"GeneDx"[submitter] AND "DISP1"[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1218757	NM_001377229.1(DISP1):c.-17-279G>A	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247665	NM_001377229.1(DISP1):c.-17-40C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 439599	NM_001377229.1(DISP1):c.75G>A (p.Pro25=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 421025	NM_001377229.1(DISP1):c.89C>T (p.Pro30Leu)	DISP1 (P30L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 262129	NM_001377229.1(DISP1):c.307G>A (p.Glu103Lys)	DISP1 (E103K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 262130	NM_001377229.1(DISP1):c.309G>T (p.Glu103Asp)	DISP1 (E103D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1313671	NM_001377229.1(DISP1):c.326C>T (p.Pro109Leu)	DISP1 (P109L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1309072	NM_001377229.1(DISP1):c.463G>A (p.Asp155Asn)	DISP1 (D155N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1225405	NM_001377229.1(DISP1):c.509+213C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280798	NM_001377229.1(DISP1):c.509+249A>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182516	NM_001377229.1(DISP1):c.510-208C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276468	NM_001377229.1(DISP1):c.510-131dup	DISP1	Duplication (intron variant)	not provided	GBenign
Select item 1242292	NM_001377229.1(DISP1):c.510-132_510-131dup	DISP1	Duplication (intron variant)	not provided	GBenign
Select item 1250961	NM_001377229.1(DISP1):c.510-40C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1344950	NM_001377229.1(DISP1):c.539+60T>C	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187594	NM_001377229.1(DISP1):c.539+129T>C	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238426	NM_001377229.1(DISP1):c.539+202C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307846	NM_001377229.1(DISP1):c.540-10T>A	DISP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426518	NM_001377229.1(DISP1):c.543T>G (p.Tyr181Ter)	DISP1 (Y181*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1310958	NM_001377229.1(DISP1):c.600_601insAT (p.Val201fs)	DISP1 (V201fs)	Insertion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 426201	NM_001377229.1(DISP1):c.619G>C (p.Gly207Arg)	DISP1 (G207R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1276050	NM_001377229.1(DISP1):c.664-315A>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258882	NM_001377229.1(DISP1):c.791+85T>G	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262132	NM_001377229.1(DISP1):c.890-14T>C	DISP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1314032	NM_001377229.1(DISP1):c.943A>G (p.Asn315Asp)	DISP1 (N315D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229115	NM_001377229.1(DISP1):c.988-347G>A	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192166	NM_001377229.1(DISP1):c.988-231A>G	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308567	NM_001377229.1(DISP1):c.995C>T (p.Ser332Phe)	DISP1 (S332F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194983	NM_001377229.1(DISP1):c.1008del (p.Phe336fs)	DISP1 (F336fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1312894	NM_001377229.1(DISP1):c.1163A>G (p.His388Arg)	DISP1 (H145R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307783	NM_001377229.1(DISP1):c.1292T>C (p.Leu431Ser)	DISP1 (L188S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304654	NM_001377229.1(DISP1):c.1339C>T (p.Pro447Ser)	DISP1 (P204S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811580	NM_001377229.1(DISP1):c.1536G>A (p.Val512=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1194576	NM_001377229.1(DISP1):c.1613C>A (p.Ser538Tyr)	DISP1 (S295Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305875	NM_001377229.1(DISP1):c.1681A>G (p.Thr561Ala)	DISP1 (T318A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326383	NM_001377229.1(DISP1):c.1774G>A (p.Glu592Lys)	DISP1 (E349K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 439602	NM_001377229.1(DISP1):c.1950A>G (p.Thr650=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1311574	NM_001377229.1(DISP1):c.2065C>T (p.Gln689Ter)	DISP1 (Q446* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 381719	NM_001377229.1(DISP1):c.2202C>A (p.Tyr734Ter)	DISP1 (Y734* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 420957	NM_001377229.1(DISP1):c.2284G>C (p.Glu762Gln)	DISP1 (E762Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 726509	NM_001377229.1(DISP1):c.2439T>C (p.Asp813=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 420635	NM_001377229.1(DISP1):c.2456C>A (p.Ala819Asp)	DISP1 (A819D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200790	NM_001377229.1(DISP1):c.2477G>A (p.Trp826Ter)	DISP1 (W583* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 420839	NM_001377229.1(DISP1):c.2485C>T (p.His829Tyr)	DISP1 (H829Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307751	NM_001377229.1(DISP1):c.2549G>C (p.Ser850Thr)	DISP1 (S607T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 714953	NM_001377229.1(DISP1):c.2783A>G (p.Gln928Arg)	DISP1 (Q685R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 262128	NM_001377229.1(DISP1):c.2835A>G (p.Lys945=)	DISP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1305975	NM_001377229.1(DISP1):c.3097G>A (p.Glu1033Lys)	DISP1 (E1033K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421971	NM_001377229.1(DISP1):c.3104A>G (p.Asn1035Ser)	DISP1 (N1035S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306389	NM_001377229.1(DISP1):c.3157G>C (p.Ala1053Pro)	DISP1 (A1053P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452505	NM_001377229.1(DISP1):c.3202C>T (p.Arg1068Ter)	DISP1 (R1068* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 421540	NM_001377229.1(DISP1):c.3206A>G (p.Glu1069Gly)	DISP1 (E1069G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308448	NM_001377229.1(DISP1):c.3229A>G (p.Ser1077Gly)	DISP1 (S1077G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241865	NM_001377229.1(DISP1):c.3235G>A (p.Val1079Met)	DISP1 (V1079M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711058	NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr)	DISP1 (M1096T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1308245	NM_001377229.1(DISP1):c.3344T>C (p.Ile1115Thr)	DISP1 (I1115T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064558	NM_001377229.1(DISP1):c.3413del (p.Gly1138fs)	DISP1 (G1138fs +1 more)	Deletion (frameshift variant)	Microform holoprosencephaly +1 more	GUncertain significance
Select item 618593	NM_001377229.1(DISP1):c.3487A>G (p.Ser1163Gly)	DISP1 (S1163G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1307579	NM_001377229.1(DISP1):c.3652G>C (p.Glu1218Gln)	DISP1 (E1218Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312984	NM_001377229.1(DISP1):c.3701C>G (p.Ala1234Gly)	DISP1 (A1234G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489256	NM_001377229.1(DISP1):c.3705C>A (p.Tyr1235Ter)	DISP1 (Y1235* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1233576	NM_001377229.1(DISP1):c.3738C>T (p.Asp1246=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 811581	NM_001377229.1(DISP1):c.3739G>A (p.Ala1247Thr)	DISP1 (A1004T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 439601	NM_001377229.1(DISP1):c.3781G>A (p.Val1261Met)	DISP1 (V1261M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 262131	NM_001377229.1(DISP1):c.3822A>C (p.Pro1274=)	DISP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 746888	NM_001377229.1(DISP1):c.3931G>A (p.Gly1311Ser)	DISP1 (G1068S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1310108	NM_001377229.1(DISP1):c.3961G>A (p.Ala1321Thr)	DISP1 (A1078T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 418828	NM_001377229.1(DISP1):c.3990_3993del (p.His1331fs)	DISP1 (H1088fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 418161	NM_001377229.1(DISP1):c.4008del (p.Cys1337fs)	DISP1 (C1094fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1196937	NM_001377229.1(DISP1):c.4215G>A (p.Thr1405=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1181513	NC_000001.11:g.223006057A>C	DISP1	Single nucleotide variant	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 73