"GeneDx"[submitter] AND "THPO"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57995	GRCh38/hg38 3q27.1(chr3:184200139-184656801)x3	ALG3, CAMK2N2 +35 more	Copy number gain	See cases	GPathogenic
Select item 60129	GRCh38/hg38 3q27.1(chr3:184239109-184391437)x1	EIF4G1, FAM131A +26 more	Copy number loss	See cases	GUncertain significance
Select item 344368	NM_000460.4(THPO):c.*59G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 344369	NM_000460.4(THPO):c.*35G>A	THPO	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 256211	NM_000460.4(THPO):c.1030A>G (p.Thr344Ala)	THPO (T344A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2135109	NM_000460.4(THPO):c.973C>T (p.Pro325Ser)	THPO (P321S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443621	NM_000460.4(THPO):c.860A>G (p.Asn287Ser)	THPO (N283S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1261007	NM_000460.4(THPO):c.396+54C>A	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504918	NM_000460.4(THPO):c.355C>T (p.Arg119Cys)	THPO (R119C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1309245	NM_000460.4(THPO):c.355C>G (p.Arg119Gly)	THPO (R119G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310798	NM_000460.4(THPO):c.307G>A (p.Gly103Arg)	THPO (G103R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372983	NM_000460.4(THPO):c.247G>A (p.Asp83Asn)	THPO (D83N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 256212	NM_000460.4(THPO):c.229-17_229-14dup	THPO	Duplication (intron variant)	Thrombocythemia 1 +2 more	GBenign/Likely benign
Select item 1219171	NM_000460.4(THPO):c.229-127G>A	THPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232754	NM_000460.4(THPO):c.229-156G>A	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251108	NM_000460.4(THPO):c.228+263C>T	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251537	NM_000460.4(THPO):c.228+197A>G	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3367514	NM_000460.4(THPO):c.194T>C (p.Val65Ala)	THPO (V205A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190795	NM_000460.4(THPO):c.142-115G>A	THPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265627	NM_000460.4(THPO):c.142-138G>A	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314548	NM_000460.4(THPO):c.9G>A (p.Leu3=)	THPO	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1314539	NM_000460.4(THPO):c.-7G>A	THPO	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 9510	NM_000460.4(THPO):c.-31G>T	THPO (R130S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 1309244	NM_000460.4(THPO):c.-126G>T	THPO (A99S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1196778	NM_000460.4(THPO):c.-145-277G>A	THPO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231209	NM_000460.4(THPO):c.-145-309A>G	THPO	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3360812	NM_000460.4(THPO):c.684G>C (p.Lys228Asn)	THPO (D190H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 30