ClinVar for Gene (Select 9037) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 262

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159869	NM_003966.3(SEMA5A):c.983C>T (p.Ala328Val)	SEMA5A (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159868	NM_003966.3(SEMA5A):c.751G>A (p.Ala251Thr)	SEMA5A (A251T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159867	NM_003966.3(SEMA5A):c.380G>A (p.Arg127Gln)	SEMA5A (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159866	NM_003966.3(SEMA5A):c.2891G>A (p.Gly964Glu)	SEMA5A (G964E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159865	NM_003966.3(SEMA5A):c.2872G>A (p.Val958Ile)	SEMA5A (V958I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159864	NM_003966.3(SEMA5A):c.2813G>A (p.Arg938Gln)	SEMA5A (R938Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159863	NM_003966.3(SEMA5A):c.2755C>A (p.Gln919Lys)	SEMA5A (Q919K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159862	NM_003966.3(SEMA5A):c.2579G>A (p.Gly860Glu)	SEMA5A (G860E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159861	NM_003966.3(SEMA5A):c.2392C>T (p.Arg798Cys)	SEMA5A (R798C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159860	NM_003966.3(SEMA5A):c.2256G>T (p.Met752Ile)	SEMA5A (M752I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159859	NM_003966.3(SEMA5A):c.2194A>G (p.Thr732Ala)	SEMA5A (T732A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159858	NM_003966.3(SEMA5A):c.1816C>T (p.Pro606Ser)	SEMA5A (P606S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159857	NM_003966.3(SEMA5A):c.1742A>C (p.Gln581Pro)	SEMA5A (Q581P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159856	NM_003966.3(SEMA5A):c.1598C>T (p.Pro533Leu)	SEMA5A (P533L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159855	NM_003966.3(SEMA5A):c.1553A>G (p.Glu518Gly)	SEMA5A (E518G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159854	NM_003966.3(SEMA5A):c.1490T>C (p.Ile497Thr)	SEMA5A (I497T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159853	NM_003966.3(SEMA5A):c.1364G>A (p.Arg455Gln)	SEMA5A (R455Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159851	NM_003966.3(SEMA5A):c.1123G>T (p.Asp375Tyr)	SEMA5A (D375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	ADAMTS16, ADCY2 +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
Select item 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062869	GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1	ADAMTS16, ADCY2 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062827	GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
Select item 3060974	NM_003966.3(SEMA5A):c.1659G>T (p.Thr553=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GBenign
Select item 3059430	NM_003966.3(SEMA5A):c.2943C>T (p.Leu981=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GBenign
Select item 3059015	NM_003966.3(SEMA5A):c.1569G>C (p.Thr523=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GBenign
Select item 3053563	NM_003966.3(SEMA5A):c.1858C>T (p.Arg620Cys)	SEMA5A (R620C)	Single nucleotide variant (missense variant)	SEMA5A-related condition	GUncertain significance
Select item 3049715	NM_003966.3(SEMA5A):c.1041G>A (p.Pro347=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GLikely benign
Select item 3046664	NM_003966.3(SEMA5A):c.2328G>T (p.Gly776=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GLikely benign
Select item 3041731	NM_003966.3(SEMA5A):c.2984G>A (p.Arg995Gln)	SEMA5A (R995Q)	Single nucleotide variant (missense variant)	SEMA5A-related condition	GBenign
Select item 3039609	NM_003966.3(SEMA5A):c.456T>C (p.His152=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GLikely benign
Select item 3038259	NM_003966.3(SEMA5A):c.3008C>T (p.Ala1003Val)	SEMA5A (A1003V)	Single nucleotide variant (missense variant)	SEMA5A-related condition	GLikely benign
Select item 3035314	NM_003966.3(SEMA5A):c.2595C>T (p.Thr865=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition	GLikely benign
Select item 3033704	NM_003966.3(SEMA5A):c.1781+5G>T	SEMA5A	Single nucleotide variant (intron variant)	SEMA5A-related condition	GUncertain significance
Select item 2685147	GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1	ANKH, ANKRD33B +15 more	Copy number loss	not provided	GPathogenic
Select item 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
Select item 2673004	NM_003966.3(SEMA5A):c.2571C>T (p.Cys857=)	SEMA5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2664821	NM_003966.3(SEMA5A):c.85C>T (p.Gln29Ter)	SEMA5A (Q29*)	Single nucleotide variant (nonsense)	Infantile epilepsy syndrome	GUncertain significance
Select item 2655294	NM_003966.3(SEMA5A):c.2866A>G (p.Ser956Gly)	SEMA5A (S956G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2655293	NM_003966.3(SEMA5A):c.3039C>T (p.Pro1013=)	SEMA5A	Single nucleotide variant (synonymous variant)	SEMA5A-related condition +1 more	GBenign/Likely benign
Select item 2637179	NM_003966.3(SEMA5A):c.1541C>T (p.Thr514Ile)	SEMA5A (T514I)	Single nucleotide variant (missense variant)	SEMA5A-related condition	GUncertain significance
Select item 2620477	NM_003966.3(SEMA5A):c.2048G>A (p.Gly683Glu)	SEMA5A (G683E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601550	NM_003966.3(SEMA5A):c.1249G>A (p.Val417Ile)	SEMA5A (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599082	NM_003966.3(SEMA5A):c.2599T>A (p.Ser867Thr)	SEMA5A (S867T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597348	NM_003966.3(SEMA5A):c.1934A>G (p.Asn645Ser)	SEMA5A (N645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591034	NM_003966.3(SEMA5A):c.2794G>A (p.Gly932Arg)	SEMA5A (G932R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590378	NM_003966.3(SEMA5A):c.1225G>A (p.Val409Met)	SEMA5A (V409M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588962	NM_003966.3(SEMA5A):c.143G>A (p.Arg48Gln)	SEMA5A (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588142	NM_003966.3(SEMA5A):c.454C>T (p.His152Tyr)	SEMA5A (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 2558629	NM_003966.3(SEMA5A):c.1675G>A (p.Ala559Thr)	SEMA5A (A559T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546047	NM_003966.3(SEMA5A):c.2819G>A (p.Cys940Tyr)	SEMA5A (C940Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531129	NM_003966.3(SEMA5A):c.1568C>T (p.Thr523Met)	SEMA5A (T523M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529984	NM_003966.3(SEMA5A):c.93G>C (p.Gln31His)	SEMA5A (Q31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528650	NM_003966.3(SEMA5A):c.1222G>A (p.Asp408Asn)	SEMA5A (D408N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526094	NM_003966.3(SEMA5A):c.1859G>A (p.Arg620His)	SEMA5A (R620H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524589	NM_003966.3(SEMA5A):c.2167G>A (p.Gly723Ser)	SEMA5A (G723S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514552	NM_003966.3(SEMA5A):c.410C>T (p.Thr137Met)	SEMA5A (T137M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496191	NM_003966.3(SEMA5A):c.1630G>A (p.Gly544Ser)	SEMA5A (G544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484536	NM_003966.3(SEMA5A):c.2758T>C (p.Cys920Arg)	SEMA5A (C920R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484396	NM_003966.3(SEMA5A):c.2920G>C (p.Val974Leu)	SEMA5A (V974L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470825	NM_003966.3(SEMA5A):c.1711G>A (p.Asp571Asn)	SEMA5A (D571N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460866	NM_003966.3(SEMA5A):c.1298G>A (p.Arg433Gln)	SEMA5A (R433Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458554	NM_003966.3(SEMA5A):c.2029C>T (p.Arg677Cys)	SEMA5A (R677C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456732	NM_003966.3(SEMA5A):c.800C>A (p.Thr267Asn)	SEMA5A (T267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412460	NM_003966.3(SEMA5A):c.2443G>A (p.Glu815Lys)	SEMA5A (E815K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397879	NM_003966.3(SEMA5A):c.1108G>A (p.Glu370Lys)	SEMA5A (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391991	NM_003966.3(SEMA5A):c.58G>A (p.Ala20Thr)	SEMA5A (A20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391957	NM_003966.3(SEMA5A):c.2393G>A (p.Arg798His)	SEMA5A (R798H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381689	NM_003966.3(SEMA5A):c.1307T>A (p.Leu436Gln)	SEMA5A (L436Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379824	NM_003966.3(SEMA5A):c.379C>T (p.Arg127Trp)	SEMA5A (R127W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2378174	NM_003966.3(SEMA5A):c.512C>T (p.Ala171Val)	SEMA5A (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377842	NM_003966.3(SEMA5A):c.1702C>T (p.Arg568Cys)	SEMA5A (R568C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370179	NM_003966.3(SEMA5A):c.2869A>G (p.Ser957Gly)	SEMA5A (S957G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368369	NM_003966.3(SEMA5A):c.356G>A (p.Arg119Gln)	SEMA5A (R119Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363065	NM_003966.3(SEMA5A):c.1022C>T (p.Ser341Leu)	SEMA5A (S341L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362865	NM_003966.3(SEMA5A):c.2965G>A (p.Val989Ile)	SEMA5A (V989I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350111	NM_003966.3(SEMA5A):c.2749G>A (p.Ala917Thr)	SEMA5A (A917T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305825	NM_003966.3(SEMA5A):c.1346A>T (p.Glu449Val)	SEMA5A (E449V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304825	NM_003966.3(SEMA5A):c.1592C>T (p.Ala531Val)	SEMA5A (A531V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303581	NM_003966.3(SEMA5A):c.2575G>C (p.Gly859Arg)	SEMA5A (G859R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280007	NM_003966.3(SEMA5A):c.2944G>A (p.Gly982Ser)	SEMA5A (G982S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276670	NM_003966.3(SEMA5A):c.2690A>G (p.Glu897Gly)	SEMA5A (E897G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264539	NM_003966.3(SEMA5A):c.1297C>T (p.Arg433Trp)	SEMA5A (R433W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254789	NM_003966.3(SEMA5A):c.3157C>G (p.Pro1053Ala)	SEMA5A (P1053A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253692	NM_003966.3(SEMA5A):c.1964T>C (p.Phe655Ser)	SEMA5A (F655S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253691	NM_003966.3(SEMA5A):c.1963T>G (p.Phe655Val)	SEMA5A (F655V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253690	NM_003966.3(SEMA5A):c.1962G>A (p.Met654Ile)	SEMA5A (M654I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213361	NM_003966.3(SEMA5A):c.824G>T (p.Arg275Leu)	SEMA5A (R275L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210889	NM_003966.3(SEMA5A):c.821C>T (p.Ala274Val)	SEMA5A (A274V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205619	NM_003966.3(SEMA5A):c.80C>T (p.Thr27Met)	SEMA5A (T27M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

<< First< Prev

Page of 3