8599[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 81

	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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 81