ClinVar for Gene (Select 4053) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3121443	NM_000428.3(LTBP2):c.5201C>T (p.Ala1734Val)	LTBP2 (A1734V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121442	NM_000428.3(LTBP2):c.4273A>C (p.Ser1425Arg)	LTBP2 (S1425R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121440	NM_000428.3(LTBP2):c.3969T>A (p.Asp1323Glu)	LTBP2 (D1323E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121439	NM_000428.3(LTBP2):c.335C>T (p.Ser112Leu)	LTBP2 (S112L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121438	NM_000428.3(LTBP2):c.2602T>A (p.Tyr868Asn)	LTBP2 (Y868N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121437	NM_000428.3(LTBP2):c.2500A>G (p.Thr834Ala)	LTBP2 (T834A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121436	NM_000428.3(LTBP2):c.245T>C (p.Leu82Ser)	LTBP2 (L82S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121435	NM_000428.3(LTBP2):c.1825C>T (p.Pro609Ser)	LTBP2 (P609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121434	NM_000428.3(LTBP2):c.1778C>T (p.Pro593Leu)	LTBP2 (P593L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121433	NM_000428.3(LTBP2):c.1658G>A (p.Arg553Gln)	LTBP2 (R553Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121431	NM_000428.3(LTBP2):c.1634C>T (p.Pro545Leu)	LTBP2 (P545L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121430	NM_000428.3(LTBP2):c.1337G>A (p.Arg446Lys)	LTBP2 (R446K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121429	NM_000428.3(LTBP2):c.1135A>T (p.Thr379Ser)	LTBP2 (T379S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121428	NM_000428.3(LTBP2):c.1133C>A (p.Thr378Asn)	LTBP2 (T378N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065137	NM_000428.3(LTBP2):c.565+1G>A	LTBP2	Single nucleotide variant (splice donor variant)	Glaucoma 3, primary congenital, D	GLikely pathogenic
Select item 3064732	NM_000428.3(LTBP2):c.1395G>T (p.Gln465His)	LTBP2 (Q465H)	Single nucleotide variant (missense variant)	Glaucoma 3, primary congenital, D	GUncertain significance
Select item 3020115	NM_000428.3(LTBP2):c.1503C>T (p.Ala501=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019470	NM_000428.3(LTBP2):c.1404C>T (p.Ser468=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016704	NM_000428.3(LTBP2):c.2562C>T (p.Asn854=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016373	NM_000428.3(LTBP2):c.4323C>T (p.Gly1441=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016349	NM_000428.3(LTBP2):c.2205C>T (p.Ser735=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015526	NM_000428.3(LTBP2):c.4494G>A (p.Pro1498=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013688	NM_000428.3(LTBP2):c.3612G>T (p.Ala1204=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013185	NM_000428.3(LTBP2):c.3660C>T (p.Asp1220=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012558	NM_000428.3(LTBP2):c.3653-16G>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3012096	NM_000428.3(LTBP2):c.831-15C>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010378	NM_000428.3(LTBP2):c.1005C>T (p.His335=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009465	NM_000428.3(LTBP2):c.2401G>C (p.Val801Leu)	LTBP2 (V801L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008249	NM_000428.3(LTBP2):c.3652+14A>G	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006436	NM_000428.3(LTBP2):c.2343T>C (p.Leu781=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005502	NM_000428.3(LTBP2):c.5070C>G (p.Ala1690=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004735	NM_000428.3(LTBP2):c.4626C>T (p.Cys1542=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004485	NM_000428.3(LTBP2):c.442_443del (p.Pro148fs)	LTBP2 (P148fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3004447	NM_000428.3(LTBP2):c.135G>A (p.Pro45=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000206	NM_000428.3(LTBP2):c.3907+19G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999366	NM_000428.3(LTBP2):c.3942C>G (p.Gly1314=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998589	NM_000428.3(LTBP2):c.3207G>A (p.Thr1069=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997982	NM_000428.3(LTBP2):c.2660-7T>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997266	NM_000428.3(LTBP2):c.3907+5G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2997113	NM_000428.3(LTBP2):c.422C>G (p.Ala141Gly)	LTBP2 (A141G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996905	NM_000428.3(LTBP2):c.2368+12G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995370	NM_000428.3(LTBP2):c.4752C>T (p.Asp1584=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994327	NM_000428.3(LTBP2):c.2517C>T (p.Thr839=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988301	NM_000428.3(LTBP2):c.3360C>T (p.Cys1120=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986286	NM_000428.3(LTBP2):c.4788C>T (p.Ser1596=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986173	NM_000428.3(LTBP2):c.1326G>T (p.Gly442=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983927	NM_000428.3(LTBP2):c.822A>G (p.Pro274=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983708	NM_000428.3(LTBP2):c.1345C>T (p.Leu449=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983254	NM_000428.3(LTBP2):c.5379C>T (p.Cys1793=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982791	NM_000428.3(LTBP2):c.1296G>C (p.Pro432=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982667	NM_000428.3(LTBP2):c.2908+10G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982213	NM_000428.3(LTBP2):c.753G>A (p.Ala251=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980915	NM_000428.3(LTBP2):c.1905G>A (p.Ala635=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980767	NM_000428.3(LTBP2):c.2612dup (p.Cys872fs)	LTBP2 (C872fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2979594	NM_000428.3(LTBP2):c.3653-14C>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977999	NM_000428.3(LTBP2):c.4889-9C>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974069	NM_000428.3(LTBP2):c.2124G>A (p.Glu708=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972560	NM_000428.3(LTBP2):c.5019G>A (p.Gly1673=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971133	NM_000428.3(LTBP2):c.5171-16G>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970933	NM_000428.3(LTBP2):c.4812C>T (p.Thr1604=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970601	NM_000428.3(LTBP2):c.2049C>T (p.Cys683=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969628	NM_000428.3(LTBP2):c.4575G>A (p.Lys1525=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969373	NM_000428.3(LTBP2):c.566-15T>G	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968923	NM_000428.3(LTBP2):c.1021+12_1021+13del	LTBP2	Deletion (intron variant)	not provided	GLikely benign
Select item 2968704	NM_000428.3(LTBP2):c.1193-20C>T	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965902	NM_000428.3(LTBP2):c.4682T>G (p.Leu1561Arg)	LTBP2 (L1561R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965445	NM_000428.3(LTBP2):c.4560T>C (p.Asp1520=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958977	NM_000428.3(LTBP2):c.663C>T (p.Val221=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958162	NM_000428.3(LTBP2):c.4033+13T>G	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955936	NM_000428.3(LTBP2):c.4002C>T (p.Phe1334=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955643	NM_000428.3(LTBP2):c.1206C>A (p.Ile402=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920662	NM_000428.3(LTBP2):c.1253G>T (p.Cys418Phe)	LTBP2 (C418F)	Single nucleotide variant (missense variant)	Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	GUncertain significance
Select item 2919670	NM_000428.3(LTBP2):c.5088T>C (p.Gly1696=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919591	NM_000428.3(LTBP2):c.2388+9G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2915746	NM_000428.3(LTBP2):c.501C>T (p.Asn167=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915639	NM_000428.3(LTBP2):c.2862C>T (p.Cys954=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910357	NM_000428.3(LTBP2):c.5235T>G (p.Asn1745Lys)	LTBP2 (N1745K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2908363	NM_000428.3(LTBP2):c.2945_2968del (p.Asp982_Pro989del)	LTBP2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2906551	NM_000428.3(LTBP2):c.1233C>T (p.Ile411=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904436	NM_000428.3(LTBP2):c.3813T>C (p.Cys1271=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902952	NM_000428.3(LTBP2):c.1257C>T (p.Pro419=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902475	NM_000428.3(LTBP2):c.2394G>A (p.Thr798=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899596	NM_000428.3(LTBP2):c.4668G>A (p.Pro1556=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897265	NM_000428.3(LTBP2):c.1209C>T (p.Pro403=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896391	NM_000428.3(LTBP2):c.1422G>A (p.Val474=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891107	NM_000428.3(LTBP2):c.69G>C (p.Pro23=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888514	NM_000428.3(LTBP2):c.4077G>A (p.Ala1359=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888357	NM_000428.3(LTBP2):c.405G>C (p.Arg135=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886213	NM_000428.3(LTBP2):c.2583C>T (p.Cys861=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881250	NM_000428.3(LTBP2):c.1022-4G>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880020	NM_000428.3(LTBP2):c.2909-18G>A	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873972	NM_000428.3(LTBP2):c.1608C>T (p.Pro536=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2872806	NM_000428.3(LTBP2):c.3621C>T (p.Phe1207=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871695	NM_000428.3(LTBP2):c.270G>C (p.Pro90=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871262	NM_000428.3(LTBP2):c.3611_3612insT (p.Pro1205fs)	LTBP2 (P1205fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2869412	NM_000428.3(LTBP2):c.4583-16T>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868717	NM_000428.3(LTBP2):c.3210G>A (p.Glu1070=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867780	NM_000428.3(LTBP2):c.3408G>A (p.Val1136=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867336	NM_000428.3(LTBP2):c.2001C>T (p.Ile667=)	LTBP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863578	NM_000428.3(LTBP2):c.2428+12T>C	LTBP2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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