ClinVar for Gene (Select 163732) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145182	NM_133467.3(CITED4):c.8A>G (p.Asp3Gly)	CITED4 (D3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145181	NM_133467.3(CITED4):c.50C>T (p.Pro17Leu)	CITED4 (P17L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145180	NM_133467.3(CITED4):c.406C>G (p.Leu136Val)	CITED4 (L136V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145179	NM_133467.3(CITED4):c.337C>T (p.Pro113Ser)	CITED4 (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145178	NM_133467.3(CITED4):c.274G>C (p.Val92Leu)	CITED4 (V92L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145177	NM_133467.3(CITED4):c.263A>C (p.His88Pro)	CITED4 (H88P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145176	NM_133467.3(CITED4):c.256A>G (p.Ile86Val)	CITED4 (I86V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145175	NM_133467.3(CITED4):c.149C>T (p.Pro50Leu)	CITED4 (P50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2591822	NM_133467.3(CITED4):c.53C>G (p.Pro18Arg)	CITED4 (P18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538558	NM_133467.3(CITED4):c.65C>G (p.Ala22Gly)	CITED4 (A22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531516	NM_133467.3(CITED4):c.475G>A (p.Glu159Lys)	CITED4 (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527639	NM_133467.3(CITED4):c.545T>G (p.Val182Gly)	CITED4 (V182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526310	NM_133467.3(CITED4):c.161C>T (p.Pro54Leu)	CITED4 (P54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519366	NM_133467.3(CITED4):c.98C>T (p.Pro33Leu)	CITED4 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492835	NM_133467.3(CITED4):c.463C>T (p.Arg155Cys)	CITED4 (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471134	NM_133467.3(CITED4):c.278C>A (p.Ala93Glu)	CITED4 (A93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425202	NC_000001.10:g.(?_41249766)_(41475917_?)dup	CITED4, CTPS1 +1 more	Duplication	not provided	GUncertain significance
Select item 2374878	NM_133467.3(CITED4):c.41T>G (p.Val14Gly)	CITED4 (V14G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366366	NM_133467.3(CITED4):c.74G>T (p.Gly25Val)	CITED4 (G25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366365	NM_133467.3(CITED4):c.73G>T (p.Gly25Cys)	CITED4 (G25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311839	NM_133467.3(CITED4):c.284C>G (p.Pro95Arg)	CITED4 (P95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305495	NM_133467.3(CITED4):c.238C>G (p.Pro80Ala)	CITED4 (P80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301071	NM_133467.3(CITED4):c.346G>A (p.Ala116Thr)	CITED4 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297882	NM_133467.3(CITED4):c.176C>A (p.Pro59His)	CITED4 (P59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233764	NM_133467.3(CITED4):c.341A>C (p.Gln114Pro)	CITED4 (Q114P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 565087	GRCh37/hg19 1p34.2(chr1:41305658-41411087)x1	CITED4, KCNQ4	Copy number loss	not provided	GUncertain significance
Select item 442493	GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1	CITED4, EXO5 +5 more	Copy number loss	See cases	GUncertain significance
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 394139	GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3	CITED4, CTPS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 154142	GRCh38/hg38 1p34.2(chr1:40834404-43123071)x1	C1orf50, CCDC30 +142 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 57093	GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1	ARTN, ATP6V0B +253 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 43