TXNDC5[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	LINC02522, LINC02525 +823 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC132089500, LOC132090749 +641 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995714, LOC129995715 +777 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	LOC129995520, LOC129995521 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC121106426, LOC121113497 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LINC02521, LINC02522 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +435 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995778, LOC129995779 +571 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC126859546, LOC126859547 +431 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC129995630, LOC129995631 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	LOC129389446, LOC129389447 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	ADTRP, BLOC1S5 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2338419	NM_030810.5(TXNDC5):c.1278C>A (p.Ser426Arg)	BLOC1S5-TXNDC5, LOC126859578 +1 more (S318R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2375469	NM_030810.5(TXNDC5):c.1264C>T (p.Arg422Cys)	BLOC1S5-TXNDC5, LOC126859578 +1 more (R314C +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410333	NM_030810.5(TXNDC5):c.1253A>G (p.Asp418Gly)	BLOC1S5-TXNDC5, LOC126859578 +1 more (D310G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 780037	NM_030810.5(TXNDC5):c.1208G>A (p.Arg403Gln)	BLOC1S5-TXNDC5, LOC126859578 +1 more (R295Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2527860	NM_030810.5(TXNDC5):c.1147G>C (p.Ala383Pro)	BLOC1S5-TXNDC5, TXNDC5 (A383P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522166	NM_030810.5(TXNDC5):c.958G>A (p.Asp320Asn)	BLOC1S5-TXNDC5, TXNDC5 (D320N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522165	NM_030810.5(TXNDC5):c.952G>A (p.Glu318Lys)	BLOC1S5-TXNDC5, TXNDC5 (E318K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2615745	NM_030810.5(TXNDC5):c.932C>T (p.Pro311Leu)	BLOC1S5-TXNDC5, TXNDC5 (P203L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597236	NM_030810.5(TXNDC5):c.875C>T (p.Ser292Leu)	BLOC1S5-TXNDC5, TXNDC5 (S184L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2301394	NM_030810.5(TXNDC5):c.750C>G (p.His250Gln)	TXNDC5, BLOC1S5-TXNDC5 (H142Q +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356091	NM_030810.5(TXNDC5):c.712G>A (p.Glu238Lys)	TXNDC5, BLOC1S5-TXNDC5 (E130K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605354	NM_030810.5(TXNDC5):c.455A>G (p.Gln152Arg)	TXNDC5, BLOC1S5-TXNDC5 (Q44R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656217	NM_030810.5(TXNDC5):c.375C>T (p.Ser125=)	BLOC1S5-TXNDC5, TXNDC5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2252508	NM_030810.5(TXNDC5):c.313A>C (p.Lys105Gln)	TXNDC5, BLOC1S5-TXNDC5 (K105Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2481743	NM_030810.5(TXNDC5):c.305T>G (p.Leu102Arg)	BLOC1S5-TXNDC5, TXNDC5 (L102R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2293834	NM_030810.5(TXNDC5):c.295T>C (p.Trp99Arg)	BLOC1S5-TXNDC5, TXNDC5 (W99R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2344509	NM_030810.5(TXNDC5):c.281G>A (p.Arg94Gln)	BLOC1S5-TXNDC5, TXNDC5 (R94Q)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2529989	NM_030810.5(TXNDC5):c.232G>A (p.Ala78Thr)	BLOC1S5-TXNDC5, TXNDC5 (A78T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515639	NM_030810.5(TXNDC5):c.189G>T (p.Lys63Asn)	BLOC1S5-TXNDC5, TXNDC5 (K63N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346025	NM_030810.5(TXNDC5):c.179C>T (p.Pro60Leu)	BLOC1S5-TXNDC5, TXNDC5 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594491	NM_030810.5(TXNDC5):c.142G>C (p.Gly48Arg)	BLOC1S5-TXNDC5, TXNDC5 (G48R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289430	NM_030810.5(TXNDC5):c.95G>A (p.Gly32Glu)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G32E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396239	NM_030810.5(TXNDC5):c.74T>A (p.Leu25Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253671	NM_030810.5(TXNDC5):c.71T>A (p.Leu24Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L24Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396238	NM_030810.5(TXNDC5):c.68T>A (p.Leu23Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L23Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396237	NM_030810.5(TXNDC5):c.65T>A (p.Leu22Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L22Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396236	NM_030810.5(TXNDC5):c.62T>A (p.Leu21Gln)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L21Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349946	NM_030810.5(TXNDC5):c.29C>G (p.Pro10Arg)	BLOC1S5-TXNDC5, LOC129995724 +1 more (P10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208184	NM_030810.5(TXNDC5):c.22C>T (p.Leu8Phe)	BLOC1S5-TXNDC5, LOC129995724 +1 more (L8F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284505	NM_030810.5(TXNDC5):c.19C>G (p.Arg7Gly)	BLOC1S5-TXNDC5, LOC129995724 +1 more (R7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400116	NM_030810.5(TXNDC5):c.16G>A (p.Gly6Arg)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G6R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332506	NM_030810.5(TXNDC5):c.4C>T (p.Pro2Ser)	BLOC1S5-TXNDC5, LOC129995724 +1 more (P2S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 47