ZXDC[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 57791	GRCh38/hg38 3q21.3(chr3:126167799-126819908)x3	ALDH1L1, ALDH1L1-AS2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 2392764	NM_025112.5(ZXDC):c.2516C>G (p.Pro839Arg)	ZXDC (P839R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199694	NM_025112.5(ZXDC):c.2476G>A (p.Val826Ile)	ZXDC (V826I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387438	NM_025112.5(ZXDC):c.2469C>A (p.Asp823Glu)	ZXDC (D823E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199692	NM_025112.5(ZXDC):c.2410G>A (p.Glu804Lys)	ZXDC (E804K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334049	NM_025112.5(ZXDC):c.2374G>A (p.Val792Ile)	ZXDC (V792I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260210	NM_025112.5(ZXDC):c.2369A>G (p.Gln790Arg)	ZXDC (Q790R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520174	NM_025112.5(ZXDC):c.2357A>G (p.Gln786Arg)	ZXDC (Q786R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368132	NM_025112.5(ZXDC):c.2345C>A (p.Ala782Glu)	ZXDC (A782E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393078	NM_025112.5(ZXDC):c.2314C>T (p.Pro772Ser)	ZXDC (P772S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199690	NM_025112.5(ZXDC):c.2300G>A (p.Gly767Glu)	ZXDC (G767E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521948	NM_025112.5(ZXDC):c.2297G>A (p.Cys766Tyr)	ZXDC (C766Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312654	NM_025112.5(ZXDC):c.2273A>G (p.His758Arg)	ZXDC (H758R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320616	NM_025112.5(ZXDC):c.2272C>A (p.His758Asn)	ZXDC (H758N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199689	NM_025112.5(ZXDC):c.2247A>T (p.Glu749Asp)	ZXDC (E749D)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2348281	NM_025112.5(ZXDC):c.2048A>G (p.Gln683Arg)	ZXDC (Q683R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3199685	NM_025112.5(ZXDC):c.2024A>G (p.Gln675Arg)	ZXDC (Q675R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199684	NM_025112.5(ZXDC):c.1988C>T (p.Pro663Leu)	ZXDC (P663L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199683	NM_025112.5(ZXDC):c.1957C>T (p.Pro653Ser)	ZXDC (P653S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353835	NM_025112.5(ZXDC):c.1949C>G (p.Ala650Gly)	ZXDC (A650G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598569	NM_025112.5(ZXDC):c.1947T>G (p.Asn649Lys)	ZXDC (N649K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260202	NM_025112.5(ZXDC):c.1937C>G (p.Pro646Arg)	ZXDC (P646R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600833	NM_025112.5(ZXDC):c.1934C>T (p.Thr645Ile)	ZXDC (T645I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244953	NM_025112.5(ZXDC):c.1918C>T (p.Pro640Ser)	ZXDC (P640S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367404	NM_025112.5(ZXDC):c.1889A>G (p.Asn630Ser)	ZXDC (N630S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2619973	NM_025112.5(ZXDC):c.1871C>T (p.Pro624Leu)	ZXDC (P624L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199681	NM_025112.5(ZXDC):c.1867G>A (p.Asp623Asn)	ZXDC (D623N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344948	NM_025112.5(ZXDC):c.1814G>A (p.Ser605Asn)	ZXDC (S605N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411780	NM_025112.5(ZXDC):c.1801G>A (p.Val601Met)	ZXDC (V601M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300873	NM_025112.5(ZXDC):c.1753G>A (p.Gly585Arg)	ZXDC (G585R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260205	NM_025112.5(ZXDC):c.1739G>A (p.Ser580Asn)	ZXDC (S580N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351772	NM_025112.5(ZXDC):c.1640C>T (p.Ser547Phe)	ZXDC (S547F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260204	NM_025112.5(ZXDC):c.1624G>A (p.Val542Ile)	ZXDC (V542I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199680	NM_025112.5(ZXDC):c.1607G>A (p.Gly536Glu)	ZXDC (G536E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285427	NM_025112.5(ZXDC):c.1586C>T (p.Ser529Leu)	ZXDC (S529L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336565	NM_025112.5(ZXDC):c.1565C>T (p.Ala522Val)	ZXDC (A522V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199679	NM_025112.5(ZXDC):c.1520C>T (p.Thr507Ile)	ZXDC (T507I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406468	NM_025112.5(ZXDC):c.1435C>T (p.Arg479Cys)	ZXDC (R479C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260203	NM_025112.5(ZXDC):c.1432C>T (p.Arg478Trp)	ZXDC (R478W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199677	NM_025112.5(ZXDC):c.1409C>T (p.Ala470Val)	ZXDC (A470V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541076	NM_025112.5(ZXDC):c.1393A>C (p.Lys465Gln)	ZXDC (K465Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620519	NM_025112.5(ZXDC):c.1346C>T (p.Pro449Leu)	ZXDC (P449L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199676	NM_025112.5(ZXDC):c.1327G>T (p.Val443Leu)	ZXDC (V443L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2570012	NM_025112.5(ZXDC):c.1276T>C (p.Cys426Arg)	ZXDC (C426R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486525	NM_025112.5(ZXDC):c.1264G>A (p.Val422Met)	ZXDC (V422M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260209	NM_025112.5(ZXDC):c.1049G>A (p.Arg350Gln)	ZXDC (R350Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402932	NM_025112.5(ZXDC):c.903T>G (p.Phe301Leu)	ZXDC (F301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199703	NM_025112.5(ZXDC):c.869A>G (p.His290Arg)	ZXDC (H290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227131	NM_025112.5(ZXDC):c.815T>C (p.Val272Ala)	ZXDC (V272A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238827	NM_025112.5(ZXDC):c.813G>C (p.Glu271Asp)	ZXDC (E271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199701	NM_025112.5(ZXDC):c.796A>G (p.Ser266Gly)	ZXDC (S266G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332926	NM_025112.5(ZXDC):c.779A>G (p.Lys260Arg)	ZXDC (K260R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395300	NM_025112.5(ZXDC):c.769G>A (p.Ala257Thr)	ZXDC (A257T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543148	NM_025112.5(ZXDC):c.653C>T (p.Ala218Val)	ZXDC (A218V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621874	NM_025112.5(ZXDC):c.619C>T (p.Pro207Ser)	ZXDC (P207S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471967	NM_025112.5(ZXDC):c.554C>T (p.Ala185Val)	ZXDC (A185V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478811	NM_025112.5(ZXDC):c.539C>G (p.Pro180Arg)	LOC129937463, ZXDC (P180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199698	NM_025112.5(ZXDC):c.515C>T (p.Thr172Met)	LOC129937463, ZXDC (T172M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199697	NM_025112.5(ZXDC):c.497A>T (p.Gln166Leu)	LOC129937463, ZXDC (Q166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229321	NM_025112.5(ZXDC):c.497A>C (p.Gln166Pro)	LOC129937463, ZXDC (Q166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260211	NM_025112.5(ZXDC):c.478G>A (p.Ala160Thr)	LOC129937463, ZXDC (A160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544366	NM_025112.5(ZXDC):c.478G>T (p.Ala160Ser)	LOC129937463, ZXDC (A160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321708	NM_025112.5(ZXDC):c.401A>G (p.Gln134Arg)	LOC129937463, ZXDC (Q134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199696	NM_025112.5(ZXDC):c.362C>T (p.Pro121Leu)	LOC129937463, ZXDC (P121L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349492	NM_025112.5(ZXDC):c.316A>G (p.Ser106Gly)	LOC129937463, ZXDC (S106G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199695	NM_025112.5(ZXDC):c.305T>A (p.Val102Asp)	LOC129937463, ZXDC (V102D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462373	NM_025112.5(ZXDC):c.280C>G (p.Gln94Glu)	ZXDC (Q94E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317168	NM_025112.5(ZXDC):c.260C>T (p.Ala87Val)	ZXDC (A87V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199693	NM_025112.5(ZXDC):c.242T>G (p.Val81Gly)	ZXDC (V81G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403524	NM_025112.5(ZXDC):c.232C>G (p.Leu78Val)	ZXDC (L78V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199688	NM_025112.5(ZXDC):c.203A>T (p.Asp68Val)	LOC129937464, ZXDC (D68V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199687	NM_025112.5(ZXDC):c.202G>T (p.Asp68Tyr)	LOC129937464, ZXDC (D68Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528213	NM_025112.5(ZXDC):c.188C>T (p.Pro63Leu)	LOC129937464, ZXDC (P63L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229955	NM_025112.5(ZXDC):c.170A>C (p.Glu57Ala)	LOC129937464, ZXDC (E57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260207	NM_025112.5(ZXDC):c.167G>T (p.Gly56Val)	LOC129937464, ZXDC (G56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260208	NM_025112.5(ZXDC):c.124C>A (p.Leu42Met)	LOC129937464, ZXDC (L42M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511235	NM_025112.5(ZXDC):c.112C>T (p.Arg38Cys)	LOC129937464, ZXDC (R38C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491013	NM_025112.5(ZXDC):c.77G>A (p.Arg26Gln)	LOC129937464, ZXDC (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260206	NM_025112.5(ZXDC):c.65G>A (p.Gly22Asp)	ZXDC, LOC129937464 (G22D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398492	NM_025112.5(ZXDC):c.62C>T (p.Pro21Leu)	LOC129937464, ZXDC (P21L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199700	NM_025112.5(ZXDC):c.53G>A (p.Gly18Asp)	LOC129937464, ZXDC (G18D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199678	NM_025112.5(ZXDC):c.14C>T (p.Ala5Val)	LOC129937464, ZXDC (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608390	NM_025112.5(ZXDC):c.11C>T (p.Pro4Leu)	LOC129937464, ZXDC (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 1809470	GRCh37/hg19 3q21.3(chr3:126158843-126683166)x3	C3orf22, CHCHD6 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527040	GRCh37/hg19 3q21.2-21.3(chr3:124990058-126401548)	ALDH1L1, C3orf22 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 100