ClinVar for Gene (Select 135458) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 109

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285089	NM_148959.4(HUS1B):c.762T>G (p.Ile254Met)	EXOC2, HUS1B (I254M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285088	NM_148959.4(HUS1B):c.279C>G (p.Ser93Arg)	EXOC2, HUS1B (S93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285087	NM_148959.4(HUS1B):c.482G>T (p.Arg161Leu)	EXOC2, HUS1B (R161L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285086	NM_148959.4(HUS1B):c.5A>C (p.Lys2Thr)	EXOC2, HUS1B (K2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285085	NM_148959.4(HUS1B):c.371G>A (p.Arg124His)	EXOC2, HUS1B (R124H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107645	NM_148959.4(HUS1B):c.70G>A (p.Ala24Thr)	EXOC2, HUS1B (A24T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107644	NM_148959.4(HUS1B):c.659A>T (p.Asn220Ile)	EXOC2, HUS1B (N220I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107643	NM_148959.4(HUS1B):c.631C>A (p.Pro211Thr)	EXOC2, HUS1B (P211T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107642	NM_148959.4(HUS1B):c.595T>C (p.Ser199Pro)	EXOC2, HUS1B (S199P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107641	NM_148959.4(HUS1B):c.479C>T (p.Pro160Leu)	EXOC2, HUS1B (P160L)	Single nucleotide variant (missense variant +1 more)	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 3062926	GRCh37/hg19 6p25.3(chr6:192543-1445812)x3	DUSP22, EXOC2 +4 more	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 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2613433	NM_148959.4(HUS1B):c.272C>A (p.Ala91Glu)	EXOC2, HUS1B (A91E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604554	NM_148959.4(HUS1B):c.439C>T (p.Pro147Ser)	EXOC2, HUS1B (P147S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2533805	NM_148959.4(HUS1B):c.404G>C (p.Arg135Pro)	EXOC2, HUS1B (R135P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527579	NM_148959.4(HUS1B):c.308A>T (p.Gln103Leu)	EXOC2, HUS1B (Q103L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512353	NM_148959.4(HUS1B):c.103C>G (p.Arg35Gly)	EXOC2, HUS1B (R35G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509729	NM_148959.4(HUS1B):c.678G>C (p.Met226Ile)	EXOC2, HUS1B (M226I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507650	NM_148959.4(HUS1B):c.732A>C (p.Gln244His)	EXOC2, HUS1B (Q244H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2459601	NM_148959.4(HUS1B):c.53A>T (p.His18Leu)	EXOC2, HUS1B (H18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408590	NM_148959.4(HUS1B):c.376C>G (p.Arg126Gly)	EXOC2, HUS1B (R126G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403172	NM_148959.4(HUS1B):c.769A>G (p.Asn257Asp)	EXOC2, HUS1B (N257D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380386	NM_148959.4(HUS1B):c.35G>C (p.Cys12Ser)	EXOC2, HUS1B (C12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377399	NM_148959.4(HUS1B):c.98G>A (p.Arg33His)	EXOC2, HUS1B (R33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373678	NM_148959.4(HUS1B):c.250G>T (p.Ala84Ser)	EXOC2, HUS1B (A84S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349789	NM_148959.4(HUS1B):c.111C>A (p.Asp37Glu)	EXOC2, HUS1B (D37E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324024	NM_148959.4(HUS1B):c.535G>A (p.Val179Met)	EXOC2, HUS1B (V179M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319727	NM_148959.4(HUS1B):c.503T>C (p.Ile168Thr)	EXOC2, HUS1B (I168T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305193	NM_148959.4(HUS1B):c.427C>T (p.Arg143Trp)	EXOC2, HUS1B (R143W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296154	NM_148959.4(HUS1B):c.29A>G (p.Lys10Arg)	EXOC2, HUS1B (K10R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292371	NM_148959.4(HUS1B):c.464C>G (p.Ala155Gly)	EXOC2, HUS1B (A155G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284978	NM_148959.4(HUS1B):c.128C>G (p.Pro43Arg)	EXOC2, HUS1B (P43R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248129	NM_148959.4(HUS1B):c.422T>A (p.Val141Glu)	EXOC2, HUS1B (V141E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212071	NM_148959.4(HUS1B):c.148C>T (p.His50Tyr)	EXOC2, HUS1B (H50Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209059	NM_148959.4(HUS1B):c.53A>C (p.His18Pro)	EXOC2, HUS1B (H18P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208145	NM_148959.4(HUS1B):c.676A>G (p.Met226Val)	EXOC2, HUS1B (M226V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810399	GRCh37/hg19 6p25.3(chr6:160000-820000)x1	DUSP22, EXOC2 +2 more	Copy number loss	See cases	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 1808084	GRCh37/hg19 6p25.3(chr6:381086-1144691)x1	EXOC2, HUS1B +1 more	Copy number loss	not provided	GUncertain significance
Select item 1696509	NM_018303.6(EXOC2):c.-43-18972_-43-18956del	EXOC2, HUS1B (S38fs)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	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 1527212	GRCh37/hg19 6p25.3-25.2(chr6:383951-3898619)	BPHL, EXOC2 +20 more	Copy number loss	not specified	GPathogenic
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 1178804	NM_018303.6(EXOC2):c.-43-18694C>A	EXOC2, HUS1B (H130Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 814769	GRCh37/hg19 6p25.3(chr6:614445-859115)x3	EXOC2, HUS1B	Copy number gain	not provided	GLikely benign
Select item 814768	GRCh37/hg19 6p25.3(chr6:378555-687754)x3	IRF4, EXOC2 +1 more	Copy number gain	not provided	GLikely benign
Select item 814767	GRCh37/hg19 6p25.3(chr6:156974-2208360)x1	HUS1B, EXOC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 792029	NM_148959.4(HUS1B):c.406G>T (p.Val136Leu)	EXOC2, HUS1B (V136L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768058	NM_148959.4(HUS1B):c.529A>G (p.Ser177Gly)	EXOC2, HUS1B (S177G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732647	NM_148959.4(HUS1B):c.264C>T (p.Ser88=)	EXOC2, HUS1B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 563142	GRCh37/hg19 6p25.3(chr6:514917-1136513)x3	HUS1B, EXOC2	Copy number gain	not provided	GLikely benign
Select item 563141	GRCh37/hg19 6p25.3(chr6:462405-866857)x3	EXOC2, HUS1B	Copy number gain	not provided	GLikely benign
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 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 441555	GRCh37/hg19 6p25.3(chr6:156974-2030623)x1	DUSP22, EXOC2 +6 more	Copy number loss	See cases	GPathogenic
Select item 393836	GRCh37/hg19 6p25.3(chr6:525487-780702)x3	EXOC2, HUS1B	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 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 151605	GRCh38/hg38 6p25.3(chr6:170426-1621983)x1	LOC129995588, LOC129995589 +110 more	Copy number loss	See cases	GPathogenic
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 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
Select item 149126	GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1	BPHL, DUSP22 +213 more	Copy number loss	See cases	GPathogenic
Select item 148422	GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1	BPHL, C6orf201 +289 more	Copy number loss	See cases	GPathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 146366	GRCh38/hg38 6p25.3(chr6:163083-1365190)x1	DUSP22, EXOC2 +97 more	Copy number loss	See cases	GUncertain significance
Select item 146312	GRCh38/hg38 6p25.3(chr6:163083-2029531)x3	DUSP22, EXOC2 +120 more	Copy number gain	See cases	GPathogenic
Select item 144907	GRCh38/hg38 6p25.3(chr6:490850-700078)x3	EXOC2, HUS1B +7 more	Copy number gain	See cases	GBenign
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58410	GRCh38/hg38 6p25.3-25.1(chr6:164633-5823601)x1	BPHL, C6orf201 +302 more	Copy number loss	See cases	GPathogenic
Select item 58409	GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1	BPHL, C6orf201 +312 more	Copy number loss	See cases	GPathogenic

<< First< Prev

Page of 2