP63 (R7L)	Single nucleotide variant (missense variant +1 more)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GBenign/Likely benign
Select item 2065057	NM_003722.5(TP63):c.26C>G (p.Ala9Gly)	TP63 (A9G)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1987872	NM_003722.5(TP63):c.27C>T (p.Ala9=)	TP63	Single nucleotide variant (synonymous variant +1 more)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2730899	NM_003722.5(TP63):c.35A>C (p.Gln12Pro)	TP63 (Q12P)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1913461	NM_003722.5(TP63):c.47A>G (p.Asp16Gly)	TP63 (D16G)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1421645	NM_003722.5(TP63):c.50C>G (p.Pro17Arg)	TP63 (P17R)	Single nucleotide variant (missense variant +1 more)	ADULT syndrome +7 more	GUncertain significance
Select item 1677245	NM_003722.5(TP63):c.53A>G (p.Tyr18Cys)	TP63 (Y18C)	Single nucleotide variant (missense variant +1 more)	Premature ovarian insufficiency	GUncertain significance
Select item 903440	NM_003722.5(TP63):c.61C>T (p.Arg21Cys)	TP63 (R21C)	Single nucleotide variant (missense variant +1 more)	TP63-Related Spectrum Disorders +2 more	GUncertain significance
Select item 1510128	NM_003722.5(TP63):c.62G>A (p.Arg21His)	TP63 (R21H)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1915853	NM_003722.5(TP63):c.62+18A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 1204553	NM_003722.5(TP63):c.62+225C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164337	NM_003722.5(TP63):c.62+6895T>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GBenign
Select item 1592350	NM_003722.5(TP63):c.62+8236_62+8237inv	TP63	Inversion (intron variant)	TP63-Related Spectrum Disorders	GBenign
Select item 1167533	NM_003722.5(TP63):c.62+8236T>C	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GBenign
Select item 1241847	NM_003722.5(TP63):c.62+24867G>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234137	NM_003722.5(TP63):c.62+24991T>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683868	NM_003722.5(TP63):c.62+25231C>T	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228444	NM_003722.5(TP63):c.62+25276G>C	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264861	NM_003722.5(TP63):c.62+49783A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225374	NM_003722.5(TP63):c.62+49875T>C	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327237	NM_003722.5(TP63):c.62+49918G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233871	NM_003722.5(TP63):c.62+50004G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177730	NM_003722.5(TP63):c.62+50063C>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234146	NM_003722.5(TP63):c.62+50167A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256918	NM_003722.5(TP63):c.63-30964A>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 549588	NC_000003.12:g.189709350_189870688dup	LOC111162621, LOC129938147 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 549587	NC_000003.12:g.189709350_189867832dup	LOC111162621, LOC129938147 +2 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 1254122	NM_003722.5(TP63):c.63-6388del	TP63	Deletion (intron variant)	not provided	GBenign
Select item 1276115	NM_003722.5(TP63):c.63-6311C>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224575	NM_003722.5(TP63):c.63-6274G>T	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267398	NM_003722.5(TP63):c.63-6066G>A	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270627	NM_003722.5(TP63):c.63-336A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271522	NM_003722.5(TP63):c.63-149A>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1616523	NM_003722.5(TP63):c.63-20T>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 3009000	NM_003722.5(TP63):c.63-18C>A	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 1559536	NM_003722.5(TP63):c.63-17A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GBenign
Select item 632415	NM_003722.5(TP63):c.63-1G>C	TP63	Single nucleotide variant (splice acceptor variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 2174189	NM_003722.5(TP63):c.67G>A (p.Val23Ile)	TP63 (V21I +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2801194	NM_003722.5(TP63):c.72A>T (p.Glu24Asp)	TP63 (E22D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1669960	NM_003722.5(TP63):c.75C>T (p.Thr25=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 725955	NM_003722.5(TP63):c.84T>G (p.His28Gln)	TP63 (H26Q +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders +2 more	GConflicting classifications of pathogenicity
Select item 2844758	NM_003722.5(TP63):c.96A>G (p.Lys32=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 638894	NM_003722.5(TP63):c.109C>T (p.Arg37Ter)	TP63 (R35* +1 more)	Single nucleotide variant (nonsense)	TP63-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1398414	NM_003722.5(TP63):c.110G>A (p.Arg37Gln)	TP63 (R35Q +1 more)	Single nucleotide variant (missense variant)	ADULT syndrome +7 more	GUncertain significance
Select item 3032212	NM_003722.5(TP63):c.114C>T (p.Ser38=)	TP63	Single nucleotide variant (synonymous variant)	TP63-related disorder	GLikely benign
Select item 2172420	NM_003722.5(TP63):c.117C>T (p.Thr39=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2860480	NM_003722.5(TP63):c.119T>G (p.Met40Arg)	TP63 (M40R +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2632741	NM_003722.5(TP63):c.122C>T (p.Ser41Phe)	TP63 (S39F +1 more)	Single nucleotide variant (missense variant)	TP63-related disorder	GUncertain significance
Select item 1488789	NM_003722.5(TP63):c.125A>T (p.Gln42Leu)	TP63 (Q40L +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2254221	NM_003722.5(TP63):c.131C>T (p.Thr44Ile)	TP63 (T42I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2872737	NM_003722.5(TP63):c.139A>G (p.Asn47Asp)	TP63 (N47D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1571613	NM_003722.5(TP63):c.141T>C (p.Asn47=)	TP63	Single nucleotide variant (synonymous variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 1718839	NM_003722.5(TP63):c.142G>A (p.Glu48Lys)	TP63 (E46K +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 2007375	NM_003722.5(TP63):c.144A>T (p.Glu48Asp)	TP63 (E46D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 762738	NM_003722.5(TP63):c.150C>T (p.Leu50=)	TP63	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1597542	NM_003722.5(TP63):c.156A>G (p.Pro52=)	TP63	Single nucleotide variant (synonymous variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +7 more	GLikely benign
Select item 2038409	NM_003722.5(TP63):c.159G>C (p.Glu53Asp)	TP63 (E53D +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 1678485	NM_003722.5(TP63):c.176G>C (p.Trp59Ser)	TP63 (W57S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367750	NM_003722.5(TP63):c.190C>G (p.Gln64Glu)	TP63 (Q62E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 495341	NM_003722.5(TP63):c.191+5G>C	TP63	Single nucleotide variant (intron variant)	Muscular dystrophy	GUncertain significance
Select item 1613138	NM_003722.5(TP63):c.191+9A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 259131	NM_003722.5(TP63):c.191+24T>C	TP63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1236039	NM_003722.5(TP63):c.191+254C>G	TP63	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188518	NM_003722.5(TP63):c.191+275A>C	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214233	NM_003722.5(TP63):c.192-287A>G	TP63	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 196365	NM_003722.5(TP63):c.192-9_192-8del	TP63	Deletion (intron variant)	TP63-Related Spectrum Disorders +9 more	GBenign/Likely benign
Select item 1407086	NM_003722.5(TP63):c.192-9A>G	TP63	Single nucleotide variant (intron variant)	TP63-Related Spectrum Disorders	GLikely benign
Select item 2728047	NM_003722.5(TP63):c.194C>T (p.Pro65Leu)	TP63 (P63L +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance
Select item 899830	NM_003722.5(TP63):c.210G>C (p.Gln70His)	TP63 (Q68H +1 more)	Single nucleotide variant (missense variant)	Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more	GConflicting classifications of pathogenicity
Select item 2904475	NM_003722.5(TP63):c.248A>T (p.Asp83Val)	TP63 (D81V +1 more)	Single nucleotide variant (missense variant)	TP63-Related Spectrum Disorders	GUncertain significance

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