ClinVar for MedGen (Select 105489) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242060	NM_001063.4(TF):c.113G>A (p.Cys38Tyr)	TF (C38Y)	Single nucleotide variant (missense variant +2 more)	Atransferrinemia	GUncertain significance
Select item 1699991	NM_001063.4(TF):c.1444C>T (p.Pro482Ser)	TF (P355S +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GLikely pathogenic
Select item 1174118	NM_001063.4(TF):c.2063-11_2063-10del	TF	Microsatellite (intron variant)	Atransferrinemia	GUncertain significance
Select item 903113	NM_001063.4(TF):c.1615G>A (p.Ala539Thr)	TF (A412T +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GUncertain significance
Select item 903112	NM_001063.4(TF):c.1352T>C (p.Val451Ala)	TF (V407A +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GUncertain significance
Select item 903055	NM_001063.4(TF):c.502+12G>A	TF	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903054	NM_001063.4(TF):c.311A>G (p.Tyr104Cys)	TF (Y104C +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 903053	NM_001063.4(TF):c.281A>G (p.Asn94Ser)	TF (N94S +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 902238	NM_001063.4(TF):c.1204-14C>A	TF	Single nucleotide variant (intron variant)	Atransferrinemia +1 more	GConflicting classifications of pathogenicity
Select item 902237	NM_001063.4(TF):c.1198A>G (p.Ile400Val)	TF (I400V +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GUncertain significance
Select item 902236	NM_001063.4(TF):c.1044C>T (p.Gly348=)	TF	Single nucleotide variant (synonymous variant)	Atransferrinemia	GUncertain significance
Select item 902173	NM_001063.4(TF):c.227C>T (p.Ala76Val)	TF (A32V +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia +1 more	GLikely benign
Select item 902172	NM_001063.4(TF):c.215C>T (p.Ala72Val)	TF (A72V +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia +1 more	GUncertain significance
Select item 902171	NM_001063.4(TF):c.165T>A (p.Ser55Arg)	TF (S11R +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 900555	NM_001063.4(TF):c.1027C>T (p.Arg343Trp)	TF (R216W +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 900554	NM_001063.4(TF):c.828C>T (p.Gly276=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900514	NM_001063.4(TF):c.-18C>T	TF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 899492	NM_001063.4(TF):c.*361T>C	TF	Single nucleotide variant (3 prime UTR variant)	Atransferrinemia	GUncertain significance
Select item 899434	NM_001063.4(TF):c.790C>G (p.Gln264Glu)	TF (Q137E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 899433	NM_001063.4(TF):c.680C>T (p.Ser227Leu)	TF (S100L +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GUncertain significance
Select item 784025	NM_001063.4(TF):c.993G>A (p.Lys331=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 763909	NM_001063.4(TF):c.1029G>A (p.Arg343=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735968	NM_001063.4(TF):c.43+8C>A	TF	Single nucleotide variant (intron variant)	Atransferrinemia +1 more	GConflicting classifications of pathogenicity
Select item 730768	NM_001063.4(TF):c.1095G>A (p.Ala365=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694735	NM_001063.4(TF):c.1623-63del	TF	Deletion (intron variant)	not specified	GBenign
Select item 632401	NM_001063.4(TF):c.174T>A (p.Cys58Ter)	TF (C58* +1 more)	Single nucleotide variant (nonsense +1 more)	Atransferrinemia	GUncertain significance
Select item 343451	NM_001063.4(TF):c.*81A>G	TF	Single nucleotide variant (3 prime UTR variant)	Atransferrinemia	GUncertain significance
Select item 343450	NM_001063.4(TF):c.1805C>A (p.Pro602Gln)	TF (P602Q +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GUncertain significance
Select item 343449	NM_001063.4(TF):c.1785C>T (p.Asn595=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343448	NM_001063.4(TF):c.1688-4C>A	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 343447	NM_001063.4(TF):c.1687+9A>C	TF	Single nucleotide variant (intron variant)	Atransferrinemia	GUncertain significance
Select item 343446	NM_001063.4(TF):c.1614C>T (p.Gly538=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343445	NM_001063.4(TF):c.1602C>T (p.Tyr534=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 343444	NM_001063.4(TF):c.1572G>C (p.Leu524=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343443	NM_001063.4(TF):c.1302C>T (p.Ser434=)	TF	Single nucleotide variant (synonymous variant)	Atransferrinemia +1 more	GBenign/Likely benign
Select item 343442	NM_001063.4(TF):c.1107C>T (p.His369=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343441	NM_001063.4(TF):c.887A>G (p.Asp296Gly)	TF (D296G +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia +1 more	GBenign/Likely benign
Select item 343440	NM_001063.4(TF):c.804T>C (p.His268=)	TF	Single nucleotide variant (synonymous variant)	Atransferrinemia +1 more	GBenign
Select item 343439	NM_001063.4(TF):c.739C>T (p.Leu247=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343438	NM_001063.4(TF):c.686T>C (p.Ile229Thr)	TF (I229T +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia +1 more	GUncertain significance
Select item 343437	NM_001063.4(TF):c.635+13T>A	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343436	NM_001063.4(TF):c.624G>A (p.Ser208=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343435	NM_001063.4(TF):c.585G>A (p.Gly195=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343434	NM_001063.4(TF):c.582A>G (p.Pro194=)	TF	Single nucleotide variant (synonymous variant)	Atransferrinemia +1 more	GBenign
Select item 343433	NM_001063.4(TF):c.521C>T (p.Ser174Leu)	TF (S174L +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia +1 more	GLikely benign
Select item 343432	NM_001063.4(TF):c.432C>T (p.Ser144=)	TF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 343431	NM_001063.4(TF):c.417G>A (p.Thr139=)	TF	Single nucleotide variant (synonymous variant)	Atransferrinemia +1 more	GBenign
Select item 343430	NM_001063.4(TF):c.334A>G (p.Thr112Ala)	TF (T112A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 343429	NM_001063.4(TF):c.333G>A (p.Gln111=)	TF	Single nucleotide variant (synonymous variant +1 more)	Atransferrinemia +1 more	GBenign/Likely benign
Select item 343428	NM_001063.4(TF):c.228G>A (p.Ala76=)	TF	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343427	NM_001063.4(TF):c.216+14G>C	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343426	NM_001063.4(TF):c.154G>A (p.Asp52Asn)	TF (D52N +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 343425	NM_001063.4(TF):c.142G>A (p.Val48Ile)	TF (V48I +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GUncertain significance
Select item 343424	NM_001063.4(TF):c.119G>A (p.Ser40Asn)	TF (S40N)	Single nucleotide variant (missense variant +2 more)	Atransferrinemia +1 more	GConflicting classifications of pathogenicity
Select item 343423	NM_001063.4(TF):c.60C>T (p.Val20=)	TF	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 343422	NM_001063.4(TF):c.-2A>G	TF	Single nucleotide variant (5 prime UTR variant +1 more)	Atransferrinemia +1 more	GBenign
Select item 343421	NM_001063.3(TF):c.-65G>C	TF	Single nucleotide variant (intron variant)	Atransferrinemia +1 more	GLikely benign
Select item 343420	NM_001063.3(TF):c.-84G>T	TF	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 343419	NM_001063.3(TF):c.-117G>A	TF	Single nucleotide variant (intron variant)	Atransferrinemia	GUncertain significance
Select item 218294	NM_001063.4(TF):c.1825C>T (p.Arg609Trp)	TF (R609W +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GLikely pathogenic
Select item 12623	NM_001063.4(TF):c.1180G>A (p.Glu394Lys)	TF (E394K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12622	NM_001063.4(TF):c.829G>A (p.Gly277Ser)	TF (G277S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 12621	NM_001063.4(TF):c.229G>A (p.Asp77Asn)	TF (D77N +1 more)	Single nucleotide variant (missense variant +1 more)	Atransferrinemia	GPathogenic
Select item 12620	NM_001063.4(TF):c.1429G>C (p.Ala477Pro)	TF (A477P +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia	GPathogenic
Select item 12619	NM_001063.4(TF):c.562_564delinsAA (p.Gln188fs)	TF (Q144fs +2 more)	Indel (frameshift variant)	Atransferrinemia	GPathogenic
Select item 12617	NM_001063.4(TF):c.1765C>T (p.Pro589Ser)	TF (P589S +2 more)	Single nucleotide variant (missense variant)	Atransferrinemia +1 more	GBenign
Select item 12616	NM_001063.4(TF):c.2012G>A (p.Gly671Glu)	TF (G671E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 12615	NM_001063.4(TF):c.956A>G (p.His319Arg)	TF (H319R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Links from MedGen

Items: 68