PANX1[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 1248231	NC_000011.10:g.94128631A>G	PANX1	Single nucleotide variant	not provided	GBenign
Select item 1228505	NM_015368.4(PANX1):c.-459C>T	PANX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1271612	NM_015368.4(PANX1):c.-223CCGCC[3]	LOC130006598, PANX1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1241308	NM_015368.4(PANX1):c.-21C>G	LOC130006599, PANX1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1254433	NM_015368.4(PANX1):c.15A>C (p.Gln5His)	LOC130006599, PANX1 (Q5H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2561005	NM_015368.4(PANX1):c.22A>G (p.Thr8Ala)	LOC130006599, PANX1 (T8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208355	NM_015368.4(PANX1):c.49C>G (p.Leu17Val)	LOC130006599, PANX1 (L17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689424	NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)	LOC130006599, PANX1	Deletion (inframe_deletion)	Oocyte maturation defect 7	GPathogenic
Select item 3208357	NM_015368.4(PANX1):c.68C>G (p.Pro23Arg)	LOC130006599, PANX1 (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781966	NM_015368.4(PANX1):c.81G>T (p.Gly27=)	LOC130006599, PANX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725136	NM_015368.4(PANX1):c.99T>C (p.Ala33=)	LOC130006599, PANX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3208351	NM_015368.4(PANX1):c.190A>G (p.Ile64Val)	PANX1 (I64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593155	NM_015368.4(PANX1):c.191T>C (p.Ile64Thr)	PANX1 (I64T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044000	NM_015368.4(PANX1):c.261T>C (p.Ala87=)	PANX1	Single nucleotide variant (synonymous variant)	PANX1-related disorder	GLikely benign
Select item 2406289	NM_015368.4(PANX1):c.262G>T (p.Val88Phe)	PANX1 (V88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208352	NM_015368.4(PANX1):c.300C>A (p.Asn100Lys)	PANX1 (N100K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1244633	NM_015368.4(PANX1):c.321+42G>C	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3304195	NM_015368.4(PANX1):c.346T>G (p.Phe116Val)	PANX1 (F116V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362338	NM_015368.4(PANX1):c.374T>C (p.Leu125Pro)	PANX1 (L125P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622985	NM_015368.4(PANX1):c.382C>T (p.Arg128Cys)	PANX1 (R128C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379998	NM_015368.4(PANX1):c.383G>A (p.Arg128His)	PANX1 (R128H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596384	NM_015368.4(PANX1):c.388G>A (p.Ala130Thr)	PANX1 (A130T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3208353	NM_015368.4(PANX1):c.455G>A (p.Arg152His)	PANX1 (R152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783644	NM_015368.4(PANX1):c.465G>C (p.Lys155Asn)	PANX1 (K155N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3208354	NM_015368.4(PANX1):c.472A>G (p.Lys158Glu)	PANX1 (K158E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349801	NM_015368.4(PANX1):c.479C>T (p.Ala160Val)	PANX1 (A160V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3039980	NM_015368.4(PANX1):c.519A>G (p.Pro173=)	PANX1	Single nucleotide variant (synonymous variant)	PANX1-related disorder	GLikely benign
Select item 2320876	NM_015368.4(PANX1):c.536T>C (p.Leu179Ser)	PANX1 (L179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1230901	NM_015368.4(PANX1):c.545+98C>T	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280984	NM_015368.4(PANX1):c.546-148C>T	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263901	NM_015368.4(PANX1):c.546-130A>G	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3208356	NM_015368.4(PANX1):c.583A>G (p.Ile195Val)	PANX1 (I195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 242931	NM_015368.4(PANX1):c.650G>A (p.Arg217His)	PANX1 (R217H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2484066	NM_015368.4(PANX1):c.652C>A (p.Leu218Met)	PANX1 (L218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304196	NM_015368.4(PANX1):c.667A>G (p.Ile223Val)	PANX1 (I223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304197	NM_015368.4(PANX1):c.689A>G (p.Tyr230Cys)	PANX1 (Y230C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269179	NM_015368.4(PANX1):c.727G>A (p.Glu243Lys)	PANX1 (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582703	NM_015368.4(PANX1):c.749C>T (p.Ser250Leu)	PANX1 (S250L)	Single nucleotide variant (missense variant)	Oocyte maturation defect 7	GUncertain significance
Select item 3045613	NM_015368.4(PANX1):c.765C>T (p.Asn255=)	PANX1	Single nucleotide variant (synonymous variant)	PANX1-related disorder	GLikely benign
Select item 2250236	NM_015368.4(PANX1):c.766G>A (p.Asp256Asn)	PANX1 (D256N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252537	NM_015368.4(PANX1):c.814A>G (p.Ile272Val)	PANX1 (I272V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2387502	NM_015368.4(PANX1):c.847G>T (p.Val283Phe)	PANX1 (V283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734783	NM_015368.4(PANX1):c.868G>A (p.Val290Met)	PANX1 (V290M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3059524	NM_015368.4(PANX1):c.882G>A (p.Thr294=)	PANX1	Single nucleotide variant (synonymous variant)	PANX1-related disorder	GLikely benign
Select item 3208359	NM_015368.4(PANX1):c.911A>C (p.Asp304Ala)	PANX1 (D304A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221670	NM_015368.4(PANX1):c.962A>G (p.Lys321Arg)	PANX1 (K321R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321538	NM_015368.4(PANX1):c.1007A>G (p.Glu336Gly)	PANX1 (E336G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 689423	NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu)	PANX1 (K346E)	Single nucleotide variant (missense variant)	Oocyte maturation defect 7	GPathogenic
Select item 689422	NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser)	PANX1 (C347S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 7	GPathogenic
Select item 3058060	NM_015368.4(PANX1):c.1083C>T (p.Ile361=)	PANX1	Single nucleotide variant (synonymous variant)	PANX1-related disorder	GLikely benign
Select item 2246819	NM_015368.4(PANX1):c.1084G>A (p.Asp362Asn)	PANX1 (D362N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726979	NM_015368.4(PANX1):c.1133T>C (p.Val378Ala)	PANX1 (V378A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3304194	NM_015368.4(PANX1):c.1150A>T (p.Met384Leu)	PANX1 (M384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400388	NM_015368.4(PANX1):c.1156G>A (p.Ala386Thr)	PANX1 (A386T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1291451	NM_015368.4(PANX1):c.1170G>T (p.Glu390Asp)	PANX1 (E390D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689421	NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter)	PANX1 (Q392*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 7	GPathogenic
Select item 776649	NM_015368.4(PANX1):c.1187C>T (p.Thr396Met)	PANX1 (T396M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 740517	NM_015368.4(PANX1):c.1201+9T>G	PANX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245811	NM_015368.4(PANX1):c.1201+35T>C	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234552	NM_015368.4(PANX1):c.1201+69T>C	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245579	NM_015368.4(PANX1):c.1202-265C>T	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246916	NM_015368.4(PANX1):c.1202-264T>C	PANX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3208350	NM_015368.4(PANX1):c.1253G>A (p.Arg418Gln)	PANX1 (R418Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3382423	NM_015368.4(PANX1):c.1281A>T (p.Ter427Cys)	PANX1	Single nucleotide variant (stop lost)	Oocyte maturation defect 7	GUncertain significance
Select item 1240955	NM_015368.4(PANX1):c.*94A>G	PANX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527661	GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	ANKRD49, C11orf54 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527655	GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	AMOTL1, ANKRD42 +66 more	Copy number loss	not specified	GPathogenic
Select item 1527654	GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	AMOTL1, ANKRD42 +72 more	Copy number loss	not specified	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 980970	GRCh37/hg19 11q21(chr11:93676223-94342737)x3	ANKRD49, FUT4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815457	GRCh37/hg19 11q21(chr11:93297444-94041273)x3	PANX1, CEP295 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441837	GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	AASDHPPT, ACAT1 +95 more	Copy number loss	See cases	GPathogenic

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Items: 82