"Ambry Genetics"[submitter] AND "TXNDC2"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490273	NM_032243.6(TXNDC2):c.-93+109G>C	TXNDC2 (K5N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353229	NM_032243.6(TXNDC2):c.-93+165T>G	TXNDC2 (L24R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397449	NM_032243.6(TXNDC2):c.-59C>T	TXNDC2 (P48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317376	NM_032243.6(TXNDC2):c.-47T>G	TXNDC2 (L52R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250011	NM_032243.6(TXNDC2):c.-8T>C	TXNDC2 (F65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360478	NM_032243.6(TXNDC2):c.25C>T (p.Arg9Cys)	TXNDC2 (R9C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185178	NM_032243.6(TXNDC2):c.83A>G (p.Asn28Ser)	TXNDC2 (N28S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461188	NM_032243.6(TXNDC2):c.101A>T (p.Gln34Leu)	TXNDC2 (Q101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252210	NM_032243.6(TXNDC2):c.158C>A (p.Pro53His)	TXNDC2 (P120H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185179	NM_032243.6(TXNDC2):c.179T>A (p.Ile60Asn)	TXNDC2 (I127N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267624	NM_032243.6(TXNDC2):c.237G>C (p.Glu79Asp)	TXNDC2 (E146D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533947	NM_032243.6(TXNDC2):c.245T>C (p.Ile82Thr)	TXNDC2 (I82T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386844	NM_032243.6(TXNDC2):c.298G>A (p.Ala100Thr)	TXNDC2 (A100T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297142	NM_032243.6(TXNDC2):c.304G>A (p.Val102Met)	TXNDC2 (V169M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385546	NM_032243.6(TXNDC2):c.344C>G (p.Ala115Gly)	TXNDC2 (A115G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455017	NM_032243.6(TXNDC2):c.445C>T (p.Pro149Ser)	TXNDC2 (P216S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185180	NM_032243.6(TXNDC2):c.469A>G (p.Ile157Val)	TXNDC2 (I157V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616971	NM_032243.6(TXNDC2):c.507G>C (p.Glu169Asp)	TXNDC2 (E169D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270495	NM_032243.6(TXNDC2):c.545C>A (p.Pro182His)	TXNDC2 (P249H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391116	NM_032243.6(TXNDC2):c.562C>T (p.Pro188Ser)	TXNDC2 (P188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513382	NM_032243.6(TXNDC2):c.578A>G (p.Lys193Arg)	TXNDC2 (K260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533839	NM_032243.6(TXNDC2):c.605T>C (p.Ile202Thr)	TXNDC2 (I269T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380774	NM_032243.6(TXNDC2):c.633G>T (p.Gln211His)	TXNDC2 (Q211H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461184	NM_032243.6(TXNDC2):c.722A>G (p.Gln241Arg)	TXNDC2 (Q308R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391053	NM_032243.6(TXNDC2):c.752C>A (p.Pro251Gln)	TXNDC2 (P318Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213192	NM_032243.6(TXNDC2):c.817A>G (p.Lys273Glu)	TXNDC2 (K273E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271870	NM_032243.6(TXNDC2):c.986C>G (p.Ala329Gly)	TXNDC2 (A329G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185174	NM_032243.6(TXNDC2):c.1000G>C (p.Glu334Gln)	TXNDC2 (E334Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185175	NM_032243.6(TXNDC2):c.1004T>C (p.Ile335Thr)	TXNDC2 (I335T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330378	NM_032243.6(TXNDC2):c.1143C>A (p.Asp381Glu)	TXNDC2 (D381E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404482	NM_032243.6(TXNDC2):c.1198G>A (p.Gly400Arg)	TXNDC2 (G400R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330379	NM_032243.6(TXNDC2):c.1277T>C (p.Leu426Pro)	TXNDC2 (L493P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330377	NM_032243.6(TXNDC2):c.1325A>G (p.Asn442Ser)	TXNDC2 (N509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600774	NM_032243.6(TXNDC2):c.1402G>A (p.Asp468Asn)	TXNDC2 (D468N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185177	NM_032243.6(TXNDC2):c.1414G>A (p.Gly472Ser)	TXNDC2 (G539S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 35