DQX1[gene] and "single gene"[properties] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 2387104	NM_133637.3(DQX1):c.191G>A (p.Gly64Glu)	DQX1 (G64E)	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

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Items: 31