NGEF[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
Select item 58847	GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1	ACKR3, AGAP1 +393 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	LOC126806558, LOC126806559 +309 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 2384478	NM_019850.3(NGEF):c.2119C>T (p.Arg707Trp)	NGEF (R615W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600224	NM_019850.3(NGEF):c.2110C>A (p.Leu704Met)	NGEF (L704M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199053	NM_019850.3(NGEF):c.2062C>T (p.His688Tyr)	NGEF (H596Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199047	NM_019850.3(NGEF):c.2057G>A (p.Arg686His)	NGEF (R594H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199039	NM_019850.3(NGEF):c.1979G>A (p.Arg660Lys)	NGEF (R660K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593362	NM_019850.3(NGEF):c.1957G>A (p.Glu653Lys)	NGEF (E561K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239295	NM_019850.3(NGEF):c.1948A>C (p.Ile650Leu)	NGEF (I650L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299601	NM_019850.3(NGEF):c.1943G>A (p.Gly648Glu)	NGEF (G556E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258243	NM_019850.3(NGEF):c.1939G>A (p.Asp647Asn)	NGEF (D647N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327460	NM_019850.3(NGEF):c.1937A>T (p.Asp646Val)	NGEF (D554V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199025	NM_019850.3(NGEF):c.1631C>T (p.Pro544Leu)	NGEF (P452L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284713	NM_019850.3(NGEF):c.1497G>A (p.Met499Ile)	NGEF (M407I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199018	NM_019850.3(NGEF):c.1415A>G (p.Lys472Arg)	NGEF (K380R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526373	NM_019850.3(NGEF):c.1376G>A (p.Arg459Lys)	NGEF (R367K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199010	NM_019850.3(NGEF):c.1339C>G (p.Leu447Val)	NGEF (L355V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523672	NM_019850.3(NGEF):c.1312T>C (p.Cys438Arg)	NGEF (C346R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330697	NM_019850.3(NGEF):c.1259A>G (p.Lys420Arg)	NGEF (K328R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377762	NM_019850.3(NGEF):c.1175C>T (p.Ala392Val)	NGEF (A392V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463587	NM_019850.3(NGEF):c.1174G>A (p.Ala392Thr)	NGEF (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588867	NM_019850.3(NGEF):c.1163G>C (p.Arg388Pro)	NGEF (R388P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770514	NM_019850.3(NGEF):c.1149G>A (p.Glu383=)	NGEF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2281604	NM_019850.3(NGEF):c.1099G>A (p.Val367Ile)	NGEF (V367I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487902	NM_019850.3(NGEF):c.1054G>A (p.Val352Met)	NGEF (V260M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299603	NM_019850.3(NGEF):c.1007A>G (p.Glu336Gly)	NGEF (E244G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410805	NM_019850.3(NGEF):c.890C>T (p.Ser297Phe)	NGEF (S297F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548551	NM_019850.3(NGEF):c.619G>A (p.Gly207Arg)	NGEF (G115R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299602	NM_019850.3(NGEF):c.609C>A (p.Asp203Glu)	NGEF (D111E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199089	NM_019850.3(NGEF):c.605A>C (p.Glu202Ala)	NGEF (E202A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299604	NM_019850.3(NGEF):c.599A>G (p.Glu200Gly)	NGEF (E108G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527295	NM_019850.3(NGEF):c.590A>G (p.Gln197Arg)	NGEF (Q197R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593670	NM_019850.3(NGEF):c.562C>T (p.Leu188Phe)	NGEF (L96F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220696	NM_019850.3(NGEF):c.426G>C (p.Glu142Asp)	NGEF (E50D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199072	NM_019850.3(NGEF):c.421G>A (p.Glu141Lys)	NGEF (E141K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299605	NM_019850.3(NGEF):c.333G>A (p.Met111Ile)	NGEF (M111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387150	NM_019850.3(NGEF):c.247C>T (p.Arg83Trp)	NGEF (R83W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404562	NM_019850.3(NGEF):c.211C>T (p.Arg71Cys)	NGEF (R71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317057	NM_019850.3(NGEF):c.205A>G (p.Ile69Val)	NGEF (I69V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3199045	NM_019850.3(NGEF):c.200G>A (p.Arg67His)	NGEF (R67H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512216	NM_019850.3(NGEF):c.199C>T (p.Arg67Cys)	NGEF (R67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225189	NM_019850.3(NGEF):c.153A>C (p.Lys51Asn)	NGEF (K51N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198998	NM_019850.3(NGEF):c.118G>A (p.Glu40Lys)	NGEF (E40K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2575077	GRCh37/hg19 2q37.1(chr2:232563726-234136887)x3	ALPG, ALPI +19 more	Copy number gain	See cases	GUncertain significance
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	CHRND, CHRNG +93 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1450036	NC_000002.11:g.(?_233164730)_(234250992_?)dup	CHRND, ALPG +16 more	Duplication	not provided	GUncertain significance
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SPATA3, UGT1A3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	DTYMK, DUSP28 +96 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 393716	GRCh37/hg19 2q37.1(chr2:233055165-233763272)x3	ALPG, ALPI +13 more	Copy number gain	See cases	GUncertain significance

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Items: 78