"PreventionGenetics, part of Exact Sciences"[submitter] AND "ERBIN"[ge - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1418702	NM_001253697.2(ERBIN):c.122T>C (p.Ile41Thr)	ERBIN (I41T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3057578	NM_001253697.2(ERBIN):c.186A>G (p.Pro62=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	GLikely benign
Select item 1160746	NM_001253697.2(ERBIN):c.262A>G (p.Ile88Val)	ERBIN (I88V)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GLikely benign
Select item 778867	NM_001253697.2(ERBIN):c.355A>G (p.Ile119Val)	ERBIN (I119V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1472630	NM_001253697.2(ERBIN):c.360G>A (p.Val120=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1569978	NM_001253697.2(ERBIN):c.542A>G (p.Asn181Ser)	ERBIN (N181S)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GLikely benign
Select item 1170783	NM_001253697.2(ERBIN):c.673-9dup	ERBIN	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3047690	NM_001253697.2(ERBIN):c.699A>G (p.Thr233=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	GLikely benign
Select item 771374	NM_001253697.2(ERBIN):c.822G>A (p.Ser274=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder +1 more	GBenign/Likely benign
Select item 1160403	NM_001253697.2(ERBIN):c.830A>C (p.Asn277Thr)	ERBIN (N277T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1509714	NM_001253697.2(ERBIN):c.867G>A (p.Met289Ile)	ERBIN (M289I)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 735682	NM_001253697.2(ERBIN):c.876A>G (p.Pro292=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061072	NM_001253697.2(ERBIN):c.899C>T (p.Ser300Leu)	ERBIN (S300L)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1083820	NM_001253697.2(ERBIN):c.910C>G (p.Leu304Val)	ERBIN (L304V)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GLikely benign
Select item 1013639	NM_001253697.2(ERBIN):c.952A>G (p.Ile318Val)	ERBIN (I318V)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 1462365	NM_001253697.2(ERBIN):c.953T>C (p.Ile318Thr)	ERBIN (I318T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1439145	NM_001253697.2(ERBIN):c.959A>T (p.Gln320Leu)	ERBIN (Q320L)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 780539	NM_001253697.2(ERBIN):c.965C>T (p.Thr322Ile)	ERBIN (T322I)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GBenign
Select item 2631412	NM_001253697.2(ERBIN):c.1015C>G (p.Pro339Ala)	ERBIN (P339A)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 1118700	NM_001253697.2(ERBIN):c.1020+8A>G	ERBIN	Single nucleotide variant (intron variant)	ERBIN-related disorder +1 more	GLikely benign
Select item 1602098	NM_001253697.2(ERBIN):c.1044T>C (p.Thr348=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1532389	NM_001253697.2(ERBIN):c.1137-8dup	ERBIN	Duplication (intron variant)	ERBIN-related disorder +1 more	GBenign/Likely benign
Select item 1164728	NM_001253697.2(ERBIN):c.1306+6A>G	ERBIN	Single nucleotide variant (intron variant)	ERBIN-related disorder +1 more	GBenign/Likely benign
Select item 2631356	NM_001006600.2(ERBIN):c.1309_1313del5	ERBIN	Deletion	ERBIN-related disorder	GUncertain significance
Select item 3061187	NM_001253697.2(ERBIN):c.1338C>G (p.Asn446Lys)	ERBIN (N446K)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1493010	NM_001253697.2(ERBIN):c.1588G>T (p.Asp530Tyr)	ERBIN (D530Y)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 3031262	NM_001253697.2(ERBIN):c.1610A>G (p.Glu537Gly)	ERBIN (E533G +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1656828	NM_001253697.2(ERBIN):c.1674A>G (p.Val558=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2144329	NM_001253697.2(ERBIN):c.1760A>G (p.His587Arg)	ERBIN (H587R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1170085	NM_001253697.2(ERBIN):c.1826T>C (p.Met609Thr)	ERBIN (M605T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 737969	NM_001253697.2(ERBIN):c.1845A>C (p.Pro615=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1022193	NM_001253697.2(ERBIN):c.1862T>C (p.Ile621Thr)	ERBIN (I617T +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3018927	NM_001253697.2(ERBIN):c.1903+6A>C	ERBIN	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632395	NM_001253697.2(ERBIN):c.1910C>G (p.Thr637Arg)	ERBIN (T633R +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1610361	NM_001253697.2(ERBIN):c.2087+10C>A	ERBIN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1604115	NM_001253697.2(ERBIN):c.2451A>G (p.Glu817=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3032757	NM_001253697.2(ERBIN):c.2720G>A (p.Gly907Glu)	ERBIN (G903E +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1521432	NM_001253697.2(ERBIN):c.2759A>G (p.Tyr920Cys)	ERBIN (Y920C +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder +2 more	GUncertain significance
Select item 1478176	NM_001253697.2(ERBIN):c.2825C>T (p.Ala942Val)	ERBIN (A938V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2180483	NM_001253697.2(ERBIN):c.2857G>A (p.Glu953Lys)	ERBIN (E949K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2636173	NM_001253697.2(ERBIN):c.2881C>A (p.Pro961Thr)	ERBIN (P957T +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
Select item 1405153	NM_001253697.2(ERBIN):c.2884A>G (p.Thr962Ala)	ERBIN (T958A +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 1524776	NM_001253697.2(ERBIN):c.3104A>G (p.Asn1035Ser)	ERBIN (N1031S +1 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 770911	NM_001253697.2(ERBIN):c.3133C>T (p.His1045Tyr)	ERBIN (H1041Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 780540	NM_001253697.2(ERBIN):c.3313T>C (p.Leu1105=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder +1 more	GBenign
Select item 1558147	NM_001253697.2(ERBIN):c.3320A>G (p.Tyr1107Cys)	ERBIN (Y1103C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2634996	NM_001253697.2(ERBIN):c.3634-3256A>G	ERBIN (T1224A)	Single nucleotide variant (missense variant +1 more)	ERBIN-related disorder	GUncertain significance
Select item 2630213	NM_001253697.2(ERBIN):c.3634-3256A>T	ERBIN (T1224S)	Single nucleotide variant (missense variant +1 more)	ERBIN-related disorder	GUncertain significance
Select item 3030555	NM_001253697.2(ERBIN):c.3640C>T (p.Pro1214Ser)	ERBIN (P1214S)	Single nucleotide variant (missense variant +1 more)	ERBIN-related disorder	GUncertain significance
Select item 3049981	NM_001253697.2(ERBIN):c.3829C>G (p.Pro1277Ala)	ERBIN (P1232A +3 more)	Single nucleotide variant (missense variant +1 more)	ERBIN-related disorder	GUncertain significance
Select item 1917023	NM_001253697.2(ERBIN):c.3832C>G (p.Gln1278Glu)	ERBIN (Q1237E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2635898	NM_001253697.2(ERBIN):c.3853C>G (p.Pro1285Ala)	ERBIN (P1240A +3 more)	Single nucleotide variant (missense variant +1 more)	ERBIN-related disorder	GUncertain significance
Select item 1499064	NM_001253697.2(ERBIN):c.3968G>A (p.Arg1323Gln)	ERBIN (R1282Q +4 more)	Single nucleotide variant (missense variant)	ERBIN-related disorder +1 more	GUncertain significance
Select item 3052941	NM_001253697.2(ERBIN):c.3981A>G (p.Glu1327=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	GLikely benign
Select item 1170811	NM_001253697.2(ERBIN):c.4102T>C (p.Leu1368=)	ERBIN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign

ClinVar

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Items: 55