ClinVar for Gene (Select 55914) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 3062872	GRCh37/hg19 5q12.3(chr5:64936781-65838741)x1	ERBIN, NLN +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062830	GRCh37/hg19 5q12.3(chr5:65270346-65471972)x1	ERBIN, SREK1	Copy number loss	not specified	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 3061072	NM_001253697.2(ERBIN):c.899C>T (p.Ser300Leu)	ERBIN (S300L)	Single nucleotide variant (missense variant)	ERBIN-related disorder	GUncertain significance
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 3052941	NM_001253697.2(ERBIN):c.3981A>G (p.Glu1327=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	GLikely benign
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 3047690	NM_001253697.2(ERBIN):c.699A>G (p.Thr233=)	ERBIN	Single nucleotide variant (synonymous variant)	ERBIN-related disorder	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 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 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 3025371	NM_001253697.2(ERBIN):c.3634-3271A>T	ERBIN (N1219Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024635	GRCh37/hg19 5q12.3-13.1(chr5:64111112-67101123)x1	ADAMTS6, CD180 +10 more	Copy number loss	not provided	GPathogenic
Select item 3023877	NM_001253697.2(ERBIN):c.1544G>A (p.Gly515Glu)	ERBIN (G515E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022832	NM_001253697.2(ERBIN):c.3756+11G>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022566	NM_001253697.2(ERBIN):c.3298C>G (p.Pro1100Ala)	ERBIN (P1100A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019505	NM_001253697.2(ERBIN):c.305A>C (p.Asn102Thr)	ERBIN (N102T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3017812	NM_001253697.2(ERBIN):c.155A>G (p.Tyr52Cys)	ERBIN (Y52C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016083	NM_001253697.2(ERBIN):c.3123A>G (p.Ala1041=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014912	NM_001253697.2(ERBIN):c.493A>G (p.Ile165Val)	ERBIN (I165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014139	NM_001253697.2(ERBIN):c.2002G>T (p.Val668Phe)	ERBIN (V668F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012446	NM_001253697.2(ERBIN):c.2818A>G (p.Thr940Ala)	ERBIN (T936A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010392	NM_001253697.2(ERBIN):c.3757-19T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3009585	NM_001253697.2(ERBIN):c.2912T>C (p.Ile971Thr)	ERBIN (I967T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009088	NM_001253697.2(ERBIN):c.2110A>G (p.Ser704Gly)	ERBIN (S700G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007527	NM_001253697.2(ERBIN):c.1896C>A (p.Asn632Lys)	ERBIN (N632K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007455	NM_001253697.2(ERBIN):c.3280A>G (p.Thr1094Ala)	ERBIN (T1094A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006445	NM_001253697.2(ERBIN):c.3829C>A (p.Pro1277Thr)	ERBIN (P1232T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004796	NM_001253697.2(ERBIN):c.3908C>T (p.Pro1303Leu)	ERBIN (P1258L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004612	NM_001253697.2(ERBIN):c.561A>G (p.Glu187=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002340	NM_001253697.2(ERBIN):c.910C>A (p.Leu304Met)	ERBIN (L304M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002288	NM_001253697.2(ERBIN):c.3757-17C>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002257	NM_001253697.2(ERBIN):c.131T>C (p.Phe44Ser)	ERBIN (F44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001138	NM_001253697.2(ERBIN):c.2088-12T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000868	NM_001253697.2(ERBIN):c.288A>G (p.Glu96=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999411	NM_001253697.2(ERBIN):c.407A>T (p.Gln136Leu)	ERBIN (Q136L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997262	NM_001253697.2(ERBIN):c.1021-3del	ERBIN	Deletion (intron variant)	not provided	GUncertain significance
Select item 2996259	NM_001253697.2(ERBIN):c.2015C>A (p.Thr672Asn)	ERBIN (T668N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995571	NM_001253697.2(ERBIN):c.2546T>C (p.Ile849Thr)	ERBIN (I849T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993520	NM_001253697.2(ERBIN):c.598-16A>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993001	NM_001253697.2(ERBIN):c.768A>G (p.Gln256=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992438	NM_001253697.2(ERBIN):c.3899A>C (p.His1300Pro)	ERBIN (H1259P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2992253	NM_001253697.2(ERBIN):c.2008C>T (p.Leu670Phe)	ERBIN (L670F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992225	NM_001253697.2(ERBIN):c.4144A>G (p.Ser1382Gly)	ERBIN (S1337G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991424	NM_001253697.2(ERBIN):c.3849G>A (p.Arg1283=)	ERBIN	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2990773	NM_001253697.2(ERBIN):c.2382C>G (p.Ser794Arg)	ERBIN (S790R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990649	NM_001253697.2(ERBIN):c.1137-7C>T	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989448	NM_001253697.2(ERBIN):c.308-17C>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2988544	NM_001253697.2(ERBIN):c.948A>G (p.Ser316=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988433	NM_001253697.2(ERBIN):c.1056C>T (p.Leu352=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987111	NM_001253697.2(ERBIN):c.597+18T>A	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986821	NM_001253697.2(ERBIN):c.25G>T (p.Val9Leu)	ERBIN (V9L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984441	NM_001253697.2(ERBIN):c.4093G>A (p.Ala1365Thr)	ERBIN (A1320T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2984437	NM_001253697.2(ERBIN):c.1938A>G (p.Glu646=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983405	NM_001253697.2(ERBIN):c.3909A>G (p.Pro1303=)	ERBIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2983027	NM_001253697.2(ERBIN):c.951T>C (p.Ser317=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981445	NM_001253697.2(ERBIN):c.1428+16dup	ERBIN	Duplication (intron variant)	not provided	GLikely benign
Select item 2981301	NM_001253697.2(ERBIN):c.286G>A (p.Glu96Lys)	ERBIN (E96K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978684	NM_001253697.2(ERBIN):c.3085A>C (p.Asn1029His)	ERBIN (N1025H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977323	NM_001253697.2(ERBIN):c.4021G>A (p.Gly1341Arg)	ERBIN (G1231R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975420	NM_001253697.2(ERBIN):c.1644A>C (p.Glu548Asp)	ERBIN (E544D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974597	NM_001253697.2(ERBIN):c.2088-13A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974403	NM_001253697.2(ERBIN):c.2429G>T (p.Gly810Val)	ERBIN (G810V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971890	NM_001253697.2(ERBIN):c.818-15_818-14del	ERBIN	Deletion (intron variant)	not provided	GLikely benign
Select item 2969219	NM_001253697.2(ERBIN):c.772C>G (p.Leu258Val)	ERBIN (L258V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968959	NM_001253697.2(ERBIN):c.3517C>T (p.Pro1173Ser)	ERBIN (P1169S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968633	NM_001253697.2(ERBIN):c.534-4A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2967791	NM_001253697.2(ERBIN):c.3370C>A (p.Gln1124Lys)	ERBIN (Q1124K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967476	NM_001253697.2(ERBIN):c.1455A>T (p.Thr485=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965991	NM_001253697.2(ERBIN):c.1429-14T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965915	NM_001253697.2(ERBIN):c.160G>A (p.Asp54Asn)	ERBIN (D54N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964818	NM_001253697.2(ERBIN):c.2870T>C (p.Ile957Thr)	ERBIN (I953T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964586	NM_001253697.2(ERBIN):c.2087+20A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964196	NM_001253697.2(ERBIN):c.673-10_673-9dup	ERBIN	Duplication (intron variant)	not provided	GBenign
Select item 2963523	NM_001253697.2(ERBIN):c.1769A>G (p.Asn590Ser)	ERBIN (N586S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962073	NM_001253697.2(ERBIN):c.1988G>A (p.Arg663Gln)	ERBIN (R663Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958958	NM_001253697.2(ERBIN):c.3634-14T>C	ERBIN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958309	NM_001253697.2(ERBIN):c.1504G>T (p.Val502Leu)	ERBIN (V502L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957591	NM_001253697.2(ERBIN):c.3355A>G (p.Met1119Val)	ERBIN (M1119V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957276	NM_001253697.2(ERBIN):c.284G>T (p.Arg95Met)	ERBIN (R95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2919331	NM_001253697.2(ERBIN):c.1305T>C (p.Asp435=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2913337	NM_001253697.2(ERBIN):c.3963+4A>G	ERBIN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2912136	NM_001253697.2(ERBIN):c.3765G>A (p.Leu1255=)	ERBIN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2910906	NM_001253697.2(ERBIN):c.3511A>G (p.Lys1171Glu)	ERBIN (K1167E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904086	NM_001253697.2(ERBIN):c.3556C>T (p.Pro1186Ser)	ERBIN (P1186S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902097	NM_001253697.2(ERBIN):c.814A>C (p.Ile272Leu)	ERBIN (I272L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900975	NM_001253697.2(ERBIN):c.3079A>G (p.Asn1027Asp)	ERBIN (N1023D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899399	NM_001253697.2(ERBIN):c.1137-6del	ERBIN	Deletion (intron variant)	not provided	GLikely benign
Select item 2898200	NM_001253697.2(ERBIN):c.1076C>G (p.Thr359Arg)	ERBIN (T359R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896666	NM_001253697.2(ERBIN):c.3304G>A (p.Gly1102Arg)	ERBIN (G1102R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894561	NM_001253697.2(ERBIN):c.3215G>A (p.Ser1072Asn)	ERBIN (S1068N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893277	NM_001253697.2(ERBIN):c.3347C>G (p.Thr1116Ser)	ERBIN (T1112S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893065	NM_001253697.2(ERBIN):c.2366T>C (p.Ile789Thr)	ERBIN (I785T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890491	NM_001253697.2(ERBIN):c.3389G>T (p.Arg1130Leu)	ERBIN (R1130L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885539	NM_001253697.2(ERBIN):c.2936T>C (p.Ile979Thr)	ERBIN (I979T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885370	NM_001253697.2(ERBIN):c.848T>C (p.Ile283Thr)	ERBIN (I283T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884994	NM_001253697.2(ERBIN):c.2550C>T (p.Ser850=)	ERBIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883491	NM_001253697.2(ERBIN):c.1896_1898del (p.Asn632del)	ERBIN (N628del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance

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