ClinVar for Gene (Select 342357) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334751	NM_001012981.5(ZKSCAN2):c.1916G>A (p.Ser639Asn)	ZKSCAN2 (S639N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334750	NM_001012981.5(ZKSCAN2):c.52T>C (p.Cys18Arg)	ZKSCAN2 (C18R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334749	NM_001012981.5(ZKSCAN2):c.1934A>G (p.Gln645Arg)	ZKSCAN2 (Q645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334748	NM_001012981.5(ZKSCAN2):c.137A>G (p.Lys46Arg)	ZKSCAN2 (K46R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334747	NM_001012981.5(ZKSCAN2):c.2831C>T (p.Pro944Leu)	ZKSCAN2 (P944L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334746	NM_001012981.5(ZKSCAN2):c.2708G>A (p.Arg903Gln)	ZKSCAN2 (R903Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334745	NM_001012981.5(ZKSCAN2):c.1705G>A (p.Val569Met)	ZKSCAN2 (V569M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3334744	NM_001012981.5(ZKSCAN2):c.832A>G (p.Ile278Val)	ZKSCAN2 (I278V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334743	NM_001012981.5(ZKSCAN2):c.741T>G (p.Ile247Met)	ZKSCAN2 (I247M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334742	NM_001012981.5(ZKSCAN2):c.1576C>T (p.Arg526Trp)	ZKSCAN2 (R526W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334741	NM_001012981.5(ZKSCAN2):c.1685G>A (p.Arg562His)	ZKSCAN2 (R562H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193653	NM_001012981.5(ZKSCAN2):c.889A>G (p.Lys297Glu)	ZKSCAN2 (K297E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193652	NM_001012981.5(ZKSCAN2):c.865A>T (p.Thr289Ser)	ZKSCAN2 (T289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193651	NM_001012981.5(ZKSCAN2):c.838C>T (p.Arg280Trp)	ZKSCAN2 (R280W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193650	NM_001012981.5(ZKSCAN2):c.481G>A (p.Glu161Lys)	ZKSCAN2 (E161K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193649	NM_001012981.5(ZKSCAN2):c.436C>G (p.Leu146Val)	ZKSCAN2 (L146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193648	NM_001012981.5(ZKSCAN2):c.412G>A (p.Val138Met)	ZKSCAN2 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193647	NM_001012981.5(ZKSCAN2):c.2717G>A (p.Arg906Gln)	ZKSCAN2 (R906Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193646	NM_001012981.5(ZKSCAN2):c.2660A>G (p.Tyr887Cys)	ZKSCAN2 (Y887C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193645	NM_001012981.5(ZKSCAN2):c.2539A>C (p.Ile847Leu)	ZKSCAN2 (I847L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193644	NM_001012981.5(ZKSCAN2):c.2384G>T (p.Arg795Ile)	ZKSCAN2 (R795I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193643	NM_001012981.5(ZKSCAN2):c.2354G>T (p.Gly785Val)	ZKSCAN2 (G785V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193642	NM_001012981.5(ZKSCAN2):c.2296C>G (p.Arg766Gly)	ZKSCAN2 (R766G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193641	NM_001012981.5(ZKSCAN2):c.2165A>G (p.Gln722Arg)	ZKSCAN2 (Q722R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193640	NM_001012981.5(ZKSCAN2):c.2125A>G (p.Ile709Val)	ZKSCAN2 (I709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193639	NM_001012981.5(ZKSCAN2):c.2025A>G (p.Ile675Met)	ZKSCAN2 (I675M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193637	NM_001012981.5(ZKSCAN2):c.1937A>T (p.Glu646Val)	ZKSCAN2 (E646V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193636	NM_001012981.5(ZKSCAN2):c.1912A>G (p.Met638Val)	ZKSCAN2 (M638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193635	NM_001012981.5(ZKSCAN2):c.1910G>C (p.Arg637Thr)	ZKSCAN2 (R637T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193634	NM_001012981.5(ZKSCAN2):c.1603G>A (p.Ala535Thr)	ZKSCAN2 (A535T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193633	NM_001012981.5(ZKSCAN2):c.1583G>T (p.Ser528Ile)	ZKSCAN2 (S528I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193632	NM_001012981.5(ZKSCAN2):c.1483C>T (p.Leu495Phe)	ZKSCAN2 (L495F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193630	NM_001012981.5(ZKSCAN2):c.1453A>G (p.Ile485Val)	ZKSCAN2 (I485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193629	NM_001012981.5(ZKSCAN2):c.1292G>T (p.Arg431Leu)	ZKSCAN2 (R431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193628	NM_001012981.5(ZKSCAN2):c.116A>G (p.Asp39Gly)	ZKSCAN2 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193627	NM_001012981.5(ZKSCAN2):c.110G>A (p.Gly37Glu)	ZKSCAN2 (G37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623945	NM_001012981.5(ZKSCAN2):c.1689G>T (p.Lys563Asn)	ZKSCAN2 (K563N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621153	NM_001012981.5(ZKSCAN2):c.1885G>C (p.Val629Leu)	ZKSCAN2 (V629L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607409	NM_001012981.5(ZKSCAN2):c.869T>C (p.Leu290Pro)	ZKSCAN2 (L290P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605142	NM_001012981.5(ZKSCAN2):c.109G>A (p.Gly37Arg)	ZKSCAN2 (G37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589364	NM_001012981.5(ZKSCAN2):c.961G>A (p.Ala321Thr)	ZKSCAN2 (A321T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2573121	GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1	NPIPB5, PALB2 +64 more	Copy number loss	Chromosome 16p12.2-p11.2 deletion syndrome	GPathogenic
Select item 2569952	NM_001012981.5(ZKSCAN2):c.335G>A (p.Ser112Asn)	ZKSCAN2 (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556217	NM_001012981.5(ZKSCAN2):c.2803G>A (p.Glu935Lys)	ZKSCAN2 (E935K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551148	NM_001012981.5(ZKSCAN2):c.911A>G (p.Asn304Ser)	ZKSCAN2 (N304S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544097	NM_001012981.5(ZKSCAN2):c.793G>A (p.Val265Met)	ZKSCAN2 (V265M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507592	NM_001012981.5(ZKSCAN2):c.1075C>T (p.Arg359Cys)	ZKSCAN2 (R359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495756	NM_001012981.5(ZKSCAN2):c.1831G>T (p.Val611Phe)	ZKSCAN2 (V611F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493191	NM_001012981.5(ZKSCAN2):c.2470A>C (p.Ile824Leu)	ZKSCAN2 (I824L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491659	NM_001012981.5(ZKSCAN2):c.256G>C (p.Glu86Gln)	ZKSCAN2 (E86Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483703	NM_001012981.5(ZKSCAN2):c.386G>A (p.Arg129Lys)	ZKSCAN2 (R129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463757	NM_001012981.5(ZKSCAN2):c.855G>T (p.Lys285Asn)	ZKSCAN2 (K285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461330	NM_001012981.5(ZKSCAN2):c.1791A>T (p.Glu597Asp)	ZKSCAN2 (E597D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454266	NM_001012981.5(ZKSCAN2):c.1930G>T (p.Val644Leu)	ZKSCAN2 (V644L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409065	NM_001012981.5(ZKSCAN2):c.2500G>A (p.Gly834Arg)	ZKSCAN2 (G834R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390154	NM_001012981.5(ZKSCAN2):c.2869A>G (p.Lys957Glu)	ZKSCAN2 (K957E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380454	NM_001012981.5(ZKSCAN2):c.1766C>G (p.Ala589Gly)	ZKSCAN2 (A589G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377891	NM_001012981.5(ZKSCAN2):c.1136A>G (p.Glu379Gly)	ZKSCAN2 (E379G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376538	NM_001012981.5(ZKSCAN2):c.2138A>C (p.Gln713Pro)	ZKSCAN2 (Q713P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376537	NM_001012981.5(ZKSCAN2):c.1819G>C (p.Gly607Arg)	ZKSCAN2 (G607R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374827	NM_001012981.5(ZKSCAN2):c.1993G>A (p.Gly665Arg)	ZKSCAN2 (G665R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370165	NM_001012981.5(ZKSCAN2):c.1254C>G (p.Phe418Leu)	ZKSCAN2 (F418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363995	NM_001012981.5(ZKSCAN2):c.1356C>G (p.Ile452Met)	ZKSCAN2 (I452M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356763	NM_001012981.5(ZKSCAN2):c.2285G>A (p.Arg762His)	ZKSCAN2 (R762H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354521	NM_001012981.5(ZKSCAN2):c.446C>T (p.Ala149Val)	ZKSCAN2 (A149V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2353638	NM_001012981.5(ZKSCAN2):c.2768G>A (p.Arg923His)	ZKSCAN2 (R923H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345982	NM_001012981.5(ZKSCAN2):c.2633G>A (p.Arg878Gln)	ZKSCAN2 (R878Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344714	NM_001012981.5(ZKSCAN2):c.1768C>T (p.Pro590Ser)	ZKSCAN2 (P590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336897	NM_001012981.5(ZKSCAN2):c.392G>T (p.Arg131Ile)	ZKSCAN2 (R131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310573	NM_001012981.5(ZKSCAN2):c.1999A>G (p.Ser667Gly)	ZKSCAN2 (S667G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306772	NM_001012981.5(ZKSCAN2):c.1853G>T (p.Gly618Val)	ZKSCAN2 (G618V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304273	NM_001012981.5(ZKSCAN2):c.2759G>A (p.Cys920Tyr)	ZKSCAN2 (C920Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303589	NM_001012981.5(ZKSCAN2):c.2537T>C (p.Leu846Pro)	ZKSCAN2 (L846P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299051	NM_001012981.5(ZKSCAN2):c.307G>A (p.Ala103Thr)	ZKSCAN2 (A103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270601	NM_001012981.5(ZKSCAN2):c.1825A>G (p.Ile609Val)	ZKSCAN2 (I609V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264059	NM_001012981.5(ZKSCAN2):c.731T>G (p.Val244Gly)	ZKSCAN2 (V244G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258263	NM_001012981.5(ZKSCAN2):c.1843G>A (p.Glu615Lys)	ZKSCAN2 (E615K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245843	NM_001012981.5(ZKSCAN2):c.67G>A (p.Val23Met)	ZKSCAN2 (V23M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241911	NM_001012981.5(ZKSCAN2):c.22C>A (p.Gln8Lys)	ZKSCAN2 (Q8K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239871	NM_001012981.5(ZKSCAN2):c.2540T>C (p.Ile847Thr)	ZKSCAN2 (I847T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239268	NM_001012981.5(ZKSCAN2):c.1584C>G (p.Ser528Arg)	ZKSCAN2 (S528R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238901	NM_001012981.5(ZKSCAN2):c.610G>A (p.Ala204Thr)	ZKSCAN2 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237840	NM_001012981.5(ZKSCAN2):c.41A>T (p.Glu14Val)	ZKSCAN2 (E14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222610	NM_001012981.5(ZKSCAN2):c.1370A>G (p.His457Arg)	ZKSCAN2 (H457R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212875	NM_001012981.5(ZKSCAN2):c.2072A>C (p.Lys691Thr)	ZKSCAN2 (K691T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209371	NM_001012981.5(ZKSCAN2):c.2326A>C (p.Lys776Gln)	ZKSCAN2 (K776Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206985	NM_001012981.5(ZKSCAN2):c.29A>G (p.Asp10Gly)	ZKSCAN2 (D10G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205309	NM_001012981.5(ZKSCAN2):c.659G>A (p.Arg220Gln)	ZKSCAN2 (R220Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 830213	NC_000016.9:g.21530207_29332245del	KDM8, LAT +64 more	Deletion	not provided	GPathogenic
Select item 815811	GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3	GGA2, GSG1L +64 more	Copy number gain	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 564297	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1	APOBR, AQP8 +65 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443382	GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3	APOBR, AQP8 +65 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance

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