3255[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 146363	GRCh38/hg38 2p11.2-11.1(chr2:87098178-91884275)x3	LOC122787150, LOC122787151 +104 more	Copy number gain	See cases	GUncertain significance
Select item 148476	GRCh38/hg38 2p11.2(chr2:87375475-90282666)x3	CYTOR, EIF2AK3 +101 more	Copy number gain	See cases	GUncertain significance
Select item 369350	NM_004836.6(EIF2AK3):c.*1007C>G	EIF2AK3, LOC101928371	Single nucleotide variant	Wolcott-Rallison dysplasia	GBenign
Select item 337389	NM_004836.7(EIF2AK3):c.*894AATC[1]	EIF2AK3, LOC101928371	Microsatellite (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337390	NM_004836.7(EIF2AK3):c.*864ATGTTT[1]	EIF2AK3, LOC101928371	Microsatellite (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897425	NM_004836.7(EIF2AK3):c.*712C>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337391	NM_004836.7(EIF2AK3):c.*635G>A	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337392	NM_004836.7(EIF2AK3):c.*459G>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897426	NM_004836.7(EIF2AK3):c.*408T>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337393	NM_004836.7(EIF2AK3):c.363_364del	EIF2AK3, LOC101928371	Deletion (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337394	NM_004836.7(EIF2AK3):c.*360C>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897427	NM_004836.7(EIF2AK3):c.*356A>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 897428	NM_004836.7(EIF2AK3):c.*340A>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337395	NM_004836.7(EIF2AK3):c.*300TA[7]	EIF2AK3, LOC101928371	Microsatellite (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337396	NM_004836.7(EIF2AK3):c.*286G>C	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337397	NM_004836.7(EIF2AK3):c.*271T>G	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337398	NM_004836.7(EIF2AK3):c.*175A>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898591	NM_004836.7(EIF2AK3):c.*104A>C	LOC101928371, EIF2AK3	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 898592	NM_004836.7(EIF2AK3):c.*99C>T	EIF2AK3, LOC101928371	Single nucleotide variant (3 prime UTR variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2825535	NM_004836.7(EIF2AK3):c.3339G>A (p.Leu1113=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 759399	NM_004836.7(EIF2AK3):c.3337T>C (p.Leu1113=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013643	NM_004836.7(EIF2AK3):c.3330T>C (p.His1110=)	LOC101928371, EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001118	NM_004836.7(EIF2AK3):c.3330T>A (p.His1110Gln)	EIF2AK3, LOC101928371 (H1110Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855818	NM_004836.7(EIF2AK3):c.3324C>T (p.Asn1108=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1393958	NM_004836.7(EIF2AK3):c.3318dup (p.Asn1107fs)	EIF2AK3, LOC101928371 (N1107fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1518861	NM_004836.7(EIF2AK3):c.3317C>T (p.Ser1106Phe)	EIF2AK3, LOC101928371 (S1106F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898159	NM_004836.7(EIF2AK3):c.3294G>A (p.Ser1098=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2689010	NM_004836.7(EIF2AK3):c.3293C>A (p.Ser1098Ter)	EIF2AK3, LOC101928371 (S1098* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 337399	NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1376027	NM_004836.7(EIF2AK3):c.3287G>A (p.Ser1096Asn)	EIF2AK3, LOC101928371 (S1096N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2806636	NM_004836.7(EIF2AK3):c.3285G>A (p.Leu1095=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867478	NM_004836.7(EIF2AK3):c.3282C>T (p.Ser1094=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836357	NM_004836.7(EIF2AK3):c.3279C>T (p.Arg1093=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806569	NM_004836.7(EIF2AK3):c.3279C>A (p.Arg1093=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954698	NM_004836.7(EIF2AK3):c.3278G>A (p.Arg1093His)	EIF2AK3, LOC101928371 (R1093H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1395881	NM_004836.7(EIF2AK3):c.3277C>T (p.Arg1093Cys)	EIF2AK3, LOC101928371 (R942C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355527	NM_004836.7(EIF2AK3):c.3275C>T (p.Ser1092Phe)	EIF2AK3, LOC101928371 (S941F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908063	NM_004836.7(EIF2AK3):c.3267A>G (p.Arg1089=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824438	NM_004836.7(EIF2AK3):c.3265A>C (p.Arg1089=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471436	NM_004836.7(EIF2AK3):c.3247C>G (p.Pro1083Ala)	EIF2AK3, LOC101928371 (P1083A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009456	NM_004836.7(EIF2AK3):c.3246T>C (p.Phe1082=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750640	NM_004836.7(EIF2AK3):c.3234G>A (p.Glu1078=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744144	NM_004836.7(EIF2AK3):c.3222T>C (p.Asn1074=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 898593	NM_004836.7(EIF2AK3):c.3222T>A (p.Asn1074Lys)	EIF2AK3, LOC101928371 (N1074K +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2718308	NM_004836.7(EIF2AK3):c.3216T>C (p.Ile1072=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716808	NM_004836.7(EIF2AK3):c.3208A>C (p.Asn1070His)	EIF2AK3, LOC101928371 (N1070H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581529	NM_004836.7(EIF2AK3):c.3194G>A (p.Arg1065Gln)	LOC101928371, EIF2AK3 (R1065Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2734241	NM_004836.7(EIF2AK3):c.3193C>T (p.Arg1065Ter)	EIF2AK3, LOC101928371 (R1065* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2189327	NM_004836.7(EIF2AK3):c.3167A>T (p.Asp1056Val)	LOC101928371, EIF2AK3 (D905V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839225	NM_004836.7(EIF2AK3):c.3160G>A (p.Val1054Ile)	EIF2AK3, LOC101928371 (V1054I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420236	NM_004836.7(EIF2AK3):c.3157A>G (p.Met1053Val)	EIF2AK3, LOC101928371 (M1053V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1436860	NM_004836.7(EIF2AK3):c.3154G>A (p.Val1052Met)	EIF2AK3, LOC101928371 (V1052M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 497268	NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1623990	NM_004836.7(EIF2AK3):c.3151-6T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785322	NM_004836.7(EIF2AK3):c.3151-11T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644310	NM_004836.7(EIF2AK3):c.3151-11del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GBenign
Select item 1627545	NM_004836.7(EIF2AK3):c.3151-13T>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1279220	NM_004836.7(EIF2AK3):c.3150+69G>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3005381	NM_004836.7(EIF2AK3):c.3150+16_3150+17del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 2844723	NM_004836.7(EIF2AK3):c.3150+16A>T	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2866575	NM_004836.7(EIF2AK3):c.3150+8T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729968	NM_004836.7(EIF2AK3):c.3150+1G>A	EIF2AK3, LOC101928371	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2767802	NM_004836.7(EIF2AK3):c.3141T>A (p.Tyr1047Ter)	EIF2AK3, LOC101928371 (Y1047* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3007858	NM_004836.7(EIF2AK3):c.3129T>C (p.Phe1043=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859177	NM_004836.7(EIF2AK3):c.3124T>C (p.Leu1042=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1350709	NM_004836.7(EIF2AK3):c.3121C>A (p.Pro1041Thr)	EIF2AK3, LOC101928371 (P1041T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104253	NM_004836.7(EIF2AK3):c.3115T>C (p.Phe1039Leu)	LOC101928371, EIF2AK3 (F1039L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435048	NM_004836.7(EIF2AK3):c.3114A>T (p.Lys1038Asn)	EIF2AK3, LOC101928371 (K1038N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2969277	NM_004836.7(EIF2AK3):c.3111C>G (p.Leu1037=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826265	NM_004836.7(EIF2AK3):c.3108T>C (p.Asn1036=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522353	NM_004836.7(EIF2AK3):c.3104G>T (p.Arg1035Ile)	EIF2AK3, LOC101928371 (R1035I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806640	NM_004836.7(EIF2AK3):c.3102A>G (p.Val1034=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584553	NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)	EIF2AK3, LOC101928371 (V1034I +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1720572	NM_004836.7(EIF2AK3):c.3098A>G (p.Asp1033Gly)	EIF2AK3, LOC101928371 (D1033G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830478	NM_004836.7(EIF2AK3):c.3096T>C (p.Thr1032=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028303	NM_004836.7(EIF2AK3):c.3095C>G (p.Thr1032Ser)	EIF2AK3, LOC101928371 (T1032S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 1984479	NM_004836.7(EIF2AK3):c.3090C>T (p.Thr1030=)	EIF2AK3, LOC101928371	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2011891	NM_004836.7(EIF2AK3):c.3089C>T (p.Thr1030Ile)	EIF2AK3, LOC101928371 (T1030I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2675020	NM_004836.7(EIF2AK3):c.3088-1G>C	EIF2AK3, LOC101928371	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2834584	NM_004836.7(EIF2AK3):c.3088-4T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2885978	NM_004836.7(EIF2AK3):c.3088-9dup	LOC101928371, EIF2AK3	Duplication (intron variant)	not provided	GBenign
Select item 2783933	NM_004836.7(EIF2AK3):c.3088-8del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 2752584	NM_004836.7(EIF2AK3):c.3088-9T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1981746	NM_004836.7(EIF2AK3):c.3088-9del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GBenign
Select item 1426019	NM_004836.7(EIF2AK3):c.3088-11_3088-9del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GLikely benign
Select item 1569810	NM_004836.7(EIF2AK3):c.3088-24_3088-12del	EIF2AK3, LOC101928371	Deletion (intron variant)	not provided	GBenign
Select item 2877471	NM_004836.7(EIF2AK3):c.3088-14T>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875841	NM_004836.7(EIF2AK3):c.3088-15T>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839407	NM_004836.7(EIF2AK3):c.3088-15T>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2783934	NM_004836.7(EIF2AK3):c.3088-17A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1466552	NM_004836.7(EIF2AK3):c.3088-19A>G	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986471	NM_004836.7(EIF2AK3):c.3088-20G>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2732768	NM_004836.7(EIF2AK3):c.3088-20G>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235447	NM_004836.7(EIF2AK3):c.3088-147_3088-146del	EIF2AK3, LOC101928371	Microsatellite (intron variant)	not provided	GBenign
Select item 2699615	NM_004836.7(EIF2AK3):c.3071_3087+167del	EIF2AK3, LOC101928371	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1281144	NM_004836.7(EIF2AK3):c.3087+50A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2790163	NM_004836.7(EIF2AK3):c.3087+17C>A	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818990	NM_004836.7(EIF2AK3):c.3087+16A>C	EIF2AK3, LOC101928371	Single nucleotide variant (intron variant)	not provided	GLikely benign

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