DISP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	AIDA, BROX +84 more	Copy number loss	See cases	GPathogenic
Select item 148650	GRCh38/hg38 1q41(chr1:221979950-223007060)x3	AIDA, BROX +34 more	Copy number gain	See cases	GUncertain significance
Select item 146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	AIDA, BROX +35 more	Copy number loss	See cases	GLikely pathogenic
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 2300159	NM_001377229.1(DISP1):c.7A>G (p.Met3Val)	DISP1 (M3V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2819279	NM_001377229.1(DISP1):c.34_37del (p.Val11_Val12insTer)	DISP1	Deletion (nonsense +1 more)	not provided	GUncertain significance
Select item 763967	NM_001377229.1(DISP1):c.51C>T (p.Ser17=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2134866	NM_001377229.1(DISP1):c.52A>T (p.Ile18Phe)	DISP1 (I18F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1583673	NM_001377229.1(DISP1):c.54C>T (p.Ile18=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1905823	NM_001377229.1(DISP1):c.56C>T (p.Ala19Val)	DISP1 (A19V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2157176	NM_001377229.1(DISP1):c.62G>A (p.Ser21Asn)	DISP1 (S21N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 3054821	NM_001377229.1(DISP1):c.81C>G (p.Pro27=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	DISP1-related disorder	GLikely benign
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 2688936	NM_001377229.1(DISP1):c.179G>T (p.Gly60Val)	DISP1 (G60V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3082584	NM_001377229.1(DISP1):c.182C>T (p.Thr61Met)	DISP1 (T61M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2168395	NM_001377229.1(DISP1):c.183G>A (p.Thr61=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 723056	NM_001377229.1(DISP1):c.186C>G (p.Val62=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2538101	NM_001377229.1(DISP1):c.213C>A (p.Asn71Lys)	DISP1 (N71K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2974026	NM_001377229.1(DISP1):c.229A>C (p.Met77Leu)	DISP1 (M77L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 747634	NM_001377229.1(DISP1):c.275C>G (p.Thr92Ser)	DISP1 (T92S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2049879	NM_001377229.1(DISP1):c.281A>G (p.His94Arg)	DISP1 (H94R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1333163	NM_001377229.1(DISP1):c.307_309delinsAAT (p.Glu103Asn)	DISP1 (E103N)	Indel (5 prime UTR variant +1 more)	not provided	GBenign
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 provided +1 more	GBenign
Select item 1372506	NM_001377229.1(DISP1):c.322G>A (p.Ala108Thr)	DISP1 (A108T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
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 1499747	NM_001377229.1(DISP1):c.341C>T (p.Ser114Leu)	DISP1 (S114L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1981939	NM_001377229.1(DISP1):c.342G>A (p.Ser114=)	DISP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2228096	NM_001377229.1(DISP1):c.349A>G (p.Met117Val)	DISP1 (M117V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2381716	NM_001377229.1(DISP1):c.413C>A (p.Thr138Lys)	DISP1 (T138K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 774805	NM_001377229.1(DISP1):c.414G>A (p.Thr138=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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 2114849	NM_001377229.1(DISP1):c.472C>T (p.Gln158Ter)	DISP1 (Q158*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2989021	NM_001377229.1(DISP1):c.496A>G (p.Ile166Val)	DISP1 (I166V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2993680	NM_001377229.1(DISP1):c.509+11C>G	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1564399	NM_001377229.1(DISP1):c.509+12G>A	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1556817	NM_001377229.1(DISP1):c.509+15del	DISP1	Deletion (intron variant)	not provided	GLikely benign
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 2981040	NM_001377229.1(DISP1):c.510-16C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940147	NM_001377229.1(DISP1):c.510-5_510-4dup	DISP1	Duplication (intron variant)	not provided	GBenign
Select item 1925584	NM_001377229.1(DISP1):c.510-15T>C	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605922	NM_001377229.1(DISP1):c.510-4del	DISP1	Deletion (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 792929	NM_001377229.1(DISP1):c.558C>T (p.Ala186=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 439600	NM_001377229.1(DISP1):c.559G>A (p.Asp187Asn)	DISP1 (D187N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1334043	NM_001377229.1(DISP1):c.566C>T (p.Pro189Leu)	DISP1 (P189L)	Single nucleotide variant (5 prime UTR variant +1 more)	Microform holoprosencephaly	GUncertain significance
Select item 2032162	NM_001377229.1(DISP1):c.573G>T (p.Val191=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2104211	NM_001377229.1(DISP1):c.583A>G (p.Met195Val)	DISP1 (M195V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2239723	NM_001377229.1(DISP1):c.597C>G (p.Phe199Leu)	DISP1 (F199L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
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 1411078	NM_001377229.1(DISP1):c.601G>A (p.Val201Ile)	DISP1 (V201I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2634693	NM_001377229.1(DISP1):c.617T>G (p.Val206Gly)	DISP1 (V206G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	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 798304	NM_001377229.1(DISP1):c.657A>G (p.Pro219=)	DISP1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1276050	NM_001377229.1(DISP1):c.664-315A>T	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2836390	NM_001377229.1(DISP1):c.664-2A>G	DISP1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1334044	NM_001377229.1(DISP1):c.664G>A (p.Gly222Ser)	DISP1 (G222S)	Single nucleotide variant (5 prime UTR variant +1 more)	Microform holoprosencephaly	GUncertain significance
Select item 2231199	NM_001377229.1(DISP1):c.718A>G (p.Met240Val)	DISP1 (M240V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2559655	NM_001377229.1(DISP1):c.721G>A (p.Val241Met)	DISP1 (V241M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1504483	NM_001377229.1(DISP1):c.739A>G (p.Lys247Glu)	DISP1 (K247E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 397657	NM_001377229.1(DISP1):c.743C>T (p.Ala248Val)	DISP1 (A248V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1258882	NM_001377229.1(DISP1):c.791+85T>G	DISP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2688938	NM_001377229.1(DISP1):c.807_810dup (p.Ser271fs)	DISP1 (S271fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2263793	NM_001377229.1(DISP1):c.805A>G (p.Arg269Gly)	DISP1 (R26G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082595	NM_001377229.1(DISP1):c.830G>A (p.Arg277Lys)	DISP1 (R277K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3023972	NM_001377229.1(DISP1):c.840A>G (p.Arg280=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1349405	NM_001377229.1(DISP1):c.856T>C (p.Phe286Leu)	DISP1 (F43L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2554829	NM_001377229.1(DISP1):c.860A>T (p.His287Leu)	DISP1 (H287L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 766497	NM_001377229.1(DISP1):c.879C>T (p.Cys293=)	DISP1	Single nucleotide variant (synonymous variant)	DISP1-related disorder +1 more	GLikely benign
Select item 3022438	NM_001377229.1(DISP1):c.882C>T (p.Asp294=)	DISP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065793	NM_001377229.1(DISP1):c.890-18T>C	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262132	NM_001377229.1(DISP1):c.890-14T>C	DISP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1709308	NM_001377229.1(DISP1):c.895C>T (p.Arg299Ter)	DISP1 (R299* +1 more)	Single nucleotide variant (nonsense)	Holoprosencephaly 7	GUncertain significance
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 2169858	NM_001377229.1(DISP1):c.988-10A>C	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896889	NM_001377229.1(DISP1):c.988-6C>T	DISP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325509	NM_001377229.1(DISP1):c.992G>C (p.Arg331Thr)	DISP1 (R331T +1 more)	Single nucleotide variant (missense variant)	DISP1-related Holoprosencephaly	GUncertain significance
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 2534893	NM_001377229.1(DISP1):c.1022A>G (p.Gln341Arg)	DISP1 (Q98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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