ClinVar for Gene (Select 9453) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281313	NM_004837.4(GGPS1):c.511G>A (p.Glu171Lys)	GGPS1 (E117K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3238816	NM_004837.4(GGPS1):c.170A>G (p.His57Arg)	GGPS1 (H3R +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GUncertain significance
Select item 3238792	NM_004837.4(GGPS1):c.400G>A (p.Asp134Asn)	GGPS1 (D134N +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GUncertain significance
Select item 3233259	NM_004837.4(GGPS1):c.770T>G (p.Phe257Cys)	GGPS1 (F203C +1 more)	Single nucleotide variant (missense variant)	Myopathy with tubular aggregates	GLikely pathogenic
Select item 3099623	NM_004837.4(GGPS1):c.788C>A (p.Thr263Asn)	GGPS1 (T209N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099621	NM_004837.4(GGPS1):c.49A>G (p.Lys17Glu)	GGPS1 (K17E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099620	NM_004837.4(GGPS1):c.236C>A (p.Ala79Asp)	GGPS1 (A25D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 2342394	NM_004837.4(GGPS1):c.727A>G (p.Ile243Val)	GGPS1 (I189V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336209	NM_004837.4(GGPS1):c.44C>T (p.Pro15Leu)	GGPS1 (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224787	NM_004837.4(GGPS1):c.596G>A (p.Ser199Asn)	GGPS1 (S145N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1878661	NM_004837.4(GGPS1):c.764G>A (p.Gly255Asp)	GGPS1 (G201D +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1808508	GRCh37/hg19 1q42.3(chr1:235429692-235654624)x4	ARID4B, B3GALNT2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1232305	NM_004837.4(GGPS1):c.854T>G (p.Val285Gly)	GGPS1 (V231G +1 more)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1232303	NM_004837.4(GGPS1):c.43C>T (p.Pro15Ser)	GGPS1	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1232302	NM_004837.4(GGPS1):c.776A>G (p.Tyr259Cys)	GGPS1 (Y205C)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1232301	NM_004837.4(GGPS1):c.781C>G (p.Arg261Gly)	GGPS1 (R207G)	Single nucleotide variant (missense variant)	Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	GPathogenic
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 869201	NM_004837.4(GGPS1):c.269A>G (p.Asn90Ser)	GGPS1 (N36S +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +1 more	GUncertain significance
Select item 869200	NM_004837.4(GGPS1):c.782G>A (p.Arg261His)	GGPS1 (R207H +1 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +3 more	GConflicting classifications of pathogenicity
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814181	GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1	SLC35F3, TARBP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 685791	GRCh37/hg19 1q42.3(chr1:235347794-235749391)x3	ARID4B, B3GALNT2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 441651	GRCh37/hg19 1q42.2-43(chr1:234605553-240932205)x1	ACTN2, ARID4B +23 more	Copy number loss	See cases	GPathogenic
Select item 394405	GRCh37/hg19 1q42.3(chr1:235487576-235679527)x3	ARID4B, B3GALNT2 +2 more	Copy number gain	See cases	GUncertain significance
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 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 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 147069	GRCh38/hg38 1q42.3(chr1:234802578-235914149)x3	ARID4B, B3GALNT2 +75 more	Copy number gain	See cases	GUncertain significance
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 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 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	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 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72