2766[Gene ID] - ClinVar

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Items: 54

	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 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
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 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 146907	GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3	CD83, DTNBP1 +177 more	Copy number gain	See cases	GPathogenic
Select item 148200	GRCh38/hg38 6p23-22.3(chr6:14730556-17554091)x1	LOC129995876, LOC129995877 +135 more	Copy number loss	See cases	GLikely pathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 3281732	NM_006877.4(GMPR):c.7C>T (p.Arg3Cys)	GMPR (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100525	NM_006877.4(GMPR):c.7C>G (p.Arg3Gly)	GMPR (R3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281730	NM_006877.4(GMPR):c.17C>T (p.Ala6Val)	GMPR (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286873	NM_006877.4(GMPR):c.36C>A (p.Phe12Leu)	GMPR (F12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519041	NM_006877.4(GMPR):c.56C>T (p.Pro19Leu)	GMPR (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281733	NM_006877.4(GMPR):c.154G>A (p.Val52Met)	GMPR (V52M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254948	NM_006877.4(GMPR):c.196G>A (p.Val66Met)	GMPR (V66M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100521	NM_006877.4(GMPR):c.247G>A (p.Asp83Asn)	GMPR (D83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281727	NM_006877.4(GMPR):c.259C>T (p.Leu87Phe)	GMPR (L87F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100522	NM_006877.4(GMPR):c.272A>C (p.Asn91Thr)	GMPR (N91T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244379	NM_006877.4(GMPR):c.301G>A (p.Val101Met)	GMPR (V101M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100523	NM_006877.4(GMPR):c.331G>A (p.Glu111Lys)	GMPR (E111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542941	NM_006877.4(GMPR):c.355G>T (p.Ala119Ser)	GMPR (A119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217519	NM_006877.4(GMPR):c.437G>A (p.Arg146His)	GMPR (R146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100524	NM_006877.4(GMPR):c.460A>G (p.Ile154Val)	GMPR (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712612	NM_006877.4(GMPR):c.474C>T (p.Asn158=)	GMPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2397056	NM_006877.4(GMPR):c.530A>G (p.Lys177Arg)	GMPR (K177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281728	NM_006877.4(GMPR):c.590C>T (p.Pro197Leu)	GMPR (P197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252685	NM_006877.4(GMPR):c.637A>G (p.Lys213Glu)	GMPR (K213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511980	NM_006877.4(GMPR):c.649A>G (p.Ile217Val)	GMPR (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293457	NM_006877.4(GMPR):c.695T>G (p.Phe232Cys)	GMPR (F232C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716350	NM_006877.4(GMPR):c.747G>A (p.Thr249=)	GMPR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 15961	NM_006877.4(GMPR):c.766T>A (p.Phe256Ile)	GMPR (F256I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2481650	NM_006877.4(GMPR):c.778G>A (p.Gly260Arg)	GMPR (G260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309648	NM_006877.4(GMPR):c.786G>C (p.Lys262Asn)	GMPR (K262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281729	NM_006877.4(GMPR):c.798C>A (p.Phe266Leu)	GMPR (F266L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731036	NM_006877.4(GMPR):c.855_856dup (p.Arg286fs)	GMPR (R286fs)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 2618257	NM_006877.4(GMPR):c.858A>T (p.Arg286Ser)	GMPR (R286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611431	NM_006877.4(GMPR):c.868G>C (p.Gly290Arg)	GMPR (G290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717922	NM_006877.4(GMPR):c.899A>T (p.Asp300Val)	GMPR (D300V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717923	NM_006877.4(GMPR):c.970_973dup (p.Lys325fs)	GMPR (K325fs)	Duplication (frameshift variant)	not provided	GBenign
Select item 3062894	GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1	ATXN1, CD83 +13 more	Copy number loss	not specified	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 1527220	GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)	RBM24, RNF182 +35 more	Copy number gain	not specified	GLikely pathogenic
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688349	GRCh37/hg19 6p23-22.3(chr6:14715955-17223929)x3	ATXN1, DTNBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442457	GRCh37/hg19 6p23-22.3(chr6:13693852-24225515)x1	ATXN1, CAP2 +27 more	Copy number loss	See cases	GPathogenic
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 54