"Ambry Genetics"[submitter] AND "ZXDC"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2392764	NM_025112.5(ZXDC):c.2516C>G (p.Pro839Arg)	ZXDC (P839R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387438	NM_025112.5(ZXDC):c.2469C>A (p.Asp823Glu)	ZXDC (D823E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334049	NM_025112.5(ZXDC):c.2374G>A (p.Val792Ile)	ZXDC (V792I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2520174	NM_025112.5(ZXDC):c.2357A>G (p.Gln786Arg)	ZXDC (Q786R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368132	NM_025112.5(ZXDC):c.2345C>A (p.Ala782Glu)	ZXDC (A782E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393078	NM_025112.5(ZXDC):c.2314C>T (p.Pro772Ser)	ZXDC (P772S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521948	NM_025112.5(ZXDC):c.2297G>A (p.Cys766Tyr)	ZXDC (C766Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2312654	NM_025112.5(ZXDC):c.2273A>G (p.His758Arg)	ZXDC (H758R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320616	NM_025112.5(ZXDC):c.2272C>A (p.His758Asn)	ZXDC (H758N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318616	NM_025112.5(ZXDC):c.2194G>A (p.Gly732Arg)	ZXDC (G732R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348281	NM_025112.5(ZXDC):c.2048A>G (p.Gln683Arg)	ZXDC (Q683R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2353835	NM_025112.5(ZXDC):c.1949C>G (p.Ala650Gly)	ZXDC (A650G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598569	NM_025112.5(ZXDC):c.1947T>G (p.Asn649Lys)	ZXDC (N649K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600833	NM_025112.5(ZXDC):c.1934C>T (p.Thr645Ile)	ZXDC (T645I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244953	NM_025112.5(ZXDC):c.1918C>T (p.Pro640Ser)	ZXDC (P640S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367404	NM_025112.5(ZXDC):c.1889A>G (p.Asn630Ser)	ZXDC (N630S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2619973	NM_025112.5(ZXDC):c.1871C>T (p.Pro624Leu)	ZXDC (P624L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344948	NM_025112.5(ZXDC):c.1814G>A (p.Ser605Asn)	ZXDC (S605N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2411780	NM_025112.5(ZXDC):c.1801G>A (p.Val601Met)	ZXDC (V601M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300873	NM_025112.5(ZXDC):c.1753G>A (p.Gly585Arg)	ZXDC (G585R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351772	NM_025112.5(ZXDC):c.1640C>T (p.Ser547Phe)	ZXDC (S547F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285427	NM_025112.5(ZXDC):c.1586C>T (p.Ser529Leu)	ZXDC (S529L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2336565	NM_025112.5(ZXDC):c.1565C>T (p.Ala522Val)	ZXDC (A522V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406468	NM_025112.5(ZXDC):c.1435C>T (p.Arg479Cys)	ZXDC (R479C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541076	NM_025112.5(ZXDC):c.1393A>C (p.Lys465Gln)	ZXDC (K465Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620519	NM_025112.5(ZXDC):c.1346C>T (p.Pro449Leu)	ZXDC (P449L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570012	NM_025112.5(ZXDC):c.1276T>C (p.Cys426Arg)	ZXDC (C426R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486525	NM_025112.5(ZXDC):c.1264G>A (p.Val422Met)	ZXDC (V422M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2402932	NM_025112.5(ZXDC):c.903T>G (p.Phe301Leu)	ZXDC (F301L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2227131	NM_025112.5(ZXDC):c.815T>C (p.Val272Ala)	ZXDC (V272A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238827	NM_025112.5(ZXDC):c.813G>C (p.Glu271Asp)	ZXDC (E271D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332926	NM_025112.5(ZXDC):c.779A>G (p.Lys260Arg)	ZXDC (K260R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395300	NM_025112.5(ZXDC):c.769G>A (p.Ala257Thr)	ZXDC (A257T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543148	NM_025112.5(ZXDC):c.653C>T (p.Ala218Val)	ZXDC (A218V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621874	NM_025112.5(ZXDC):c.619C>T (p.Pro207Ser)	ZXDC (P207S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471967	NM_025112.5(ZXDC):c.554C>T (p.Ala185Val)	ZXDC (A185V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478811	NM_025112.5(ZXDC):c.539C>G (p.Pro180Arg)	LOC129937463, ZXDC (P180R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229321	NM_025112.5(ZXDC):c.497A>C (p.Gln166Pro)	LOC129937463, ZXDC (Q166P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2544366	NM_025112.5(ZXDC):c.478G>T (p.Ala160Ser)	LOC129937463, ZXDC (A160S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321708	NM_025112.5(ZXDC):c.401A>G (p.Gln134Arg)	LOC129937463, ZXDC (Q134R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349492	NM_025112.5(ZXDC):c.316A>G (p.Ser106Gly)	LOC129937463, ZXDC (S106G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462373	NM_025112.5(ZXDC):c.280C>G (p.Gln94Glu)	ZXDC (Q94E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317168	NM_025112.5(ZXDC):c.260C>T (p.Ala87Val)	ZXDC (A87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403524	NM_025112.5(ZXDC):c.232C>G (p.Leu78Val)	ZXDC (L78V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528213	NM_025112.5(ZXDC):c.188C>T (p.Pro63Leu)	LOC129937464, ZXDC (P63L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229955	NM_025112.5(ZXDC):c.170A>C (p.Glu57Ala)	LOC129937464, ZXDC (E57A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511235	NM_025112.5(ZXDC):c.112C>T (p.Arg38Cys)	LOC129937464, ZXDC (R38C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491013	NM_025112.5(ZXDC):c.77G>A (p.Arg26Gln)	LOC129937464, ZXDC (R26Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398492	NM_025112.5(ZXDC):c.62C>T (p.Pro21Leu)	LOC129937464, ZXDC (P21L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2608390	NM_025112.5(ZXDC):c.11C>T (p.Pro4Leu)	LOC129937464, ZXDC (P4L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 50