LOC129995724[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +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 2289430	NM_030810.5(TXNDC5):c.95G>A (p.Gly32Glu)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G32E)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3185183	NM_030810.5(TXNDC5):c.17G>A (p.Gly6Glu)	BLOC1S5-TXNDC5, LOC129995724 +1 more (G6E)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance

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Items: 27