ClinVar for Gene (Select 2762) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281699	NM_001500.4(GMDS):c.952A>G (p.Thr318Ala)	GMDS (T288A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281698	NM_001500.4(GMDS):c.442G>A (p.Val148Met)	GMDS (V148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281697	NM_001500.4(GMDS):c.49G>A (p.Gly17Ser)	GMDS (G17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281696	NM_001500.4(GMDS):c.655G>A (p.Val219Ile)	GMDS (V189I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100462	NM_001500.4(GMDS):c.374C>T (p.Ala125Val)	GMDS (A95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100461	NM_001500.4(GMDS):c.227T>C (p.Ile76Thr)	GMDS (I76T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100459	NM_001500.4(GMDS):c.1098G>A (p.Met366Ile)	GMDS (M366I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100458	NM_001500.4(GMDS):c.1087G>A (p.Val363Met)	GMDS (V333M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3062921	GRCh37/hg19 6p25.3-25.2(chr6:1479303-2693757)x3	FOXC1, GMDS +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062906	GRCh37/hg19 6p25.3(chr6:1562445-1646030)x1	FOXC1, GMDS	Copy number loss	not specified	GPathogenic
Select item 3062879	GRCh37/hg19 6p25.3(chr6:1527438-2021057)x3	FOXC1, GMDS	Copy number gain	not specified	GUncertain significance
Select item 3062878	GRCh37/hg19 6p25.3(chr6:1593074-1660677)x3	FOXC1, GMDS	Copy number gain	not specified	GUncertain significance
Select item 2685193	GRCh37/hg19 6p25.3(chr6:647204-1716710)x1	EXOC2, FOXC1 +4 more	Copy number loss	not provided	GPathogenic
Select item 2685192	GRCh37/hg19 6p25.3(chr6:156975-2072578)x1	DUSP22, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 2684440	GRCh37/hg19 6p25.3(chr6:1286450-1645873)x3	FOXC1, FOXF2 +2 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2656175	NM_001500.4(GMDS):c.804G>A (p.Pro268=)	GMDS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2618510	NM_001500.4(GMDS):c.362C>T (p.Ala121Val)	GMDS (A121V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2506536	GRCh37/hg19 6p25.3(chr6:491126-1624775)	EXOC2, FOXC1 +4 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 2496172	NM_001500.4(GMDS):c.389T>C (p.Val130Ala)	GMDS (V100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495360	NM_001500.4(GMDS):c.874A>G (p.Ile292Val)	GMDS (I262V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485843	NM_001500.4(GMDS):c.554A>G (p.Tyr185Cys)	GMDS (Y155C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479158	NM_001500.4(GMDS):c.26C>T (p.Pro9Leu)	GMDS (P9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408958	NM_001500.4(GMDS):c.803C>T (p.Pro268Leu)	GMDS (P238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296254	NM_001500.4(GMDS):c.163C>T (p.Arg55Trp)	GMDS (R25W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275169	NM_001500.4(GMDS):c.166C>T (p.Arg56Trp)	GMDS (R56W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1808989	GRCh37/hg19 6p25.3(chr6:1916017-2150008)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 1808724	GRCh37/hg19 6p25.3-25.2(chr6:156975-3718881)x1	BPHL, DUSP22 +19 more	Copy number loss	not provided	GPathogenic
Select item 1808377	GRCh37/hg19 6p25.3-25.2(chr6:2162500-2864248)x3	GMDS, LINC01600 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1676308	GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1	BPHL, EXOC2 +18 more	Copy number loss	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 1527214	GRCh37/hg19 6p25.3(chr6:1527437-1764940)	FOXC1, GMDS	Copy number gain	not specified	GUncertain significance
Select item 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
Select item 1340917	GRCh37/hg19 6p25.3(chr6:1440644-1695652)x3	FOXC1, GMDS	Copy number gain	not provided	GUncertain significance
Select item 1340497	GRCh37/hg19 6p25.3(chr6:1705438-1767134)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 1340369	GRCh37/hg19 6p25.3(chr6:1397495-1927651)x3	FOXC1, GMDS	Copy number gain	not provided	GUncertain significance
Select item 1180550	GRCh37/hg19 6p25.3-25.2(chr6:149619-3951208)x3	BPHL, DUSP22 +21 more	Copy number gain	not provided	GPathogenic
Select item 983174	GRCh37/hg19 6p25.3(chr6:152849-1888703)x1	FOXC1, FOXF2 +6 more	Copy number loss	See cases	GPathogenic
Select item 980203	GRCh37/hg19 6p25.3-25.2(chr6:302183-3290583)x3	TUBB2A, DUSP22 +19 more	Copy number gain	not provided	GPathogenic
Select item 980202	GRCh37/hg19 6p25.3-25.2(chr6:2094762-2376301)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 973777	GRCh37/hg19 6p25.3(chr6:1347995-1713458)x3	FOXC1, FOXF2 +2 more	Copy number gain	Late onset congenital glaucoma	GPathogenic
Select item 973776	GRCh37/hg19 6p25.3(chr6:1318643-1837594)x3	FOXC1, FOXF2 +2 more	Copy number gain	Anterior segment dysgenesis 3	GPathogenic
Select item 814773	GRCh37/hg19 6p25.3-25.2(chr6:2167407-2775133)x3	WRNIP1, MYLK4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814772	GRCh37/hg19 6p25.3-25.2(chr6:2058918-2362369)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 814771	GRCh37/hg19 6p25.3(chr6:1949490-1999263)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 814767	GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	HUS1B, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 813838	GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1	GMDS	Copy number loss	Intellectual disability +1 more	GUncertain significance
Select item 688851	GRCh37/hg19 6p25.3-25.2(chr6:2129442-2500820)x3	GMDS	Copy number gain	not provided	GUncertain significance
Select item 687645	GRCh37/hg19 6p25.3(chr6:2113808-2188830)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 687230	GRCh37/hg19 6p25.3(chr6:1910715-2150669)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 563147	GRCh37/hg19 6p25.3-25.2(chr6:2162499-2624262)x3	LINC01600, GMDS	Copy number gain	not provided	GUncertain significance
Select item 563146	GRCh37/hg19 6p25.3-25.2(chr6:1920928-2489477)x3	GMDS	Copy number gain	not provided	GLikely benign
Select item 563145	GRCh37/hg19 6p25.3(chr6:1875823-1964471)x1	GMDS	Copy number loss	not provided	GUncertain significance
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 563138	GRCh37/hg19 6p25.3-25.2(chr6:156974-3398920)x1	HUS1B, SERPINB6 +19 more	Copy number loss	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443604	GRCh37/hg19 6p25.3(chr6:1703078-1918006)x1	GMDS	Copy number loss	See cases	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443199	GRCh37/hg19 6p25.3-25.2(chr6:383951-4183288)x1	BPHL, C6orf201 +24 more	Copy number loss	See cases	GPathogenic
Select item 442601	GRCh37/hg19 6p25.3(chr6:195229-2117379)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 442393	GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1	BPHL, C6orf201 +33 more	Copy number loss	See cases	GPathogenic
Select item 442040	GRCh37/hg19 6p25.3-25.1(chr6:2109893-5962832)x1	PXDC1, RIPK1 +24 more	Copy number loss	See cases	GPathogenic
Select item 441966	GRCh37/hg19 6p25.3(chr6:1305572-1825339)x3	FOXC1, FOXF2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 441731	GRCh37/hg19 6p25.3-25.2(chr6:2209050-3009366)x3	GMDS, LINC01600 +6 more	Copy number gain	See cases	GLikely benign
Select item 441555	GRCh37/hg19 6p25.3(chr6:156974-2030623)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 395327	GRCh37/hg19 6p25.3(chr6:1600137-1864876)x1	FOXC1, GMDS	Copy number loss	See cases	GPathogenic
Select item 395232	GRCh37/hg19 6p25.3-25.2(chr6:1490872-2667350)x3	FOXC1, GMDS +2 more	Copy number gain	See cases	GPathogenic
Select item 395026	GRCh37/hg19 6p25.3(chr6:815829-1825305)x3	FOXC1, FOXF2 +2 more	Copy number gain	See cases	GPathogenic
Select item 375434	GRCh37/hg19 6p25.3(chr6:951385-1832936)x3	GMDS, FOXC1 +2 more	Copy number gain	Axenfeld-Rieger syndrome type 3	GPathogenic
Select item 267200	NC_000006.10:g.1543591_1675085del131495	FOXC1, GMDS	Deletion	Congenital aniridia	GPathogenic
Select item 253932	GRCh37/hg19 6p25.3-25.2(chr6:2101382-2769146)x3	GMDS, LINC01600 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253658	GRCh37/hg19 6p25.3(chr6:180959-2180143)x1	IRF4, GMDS +6 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253456	GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1	PPP1R3G, BPHL +33 more	Copy number loss	See cases	GPathogenic
Select item 242978	GRCh37/hg19 6p25.3-25.2(chr6:255350-3189972)x3	GMDS, DUSP22 +16 more	Copy number gain	Brachydactyly type E1	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 155308	GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3	LOC129995586, LOC129995587 +257 more	Copy number gain	See cases	GUncertain significance
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 155123	GRCh38/hg38 6p25.3(chr6:1768205-2246547)x1	GMDS, GMDS-DT +8 more	Copy number loss	See cases	GUncertain significance
Select item 154994	GRCh38/hg38 6p25.3(chr6:1365202-1627578)x3	FOXC1, FOXCUT +14 more	Copy number gain	See cases	GUncertain significance
Select item 154849	GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1	BPHL, C6orf201 +314 more	Copy number loss	See cases	GPathogenic
Select item 154201	GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1	LOC123575648, LOC123575649 +257 more	Copy number loss	See cases	GPathogenic
Select item 154194	GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1	BPHL, C6orf201 +347 more	Copy number loss	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 153811	GRCh38/hg38 6p25.3-25.2(chr6:1943429-2507158)x3	GMDS, GMDS-DT +6 more	Copy number gain	See cases	GLikely benign
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 150317	GRCh38/hg38 6p25.3-25.2(chr6:1490637-2677489)x3	FOXC1, FOXCUT +24 more	Copy number gain	See cases	GUncertain significance
Select item 149755	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1	LOC129995664, LOC129995665 +309 more	Copy number loss	See cases	GPathogenic
Select item 149754	GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3	BPHL, C6orf201 +309 more	Copy number gain	See cases	GLikely pathogenic

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