ClinVar for MedGen (Select 90939) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067889	NM_002353.3(TACSTD2):c.140_148del (p.Asp47_Pro49del)	TACSTD2	Deletion (inframe_deletion)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 1699935	NM_002353.3(TACSTD2):c.653del (p.Asp218fs)	TACSTD2 (D218fs)	Deletion (frameshift variant)	Lattice corneal dystrophy Type III	GPathogenic
Select item 876680	NM_002353.3(TACSTD2):c.*6C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875734	NM_002353.2(TACSTD2):c.-241C>G	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875733	NM_002353.2(TACSTD2):c.-199G>A	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875732	NM_002353.2(TACSTD2):c.-160C>G	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875731	NM_002353.2(TACSTD2):c.-112G>A	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875686	NM_002353.3(TACSTD2):c.*236C>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875685	NM_002353.3(TACSTD2):c.*281A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 875684	NM_002353.3(TACSTD2):c.*298A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 874796	NM_002353.3(TACSTD2):c.8G>C (p.Arg3Pro)	TACSTD2 (R3P)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 874743	NM_002353.3(TACSTD2):c.*645T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 873847	NM_002353.3(TACSTD2):c.720C>A (p.Gly240=)	TACSTD2	Single nucleotide variant (synonymous variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 873846	NM_002353.3(TACSTD2):c.899G>A (p.Arg300Gln)	TACSTD2 (R300Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 715494	NM_002353.3(TACSTD2):c.735C>T (p.Arg245=)	TACSTD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 297780	NM_002353.2(TACSTD2):c.-314G>A	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GLikely benign
Select item 297779	NM_002353.2(TACSTD2):c.-269G>C	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297778	NM_002353.2(TACSTD2):c.-169G>A	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GBenign
Select item 297777	NM_002353.2(TACSTD2):c.-104C>G	TACSTD2	Single nucleotide variant	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297776	NM_002353.3(TACSTD2):c.-56C>G	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297775	NM_002353.3(TACSTD2):c.-56C>T	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297774	NM_002353.3(TACSTD2):c.-54A>C	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297773	NM_002353.3(TACSTD2):c.-1C>A	TACSTD2	Single nucleotide variant (5 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297772	NM_002353.3(TACSTD2):c.175G>A (p.Gly59Ser)	TACSTD2 (G59S)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type III +1 more	GUncertain significance
Select item 297771	NM_002353.3(TACSTD2):c.257C>G (p.Ala86Gly)	TACSTD2 (A86G)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type III +1 more	GConflicting classifications of pathogenicity
Select item 297770	NM_002353.3(TACSTD2):c.441G>C (p.Glu147Asp)	TACSTD2 (E147D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 297769	NM_002353.3(TACSTD2):c.518A>C (p.Asp173Ala)	TACSTD2 (D173A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 297768	NM_002353.3(TACSTD2):c.648C>A (p.Asp216Glu)	TACSTD2 (D216E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 297767	NM_002353.3(TACSTD2):c.762G>A (p.Glu254=)	TACSTD2	Single nucleotide variant (synonymous variant)	Lattice corneal dystrophy Type III	GLikely benign
Select item 297766	NM_002353.3(TACSTD2):c.827G>A (p.Gly276Asp)	TACSTD2 (G276D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 297765	NM_002353.3(TACSTD2):c.828C>T (p.Gly276=)	TACSTD2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 297764	NM_002353.3(TACSTD2):c.889A>G (p.Ile297Val)	TACSTD2 (I297V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 297763	NM_002353.3(TACSTD2):c.*48G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297762	NM_002353.3(TACSTD2):c.*59A>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297761	NM_002353.3(TACSTD2):c.*94G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297760	NM_002353.3(TACSTD2):c.*98C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GLikely benign
Select item 297759	NM_002353.3(TACSTD2):c.*166C>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297758	NM_002353.3(TACSTD2):c.*202A>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297757	NM_002353.3(TACSTD2):c.*226C>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297756	NM_002353.3(TACSTD2):c.*280T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297755	NM_002353.3(TACSTD2):c.*396T>C	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GLikely benign
Select item 297754	NM_002353.3(TACSTD2):c.*421A>G	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297753	NM_002353.3(TACSTD2):c.*565G>T	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297752	NM_002353.3(TACSTD2):c.*637G>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GBenign
Select item 297751	NM_002353.3(TACSTD2):c.*656T>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GUncertain significance
Select item 297749	NM_002353.3(TACSTD2):c.*751C>A	TACSTD2	Single nucleotide variant (3 prime UTR variant)	Lattice corneal dystrophy Type III	GLikely benign
Select item 16189	NM_002353.3(TACSTD2):c.557T>C (p.Leu186Pro)	TACSTD2 (L186P)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16188	NM_002353.3(TACSTD2):c.772_783delinsT (p.Leu257_Ile258insTer)	TACSTD2	Indel (nonsense)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16187	NM_002353.3(TACSTD2):c.355T>A (p.Cys119Ser)	TACSTD2 (C119S)	Single nucleotide variant (missense variant)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16186	NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)	TACSTD2 (M1R)	Single nucleotide variant (missense variant +1 more)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16185	NM_002353.3(TACSTD2):c.632del (p.Gln211fs)	TACSTD2 (Q211fs)	Deletion (frameshift variant)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16184	NM_002353.3(TACSTD2):c.509C>A (p.Ser170Ter)	TACSTD2 (S170*)	Single nucleotide variant (nonsense)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16183	NM_002353.3(TACSTD2):c.619C>T (p.Gln207Ter)	TACSTD2 (Q207*)	Single nucleotide variant (nonsense)	Lattice corneal dystrophy Type III	GPathogenic
Select item 16182	NM_002353.3(TACSTD2):c.352C>T (p.Gln118Ter)	TACSTD2 (Q118*)	Single nucleotide variant (nonsense)	Lattice corneal dystrophy Type III	GPathogenic

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Links from MedGen

Items: 54