Related gene-specific medical variations for Gene (Select 7173) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360570	NM_001206744.2(TPO):c.2287G>A (p.Val763Met)	TPO (V590M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3247470	NC_000002.11:g.(?_1481033)_(1482139_?)del	TPO	Deletion	not provided	GLikely pathogenic
Select item 3247468	NC_000002.11:g.(?_1520635)_(1520774_?)dup	TPO	Duplication	not provided	GLikely pathogenic
Select item 3247467	NC_000002.11:g.(?_1499741)_(1500557_?)del	TPO	Deletion	not provided	GPathogenic
Select item 3247466	NC_000002.11:g.(?_1418181)_(1418294_?)del	TPO	Deletion	not provided	GPathogenic
Select item 3247465	NC_000002.11:g.(?_1418181)_(1546310_?)del	TPO	Deletion	not provided	GPathogenic
Select item 3181557	NM_001206744.2(TPO):c.2675C>A (p.Pro892His)	LOC126806104, TPO (P892H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3061154	NM_001206744.2(TPO):c.2748G>A (p.Gln916=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	TPO-related disorder	GLikely pathogenic
Select item 3003283	NM_001206744.2(TPO):c.2748+17del	LOC126806104, TPO	Deletion (intron variant)	not provided	GLikely benign
Select item 3002624	NM_001206744.2(TPO):c.2655G>A (p.Ser885=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995442	NM_001206744.2(TPO):c.2664C>T (p.Gly888=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995157	NM_001206744.2(TPO):c.2646G>A (p.Leu882=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995063	NM_001206744.2(TPO):c.2619-9C>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988845	NM_001206744.2(TPO):c.2619-14C>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987711	NM_001206744.2(TPO):c.2748+17C>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977766	NM_001206744.2(TPO):c.2619-5C>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971388	NM_001206744.2(TPO):c.2742G>A (p.Ser914=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966905	NM_001206744.2(TPO):c.2748+18G>A	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963613	NM_001206744.2(TPO):c.2619-19G>A	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957319	NM_001206744.2(TPO):c.2748+20A>G	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954894	NM_001206744.2(TPO):c.2619-13G>A	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905740	NM_001206744.2(TPO):c.2727C>T (p.Ala909=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903742	NM_001206744.2(TPO):c.2676C>G (p.Pro892=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899553	NM_001206744.2(TPO):c.2652C>T (p.Ile884=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896074	NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter)	LOC126806104, TPO (C896* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2893509	NM_001206744.2(TPO):c.2691A>C (p.Gly897=)	TPO, LOC126806104	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891135	NM_001206744.2(TPO):c.2649C>T (p.Pro883=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881597	NM_001206744.2(TPO):c.2748+18G>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872190	NM_001206744.2(TPO):c.2748+7C>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825109	NM_001206744.2(TPO):c.2619-20T>C	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803007	NM_001206744.2(TPO):c.2619-18G>T	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799062	NM_001206744.2(TPO):c.2718G>A (p.Pro906=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712942	NM_001206744.2(TPO):c.2669del (p.Gly890fs)	LOC126806104, TPO (G833fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2697972	NM_001206744.2(TPO):c.2664C>A (p.Gly888=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690260	NM_001206744.2(TPO):c.2665G>A (p.Gly889Arg)	LOC126806104, TPO (G716R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690259	NM_001206744.2(TPO):c.1516G>A (p.Ala506Thr)	TPO (A333T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664755	NM_001206744.2(TPO):c.2619G>A (p.Trp873Ter)	LOC126806104, TPO (W700* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2602448	NM_001206744.2(TPO):c.2624G>A (p.Arg875His)	LOC126806104, TPO (R702H +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506221	NM_001206744.2(TPO):c.2723_2732del (p.Arg908fs)	TPO, LOC126806104 (R735fs +3 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2437215	NM_001206744.2(TPO):c.218T>C (p.Leu73Pro)	TPO (L73P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437214	NM_000547.5(TPO):c.-917T>C	TPO	Single nucleotide variant (genic upstream transcript variant)	not provided	GUncertain significance
Select item 2437213	NM_001206744.2(TPO):c.1277C>A (p.Ala426Glu)	TPO (A426E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2345722	NM_001206744.2(TPO):c.2619G>T (p.Trp873Cys)	LOC126806104, TPO (W829C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1245416	NM_001206744.2(TPO):c.2748+122G>A	LOC126806104, TPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931713	NM_001206744.2(TPO):c.1747G>T (p.Gly583Cys)	TPO (G410C +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of iodide peroxidase	GUncertain significance
Select item 930340	NM_001206744.2(TPO):c.1430_1450del (p.Ala477_Asn483del)	TPO	Deletion (inframe_deletion)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893816	NM_001206744.2(TPO):c.2704G>T (p.Val902Leu)	TPO, LOC126806104 (V729L +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893815	NM_001206744.2(TPO):c.2691A>T (p.Gly897=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 893814	NM_001206744.2(TPO):c.2652C>G (p.Ile884Met)	LOC126806104, TPO (I840M +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 801646	NM_001206744.2(TPO):c.2644C>G (p.Leu882Val)	LOC126806104, TPO (L825V +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 786999	NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs)	LOC126806104, TPO (A852fs +3 more)	Duplication (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 331640	NM_001206744.2(TPO):c.2717C>T (p.Pro906Leu)	LOC126806104, TPO (P906L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 331639	NM_001206744.2(TPO):c.2703C>T (p.Ala901=)	LOC126806104, TPO	Single nucleotide variant (synonymous variant)	Deficiency of iodide peroxidase +1 more	GConflicting classifications of pathogenicity
Select item 331638	NM_001206744.2(TPO):c.2702C>G (p.Ala901Gly)	LOC126806104, TPO (A901G +3 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase	GUncertain significance
Select item 225496	NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser)	LOC126806104, TPO (P883S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 151411	GRCh38/hg38 2p25.3(chr2:1438270-1504110)x3	TPO	Copy number gain	See cases	GBenign

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Items: 56