3387[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 524186	t(1;3)(q21.1;p11.1)dn	EPHA3, PDE4DIP	Translocation	not specified	GUncertain significance
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 153529	GRCh38/hg38 3p13-11.1(chr3:73824871-90453699)x1	C3orf38, CADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 155598	GRCh38/hg38 3p12.3-11.1(chr3:74649382-89495681)x1	C3orf38, CADM2 +118 more	Copy number loss	See cases	GPathogenic
Select item 146400	GRCh38/hg38 3p12.3-11.1(chr3:76764260-89682935)x1	C3orf38, CADM2 +89 more	Copy number loss	See cases	GLikely pathogenic
Select item 57802	GRCh38/hg38 3p12.2-11.1(chr3:82912987-90179222)x1	C3orf38, CADM2 +54 more	Copy number loss	See cases	GPathogenic
Select item 2403192	NM_005233.6(EPHA3):c.49G>C (p.Asp17His)	EPHA3 (D17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275909	NM_005233.6(EPHA3):c.61G>A (p.Glu21Lys)	EPHA3 (E21K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057804	NM_005233.6(EPHA3):c.72G>T (p.Pro24=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 2455826	NM_005233.6(EPHA3):c.135C>G (p.Ile45Met)	EPHA3 (I45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089581	NM_005233.6(EPHA3):c.338T>C (p.Leu113Ser)	EPHA3 (L113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536411	NM_005233.6(EPHA3):c.568G>A (p.Val190Ile)	EPHA3 (V190I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222688	NM_005233.6(EPHA3):c.631A>G (p.Met211Val)	EPHA3 (M211V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386774	NM_005233.6(EPHA3):c.698A>G (p.Asn233Ser)	EPHA3 (N233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740302	NM_005233.6(EPHA3):c.744C>T (p.Gly248=)	EPHA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3275913	NM_005233.6(EPHA3):c.802T>C (p.Phe268Leu)	EPHA3 (F268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 156874	Single allele	EPHA3	Deletion	Normal pregnancy +1 more	Gnot provided
Select item 3059008	NM_005233.6(EPHA3):c.841T>C (p.Leu281=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 3051553	NM_005233.6(EPHA3):c.892G>C (p.Glu298Gln)	EPHA3 (E298Q)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 3275910	NM_005233.6(EPHA3):c.899G>C (p.Gly300Ala)	EPHA3 (G300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511102	NM_005233.6(EPHA3):c.919G>A (p.Glu307Lys)	EPHA3 (E307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475306	NM_005233.6(EPHA3):c.1090A>C (p.Lys364Gln)	EPHA3 (K364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089569	NM_005233.6(EPHA3):c.1130G>A (p.Ser377Asn)	EPHA3 (S377N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089570	NM_005233.6(EPHA3):c.1280C>T (p.Ala427Val)	EPHA3 (A427V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653989	NM_005233.6(EPHA3):c.1281G>A (p.Ala427=)	EPHA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2397744	NM_005233.6(EPHA3):c.1325C>T (p.Thr442Met)	EPHA3 (T442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089571	NM_005233.6(EPHA3):c.1411G>C (p.Glu471Gln)	EPHA3 (E471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275915	NM_005233.6(EPHA3):c.1426G>A (p.Glu476Lys)	EPHA3 (E476K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042863	NM_005233.6(EPHA3):c.1432-7C>T	EPHA3	Single nucleotide variant (intron variant)	EPHA3-related disorder	GLikely benign
Select item 3089572	NM_005233.6(EPHA3):c.1574A>T (p.Glu525Val)	EPHA3 (E525V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717834	NM_005233.6(EPHA3):c.1626G>A (p.Val542=)	EPHA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364882	NM_005233.6(EPHA3):c.1648G>C (p.Ala550Pro)	EPHA3 (A550P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275912	NM_005233.6(EPHA3):c.1669A>C (p.Thr557Pro)	EPHA3 (T557P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290711	NM_005233.6(EPHA3):c.1691T>C (p.Ile564Thr)	EPHA3 (I564T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089573	NM_005233.6(EPHA3):c.1757G>A (p.Gly586Glu)	EPHA3 (G586E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089574	NM_005233.6(EPHA3):c.1768C>T (p.Leu590Phe)	EPHA3 (L590F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089575	NM_005233.6(EPHA3):c.1775G>A (p.Gly592Asp)	EPHA3 (G592D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709663	NM_005233.6(EPHA3):c.1789G>A (p.Val597Ile)	EPHA3 (V597I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 997899	NM_005233.6(EPHA3):c.1915C>A (p.Arg639Ser)	EPHA3 (R639S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058030	NM_005233.6(EPHA3):c.1944T>C (p.Ile648=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 2544903	NM_005233.6(EPHA3):c.1954A>C (p.Ile652Leu)	EPHA3 (I652L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089576	NM_005233.6(EPHA3):c.2003T>C (p.Leu668Pro)	EPHA3 (L668P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228214	NM_005233.6(EPHA3):c.2051G>A (p.Arg684Gln)	EPHA3 (R684Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258056	NM_005233.6(EPHA3):c.2074+1G>T	EPHA3	Single nucleotide variant (splice donor variant)	Neoplasm	OUncertain significance
Select item 3275911	NM_005233.6(EPHA3):c.2083G>C (p.Val695Leu)	EPHA3 (V695L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089577	NM_005233.6(EPHA3):c.2087T>C (p.Met696Thr)	EPHA3 (M696T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089578	NM_005233.6(EPHA3):c.2134C>T (p.Arg712Cys)	EPHA3 (R712C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049991	NM_005233.6(EPHA3):c.2138A>C (p.Lys713Thr)	EPHA3 (K713T)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 3258057	NM_005233.6(EPHA3):c.2234G>A (p.Arg745Gln)	EPHA3 (R745Q)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 2482747	NM_005233.6(EPHA3):c.2275G>A (p.Val759Met)	EPHA3 (V759M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735118	NM_005233.6(EPHA3):c.2330C>G (p.Ala777Gly)	EPHA3 (A777G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3056783	NM_005233.6(EPHA3):c.2400G>A (p.Lys800=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GBenign
Select item 3040979	NM_005233.6(EPHA3):c.2402T>A (p.Phe801Tyr)	EPHA3 (F801Y)	Single nucleotide variant (missense variant)	EPHA3-related disorder	GLikely benign
Select item 2589226	NM_005233.6(EPHA3):c.2536C>G (p.Pro846Ala)	EPHA3 (P846A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275914	NM_005233.6(EPHA3):c.2644A>T (p.Ile882Phe)	EPHA3 (I882F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035334	NM_005233.6(EPHA3):c.2649G>A (p.Arg883=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GLikely benign
Select item 2512206	NM_005233.6(EPHA3):c.2656G>T (p.Gly886Cys)	EPHA3 (G886C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089579	NM_005233.6(EPHA3):c.2684C>T (p.Ala895Val)	EPHA3 (A895V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730083	NM_005233.6(EPHA3):c.2685C>T (p.Ala895=)	EPHA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3038386	NM_005233.6(EPHA3):c.2721T>C (p.Asn907=)	EPHA3	Single nucleotide variant (synonymous variant)	EPHA3-related disorder	GBenign
Select item 3089580	NM_005233.6(EPHA3):c.2780A>G (p.His927Arg)	EPHA3 (H927R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055487	NM_005233.6(EPHA3):c.2802T>C (p.Gly934=)	EPHA3	Single nucleotide variant (synonymous variant +1 more)	EPHA3-related disorder	GBenign
Select item 2259876	NM_005233.6(EPHA3):c.2872G>A (p.Val958Met)	EPHA3 (V958M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406479	NM_005233.6(EPHA3):c.2924A>G (p.Gln975Arg)	EPHA3 (Q975R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676304	GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3	ARL13B, ARL6 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 1341090	GRCh37/hg19 3p11.1(chr3:88159133-90502849)x1	C3orf38, CGGBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814463	GRCh37/hg19 3p11.1(chr3:89369130-90485949)x4	EPHA3	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 394321	GRCh37/hg19 3p11.1(chr3:89381249-89529462)x3	EPHA3	Copy number gain	See cases	GUncertain significance

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Items: 70