DQX1[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 155389	GRCh38/hg38 2p13.1-12(chr2:74375779-75517520)x1	AUP1, C2orf81 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147468	GRCh38/hg38 2p13.1-12(chr2:74432069-75181627)x3	AUP1, CCDC142 +66 more	Copy number gain	See cases	GUncertain significance
Select item 3273724	NM_133637.3(DQX1):c.2049G>C (p.Glu683Asp)	DQX1 (E683D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566036	NM_133637.3(DQX1):c.2042C>G (p.Pro681Arg)	DQX1 (P681R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085696	NM_133637.3(DQX1):c.2030G>A (p.Ser677Asn)	DQX1 (S677N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553348	NM_133637.3(DQX1):c.2027T>C (p.Leu676Pro)	DQX1 (L676P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085695	NM_133637.3(DQX1):c.1883G>T (p.Cys628Phe)	DQX1 (C628F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246850	NM_133637.3(DQX1):c.1870C>T (p.Leu624Phe)	DQX1 (L624F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520739	NM_133637.3(DQX1):c.1841T>G (p.Leu614Arg)	DQX1 (L614R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326075	NM_133637.3(DQX1):c.1774C>A (p.Gln592Lys)	DQX1 (Q592K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085694	NM_133637.3(DQX1):c.1732T>C (p.Ser578Pro)	DQX1 (S578P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085693	NM_133637.3(DQX1):c.1723C>A (p.Leu575Ile)	DQX1 (L575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404927	NM_133637.3(DQX1):c.1687C>T (p.Arg563Trp)	DQX1 (R563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273730	NM_133637.3(DQX1):c.1685T>G (p.Leu562Arg)	DQX1 (L562R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309683	NM_133637.3(DQX1):c.1663G>A (p.Ala555Thr)	DQX1 (A555T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381430	NM_133637.3(DQX1):c.1611A>G (p.Ile537Met)	DQX1 (I537M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368108	NM_133637.3(DQX1):c.1579A>C (p.Ser527Arg)	DQX1 (S527R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361003	NM_133637.3(DQX1):c.1546C>T (p.Arg516Cys)	DQX1 (R516C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085692	NM_133637.3(DQX1):c.1505G>T (p.Gly502Val)	DQX1 (G502V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273723	NM_133637.3(DQX1):c.1426A>G (p.Lys476Glu)	DQX1 (K476E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340769	NM_133637.3(DQX1):c.1319T>C (p.Met440Thr)	DQX1 (M440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307119	NM_133637.3(DQX1):c.1262A>G (p.Gln421Arg)	DQX1 (Q421R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085691	NM_133637.3(DQX1):c.1171T>C (p.Ser391Pro)	DQX1 (S391P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315013	NM_133637.3(DQX1):c.1040G>A (p.Arg347Gln)	DQX1 (R347Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537603	NM_133637.3(DQX1):c.976C>A (p.Leu326Met)	DQX1 (L326M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273725	NM_133637.3(DQX1):c.967A>C (p.Thr323Pro)	DQX1 (T323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341612	NM_133637.3(DQX1):c.830G>A (p.Cys277Tyr)	DQX1 (C277Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085700	NM_133637.3(DQX1):c.770G>A (p.Arg257Gln)	DQX1 (R257Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 692315	NM_133637.3(DQX1):c.769C>T (p.Arg257Trp)	DQX1 (R257W)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita +1 more	GUncertain significance
Select item 2335980	NM_133637.3(DQX1):c.751G>A (p.Ala251Thr)	DQX1 (A251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273731	NM_133637.3(DQX1):c.742G>A (p.Ala248Thr)	DQX1 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273726	NM_133637.3(DQX1):c.634C>T (p.Leu212Phe)	DQX1 (L212F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085699	NM_133637.3(DQX1):c.599T>A (p.Val200Glu)	DQX1 (V200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085698	NM_133637.3(DQX1):c.592C>G (p.Leu198Val)	DQX1 (L198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373575	NM_133637.3(DQX1):c.496G>A (p.Val166Met)	DQX1 (V166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268952	NM_133637.3(DQX1):c.346G>A (p.Ala116Thr)	DQX1 (A116T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536008	NM_133637.3(DQX1):c.314C>G (p.Pro105Arg)	DQX1 (P105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273729	NM_133637.3(DQX1):c.193G>A (p.Val65Met)	DQX1 (V65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387104	NM_133637.3(DQX1):c.191G>A (p.Gly64Glu)	DQX1 (G64E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273727	NM_133637.3(DQX1):c.136C>T (p.Pro46Ser)	DQX1 (P46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363833	NM_133637.3(DQX1):c.101G>A (p.Arg34His)	DQX1 (R34H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2498869	GRCh37/hg19 2p13.1-12(chr2:73716761-75347894)x1	CCDC142, DCTN1 +35 more	Copy number loss	not provided	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	AAK1, ACTG2 +72 more	Duplication	not provided	GUncertain significance
Select item 2425561	NC_000002.11:g.(?_72359356)_(74779761_?)del	ACTG2, ALMS1 +42 more	Deletion	not provided	GPathogenic
Select item 2424629	NC_000002.11:g.(?_71004499)_(74779761_?)del	ACTG2, ALMS1 +55 more	Deletion	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic

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Items: 56